Case Study on Mucopolysaccharidosis

OBJECTIVES

The main objective of this case study is enabling students to develop knowledge regarding

the normal growth and development of children, identify different diseases in a specific age

group, gain skill and practice in providing nursing care, provide advices, health teaching to

patient and family for management of the disease.

During this process I got opportunities to learn about disease condition, its complications and

complication that arise due to the disease.

General Objectives:

To obtain detail birth and medical/ pediatric history of patient

Describe process of growth and development of children from birth to adolescence

Explain the neonatal assessment and different level of care and strategies

Discuss common childhood disease/ problems related to various systems, etiology,

pathophysiology of diseases, diagnostic tests, treatment and nursing care

To perform physical assessment of the child

To learn about the disease process and it’s prevalence

To provide advices, health teaching to patient and family for management of the disease,

medications and complications

Apply nursing process for caring the child with disease

To identify minor and major discomfort and advice relieving and coping mechanisms

To apply nursing process to care the client

To identify the different modern technologies to treat the disease and overcome the

problems regarding childhood health and educate them and their family about child

health

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2

PATIENT’s HISTORY

A. Demographic Data

Date of interview:2070/4/15

Name of Patient: Biplav Dhital

Age:13 years Sex: Male

Cast: Brahmin Religion: Hindu

Ward: Medical Bed No:343

IP No: 85169

Address:

Permanent: Gorkha Ph. No:

Temporary: Lazimpat

Information obtained from client : Bed Prasad Dhital (father)

Date Of Admission: 2070/4/11

Medical Diagnosis: Mucopolysaccharidoses

B. Chief Presenting Complaints

Generalized weakness X 1year

Progressive deterioration of school performance since 1 year

Involuntary body movement for 1 and half hour 10 days prior to day of

admission

Child was asymptomatic 1 years back

C. History Of Present Illness

Patient developed progressive generalized weakness with easy fatigability with his

history of shortness of breath upon exertion and while climbing upstairs, history of

progressive deterioration of school performance since 1 year with history of fine

tremors of all limbs because of which patient was unable to carry out daily activities

smoothly.

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D. Past History:

Patient history of involuntary body movement 1 episode for one and half an hour

followed by uprolling of eyes with deviation of mouth, drolling from mouth, stiffening

of body and titanic spasms of hands with epileptic features

patient was apparently well one year back, when he develop viral fever for 1 week and

was treated with amoxicillin 250mg and cetamol for one week

After this episode of fever patient’s general condition started to deteriorate with visible

symptoms

1. Birth history (Prenatal, Natal and Postnatal History)

Gravida/ Para: G3P3

Tetanus toxoid: taken two doses TT

Medication during pregnancy: was under continuous iron and calcium supplementation

Duration of labour: 12 hour

Types of delivery: Vaccum delivery

Place of delivery: Instituitional delivery

Gestational age at birth: full term Apprx. 3kg birth weight

Condition of baby at birth: didn’t cry immediately after birth, cried almost after 1 hour

Admitted in NICU for 4 days for late cry

Any complication of birth: Prolonged second stage

Contraception use of mother: DPO

2. Nutritional history

Duration of breastfeeding : complete six month

Age of weaning: at beginning of 7 month

Food intake in a day: 4-5 times per day

Dietary pattern before the present illness

balanced meal comprising all sources of nutrients carbohydrates, proteins, vitamins

and minerals (i.e rice, cereals, meats, milk and milk products, vegetables and fruits)

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3. Previous Illness

Illness/ Disease Remarks

Malnutrition X

Tuberculosis X

Whooping cough X

Diptheria X

Measles X

Mumps X

Polio X

Rheumatic fever X

Diarrhea X

Injuries/ Accidents X

Hospitalization (reason) 4 days hospitalization after birth for delayed

crying

Operation/ any special treatments (e.g blood

transfusion)

No any

4. Allergies

Environment/Food/ Drug/ Others: not present

5. Immunization

Name of vaccine At what age Remarks

BCG At birth

DPT/Hib/HB-1 Approx at 2 months



Polio-1 Approx at 2 months



Measles Approx at 9 months

JE -

Others -

6. Developmental History (milestones): at what age5

Neck holding: 6 months

Roll over: 1 year

Crawl: One and half year

Sit: one and half year

Stand: 2 years

Walk: 2 and half years

Monosyllable: 13 months

Bisyllable: One and half years

Two words with meaning: 3 years

Feeding: after 7 months

7. Habits

Sleeping habit: 10- 12 hours per day

Play interest: was play full a year back but due to weakness and deteriorating physical

condition plays indoor games

Bowel/ bladder habit: regular, no history of constipation and diarrhea

Special problems: cannot concentrate for long time and progressively deteriorating physical

and mental capabilities

Coping behavior: not specific

Relation with parents/ peers/ friends: has harmonious relationship with siblings, peers and

family members

Recent family changes: not any

8. Home Environment

Water: spring Waste disposal: dumping

Latrine: water seal

House: two stored concrete (cement and brick), separate kitchen

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E. family History

S.N No. of children Age Health Status

1. Biplav Dhital 13 years Ill

2. Sarita Dhital 11 years Healthy

3. Renu Dhital 8 years Healthy

Mother’s family

High blood pressure: not any

Diabetes: not any

Cancer: not any

Blood disorder: not any

Cardiovascular problems: not any

Arthritis/ Gout: not any

Asthma: not any

Tuberculosis: not any

Others: X

Father’s family

High blood pressure: not any

Diabetes: not any

Cancer: grandfather (blood cancer)

Blood disorder: grandfather (blood cancer)

Cardiovascular problems: not any

Arthritis/ Gout: not any

Asthma: not any

Tuberculosis: not any

Others: X

7

Family Tree

62years 56yrs

55yrs 60yrs (blood cancer)

42 yrs 40yrs 39yrs 37yrs 33yrs 30yrs 28yrs 40yrs 38yrs 36yrs 31yrs 29

13yrs 11yrs 8yrs

Ill Healthy Healthy

Key:

Alive healthy male

Alive healthy female

Patient

Physical Examination

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P

P

Physical Examination

(Objective Data)

Yes No Findings/ Comments

1. Vital Sign:

Temperature:

Pulse:

Respiration:

Rate:

Rhythm:

Regularity:

Blood Pressure:

✓ Vital Sign:

Temperature:98ºf

Pulse:88/m

Respiration:20/m

Rate: normal

Rhythm: rhythmic

Regularity: regular

Blood Pressure:-

2. Anthropometric Measurement

Height / Length:

Weight:

Height / Length: 127cm

Weight: 23kg

3.General Appearance

Alertness/Drowsiness

Consciousness:

Irritability:

Hygiene:

Posture/ Gait:

✓

✓

✓

✓

✓

General Appearance:

Alert

Conscious

Not irritable

Hygiene maintained

Posture abnormal (tilted, head and

hands facing outside)

4. Lymph Nodes Examination

-Pre-auricle:

-Post-auricle:

-Sub-mandible:

-Sub-clavicle:

-Cervical:

-Auxiliary:

-Inguinal:

✓

Red/ Enlargement/ Tenderness

No any lymph node redness,

enlargement or tenderness

4. Head

Hair

-Color and texture:

-Hygiene:

Head

- Black color, smooth texture

- Hair hygiene not maintained

- Long, abnormal, two prominent

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-Shape/Size of the head:

-Symmetry:

-Posture:

-Skull sutures:

-Fontanel:

-Swelling/ Injury:

-Tenderness:

-Headache:

bilateral temporal horn present

- Symmetrical

- Straight

- Normal

- Closed

- No any

- No any

- No any

5. Face

-Symmetry/ Movement:

-Swelling:

-Palsy:

-Sinuses:

- Symmetrical and normal facial

movements

- No swelling

- Not seen

- No pain and tenderness in sinus

6. Eyes

-Discharge

-Size and Symmetry

-Color of sclera

-Conjunctiva

-Lids

-Inter-papillary distance

-Epi-canthal folds

-Lacrimal punctum

-Cornea (color)

*Opacities

*Ulceration

-Pupils

-Lens:

-Vision:

✓

✓

✓

✓

- No discharge seen

- Symmetrical

- Transparent

- Pink in color

- Normal

- large i.e more than 2.5cm (4cm)

- Normal

- Observed normal, no sign of

blockage or inflammation

- Transparent

Corneal clouding present

Absent

- Normal papillary reaction

- No opacities, normal

- Decreased visual acquity

No abnormalities seen like entropion,

ptosis

7. Ears

10

-Pinna (Shape/Size/Location)

-Skin around ear

-Wax

-Tympanic membranes

*Color

*Tenderness

-Hearing defect

✓

✓

✓

Normally located

No extra growths, normal

Present but not in excessive amount

Healthy, no ulceration and

inflammation observed

Slight yellowish

Absent

Present

8.Nose:

-Structure

-Placement/alignment

-Nasal flaring

-Mucosa

-Septum

*Polyps/ Swelling

-Discharge

✓

✓

flat

Centrally located, no deviations, normal

shape and size

Uniform in size

Pink

Normal, no deviation

Absent

Absent

9. Mouth and Throat

Sore on lips

Color/ cracks/ ulceration

Oral cavity

Mucus membrane color

Gum-bleeding/ ulceration/ swelling

Missing teeth

Dental caries

Tongue

Odor from mouth

Difficulty in swallowing

Tonsils

✓

✓

✓

✓

✓

✓

✓

Absent

Pink color, no cracks and ulceration

seen

Oral mucus membrane pink, no sores

and ulceration

Absent

Absent

Pink in color, no sign of anemia

Absent

Absent

Pink, small, no sign of inflammation

10.Neck

Size/Shape

Movements ✓

Normal size and shape, centrally

located xiphoid process, no mass and

scars present

Smooth range of motion, no rigidity and

11

Thyroid Gland

Shape/size/position

Visible/not visible

Palpable/not palpable

✓

✓

stiffening, no tenderness

Normal size and shape

Not visible

Not palpable

11.Chest

Size and shape

Symmetry

Movement

Rib cage- number

Intercostals space-

tenderness/swelling

Sternum- location

Costal angle

Nipples- position

Pain

Auscultation

Percussion

Pigeon shaped chest , centrally located

xiphoid process, no mass and scars

present AP: 17inch and lateral 22 inch

Smooth range of motion, no rigidity and

stiffening, no tenderness

12 on each side (24 total)

Absent

Central

Symmetrical, tilted downward and

laterally

In midclavicular line

Absent

Normal size and shape

No abnormal breath sound present

Deep resonant sound

12. Lungs

Apex

Respiratory movements

Dyspnea

Breath sound

Grunting

Chest pain

Cough/ sputum

Wheeze

✓

✓

Normal breathe sound heard, located on

2nd intercostals space

Normal

Absent

Adventitious breathe sound absent

Absent

Absent

Absent

Absent

13. Heart

12

Inspection

Neck vein- distended/ not distended

Clubbing of fingers-yes/no

Cyanosis, central, peripheral

Edema

Palpation

Apical pulse

Capillary Refill

Auscultation

Heart sounds

✓

✓

✓

✓

Jugular vein not distended

Absent

Absent

Absent

Regular, rhythmic

Normal i.e.<3sec

No abnormal heart sound heard

14. Abdomen

Inspection

Skin

Shape/ size:

Abdomen-

distended/ascites/protruding

Umbilicus- herniation/ discharge/

hygiene and fistula

Auscultation

Bowel sound: Present/ absent

Percussion:

Dullness or flat

Palpation

Pain/ tenderness/ masses

Liver-palpable/ not palpable

spleen-palpable/ not palpable

kidney-pain/ tender

✓

✓

✓

✓

✓

✓

No signs of dehydration, smooth, no

striae, lesions of incision mark seen

Round and normal, no sign of

distention, herniation, no dilated veins

seen

Normal and present i.e gurgling and

clicks

Normal sound heard (tympanic)

Percussion performed in four regions

around abdomen

Pain, tenderness and masses absent

Liver not palpable

Spleen not palpable

Not tender

15.Genitalia

Male genitalia

External appearance of penis,

urethral and scrotum, prepuce size/

discharge

✓

✓

Normal in appearance, normal size no

hypospodias present, prepuce size

normal

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Pain of swelling in the scrotum

Anus

Anal opening

Irritation

Crack

Fissures

Enlarged vessels/ hemorrhoids

Pain/ tenderness

✓

✓

✓

✓

✓

✓

Absent

Present and normal

Absent

Absent

Absent

Absent

Absent

16. posture

Body movements

Peripheral sensation

Skin sensation to warm/cold

✓

✓

✓

Abnormal body movements present like

seizure, convulsions and tremors

Intact

Normal sensation

17. Reflexes

Planter/ knee jerk/biceps/triceps

reflex

✓ Exaggerated reflexes

18.Musculoskeletal:

Extremities

Symmetry of length

Size/shape

Number of finger and toes

Color

Tenderness

Pain

Muscle/tone and strength

Joint:

Swelling/movement/tenderness/pain

✓

✓

✓

All extremities are proportionate and

symmetrical

Normal

10 fingers and 10 toes

pink

Absent

Absent

Poor muscle tone and strength

Absent

Summary of findings14

I performed head to toe physical examination of Biplav Dhital, 13 years male diagnosed with

Mucopolysaccharidoses admitted on 2070/4/11 in medical ward. The findings obtained

during this procedure are listed below

Vital Signs:

Temperature: 98ºf

Pulse: 88/m

Respiration:20/m

Anthropoemetric measurement:

Height: 127cm

Weight: 23 cm

Abnormal findings:

Patient was alert and conscious at the time of physical examination.

Patient’s general condition was good

Patient’s personal hygiene was well maintained

Patients was well hydrated

Absence of edema

General appearance:

- Coarse facial appearance

- Flat nasal bridge

- Pallor negative, cyanosis negative

- Large intracanthal distance (4.5cm)

- Dental spacing in all teeths

Prominent bilateral temporal horns, abnormal contour of head

Decreased visual acquity of both eye

No appearance of secondary sexual characteristics

Decreased muscle mass in limbs

Decreased strength

Exaggerated reflexes

Pigeon shaped chest with pectus excavation bilateral

No abnormal heart sounds present

Scioliosis present with concavity towards Right side

Lesion in right side of back due to fall

Corneal clouding on both eye

Developmental tasks

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As my patient is of age 13 years he falls under group adolescents and has following

developmental tasks

According to book In my patient

Adjust to sexually maturing bodies

and feelings

Develop and apply abstract thinking

skills

Develop and apply new perspective

on human relationships

Develop and apply new coping skills

in areas such as decision making,

problem solving, and conflict

resolution

Identify meaningful moral standards,

values, and belief systems

Understand and express more

complex emotional experiences

Form friendships that are mutually

close and supportive

Establish key aspects of identity

Meet the demands of increasingly

mature roles and responsibilities

Renegotiate relationships with adults

in parenting roles

He hasn’t achieved this goal due to

developmental in development of

secondary sexual characteristics

He hasn’t achieved it as a result of

progressive degradation of

intellectuality

He hasn’t achieved this goal as a lack

of abstract thinking and perspectives

He has achieved this goal but in

minimal level as his decision making

capacity is not yet evolved however

he’s capable of solving very few of

his problems

He hasn’t achieved this goal as this

development is lagging and is as

equal as of a school age children

He hasn’t achieved this tasks either

He has achieved this goal as his father

mentioned he has developed this sorts

of relation with his friends

He hasn’t achieved this goal

He hasn’t achieved this goal as he’s

growth is retrograded at school age

He is still dependent on his parents

and hasn’t seek independence thus

hasn’t renegotiate his relationship

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Anatomy

17

Lysosomes

Lysosomes are membrane-enclosed organelles that contain an array of enzymes capable of

breaking down all types of biological polymers—proteins, nucleic acids, carbohydrates,

and lipids. Lysosomes function as the digestive system of the cell, serving both to degrade

material taken up from outside the cell and to digest obsolete components of the cell itself.

Lysosomes are cellular organelles that contain acid hydrolase enzymes that break down waste

materials and cellular debris. They can be described as the stomach of the cell.

Lysosomes contain about 50 different degradative enzymes that can

hydrolyze proteins, DNA, RNA, polysaccharides, and lipids. Mutations in the genes that

encode these enzymes are responsible for more than 30 different human genetic diseases,

which are called lysosomal storage diseases because undegraded material accumulates

within the lysosomes of affected individuals. Most of these diseases result from deficiencies

in single lysosomal enzymes.

Function of lysosomes

There are two major functions of lysosomes and they are phagocytosis and autophagy

In phagocytosis, specialized cells, such as macrophages, take up and degrade large particles,

including bacteria, cell debris, and aged cells that need to be eliminated from the body. Such

large particles are taken up in phagocytic vacuoles (phagosomes), which then fuse with

lysosomes, resulting in digestion of their contents.

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Lysosomes are also responsible for autophagy, the gradual turnover of the cell’s own

components. The first step of autophagy appears to be the enclosure of an organelle (e.g., a

mitochondrion) in membrane derived from the endoplasmic recticulum (ER). The resulting

vesicle (an autophagosome) then fuses with a lysosome, and its contents are digested

Introduction

Lysosomal storage disorders

Lysosomal storage diseases are a group of approximately 50 rare inherited metabolic

disorders that result from defects in lysosomal function. Lysosomal storage are genetic

diseases caused by specific enzyme deficiencies that result in the buildup of undegraded

substance inside cell organelles called lysosomes.

Lysosomes function as recycling units of each cell which harbor specific enzymes that

breakdown several substances, including proteins, sugars and lipids into simple products that

the cell then utilizes to build renewal these substances. Each of these lysosomal enzymes has

specific substances that they are capable of degrading. Lysosomal enzymes break down

macromolecules, either those from the cell itself (eg, when cellular structural components are

being recycled) or those acquired outside the cell. Inherited defects or deficiencies of

lysosomal enzymes (or other lysosomal components) can result in accumulation of

undegraded metabolites. Therefore, LSDs manifest as systemic diseases in patients with

multiple and progressive neurological, renal, cardiovascular, gastro-intestinal, musculo-

skeletal, ophthalmological, cutaneous and respiratory problems. This ultimately results in the

impairment of lysosomal function and consequently cell function in multiple organs and

systems.

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Almost 60 LSD have been described known lysosomal storage diseases. Some common LSD

include:

Fabry disease – known as X-linked genetic disease but affect both male and females with

kidney, heart and pulmonary problems, chronic pain and s typical skin sign

Gaucher disease – progressive LSD causing enlargement of spleen, liver and bone lesions.

Some forms affect also the brain causing sever neurological problems

Mucopolysaccharidosis (I-VII) – result from accumulation of mucopolysaccharides in

causing progressive damage multiple organs and systems including heart, bones, joints, eyes,

respiratory system and central nervous system. While the disease may not be apparent at

birth, signs and symptoms develop with age as more cells become damaged by the

accumulation of cell materials

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Niemann-Pick C disease – results in progressive neurological condition along with

enlargement of the spleen and liver, as well as lung disease

Pompe disease - an often fatal is presented in infancy with storage disease in which glycogen

builds up mainly in the heart, initially also known as acid maltase deficiency. If it manifests

in childhood and adulthood, Pompe can cause progressive shoulder, hips and respiratory

muscles

Metachromatic leukodystrophy and Krabbe disease – devastating LSD that result in

progressive and neurodegerative diseases. When presented in adulthodd are associated with

neuropathies and psychiatric problems.

Tay-Sachs disease - a LSD causing severe and progressive causing degeneration of the brain

in infants and nerve (pain and tactile sensation problems) and psychiatric problems in

adolescence and adults.

Incidence

The LSD are genetic disorders are rare. LSD incidence has shown recently to be 1/2,000-

3,000 live-births.

Because there are numerous specific deficiencies, storage diseases are usually grouped

biochemically by the accumulated metabolite. Subgroups include

Mucopolysaccharidoses

Sphingolipidoses (lipidoses)

Mucolipidoses

The most important are the mucopolysaccharidoses and sphingolipidoses.

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MUCOPOLYSARCIODOSES

Introduction

Mucopolysaccharidoses are group of metabolic disorders caused by the absence or

malfunctioning of lysosomal enzymes needed to breakdown molecules called

glycosaminoglycans- long chains of sugar carbohydrates in each of our cells that help build

bone, cartilage, tendons, corneas, skin and connective tissues. Glycosaminoglycans (formerly

called mucopolysaccharidoses) are also found in the synovial fluid.

People with a mucopolysaccharidoses disease either do not produce enough of one of the 11

enzymes required to break down sugar chain or they produce defective enzymes.

Over time, these glycosaminoglycans collect in the cells, blood and connective tissues. The

result is permanent, progressive cellular damage which affects appearance, physical abilities,

organ and system functioning, and, in most cases, mental development.

The mucopolysaccharidoses are part of the lysosomal storage disease family, a group of more

than 40 genetic disorders that result when a specific organelle in our bodies' cells – the

lysosome – malfunctions. The lysosome is commonly referred to as the cell’s recycling center

because it processes unwanted material into substances that the cell can utilize.

Lysosomes break down this unwanted matter via enzymes, highly specialized proteins

essential for survival. Lysosomal disorders like mucopolysaccharidoses are triggered when a

particular enzyme exists in too small an amount or is missing

Types

There are seven clinical types and subtypes of mucopolysaccharidoses depending on the type

of enzymes deficient

S.N Types Deficient enzymes Accumulated

products

1 MPS I

MPS IH-Hurler Syndrome

MPS IH/S- Hurler Scheie

Syndrome

MPS IS- Scheie Syndrome

α-L-iduronidase Heparan sulfate

Dermatan sulfate

2 MPS II – Hunters Syndrome Iduronate sulfatase Heparan sulfate

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3 MPS III

MPS IIIA- Sanfilippo syndrome A

MPS IIIB- Sanfilippo syndrome B

MPS IIIC- Sanfilippo syndrome C

MPS IIID- Sanfilippo syndrome D

Heparan sulfamidase

N-acetylglucosaminidase

Heparan-α-glucosaminide

N-acetyltransferase

N-acetylglucosamine 6-

sulfatase

Heparan sulfate

4 MPS IV

MPS IVA-Morquino Syndrome A

MPSIVB- Morquino Syndrome B

Galactose-6-sulfate

sulfatase

β-galactosidase

Keratan sulfate

Chondroitin 6-sulfate

Keratan sulfate

5 MPS IS- Scheie Syndrome

6 MPS VI - Maroteaux-Lamy Syndrome N-acetylglucosamine 4-

sulfatase

Dermatan sulfate

7 MPS VII- Sly Syndrome β-glucronidase Heparan sulfate

Dermatan sulfate

Chondroitin 4,6-

sulfate

9 MPSIX-Natowicz Syndrome Hyaluronidase Hyaluronic acid

1. MPS I

MPS I is divided into three subtypes based on severity of symptoms. All three types result

from an absence of, or insufficient levels of, the enzyme alpha-L-iduronidase. Children born

to an MPS I parent carry the defective gene.

MPS I H (also called Hurler syndrome or α-L-iduronidase deficiency), is the most

severe of the MPS I subtypes. Developmental delay is evident by the end of the first year,

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and patients usually stop developing between ages 2 and 4. This is followed by

progressive mental decline and loss of physical skills. Language may be limited due to

hearing loss and an enlarged tongue. In time, the clear layers of the cornea become

clouded and retinas may begin to degenerate. Carpal tunnel syndrome (or similar

compression of nerves elsewhere in the body) and restricted joint movement are

common.

Affected children may be quite large at birth and appear normal but may

have inguinal (in the groin) or umbilical (where the umbilical cord passes through the

abdomen) hernias. Growth in height may be faster than normal but begins to slow before

the end of the first year and often ends around age 3. Many children develop a short body

trunk and a maximum stature of less than 4 feet. Distinct facial features (including flat

face, depressed nasal bridge, and bulging forehead) become more evident in the second

year. By age 2, the ribs have widened and are oar-shaped. The liver, spleen, and heart are

often enlarged. Children may experience noisy breathing and recurring upper respiratory

tract and ear infections. Feeding may be difficult for some children, and many experience

periodic bowel problems. Children with Hurler syndrome often dies before age 10 from

obstructive airway disease, respiratory infections, and cardiac complications.

MPS I S, Scheie syndrome, is the mildest form of MPS I. Symptoms generally begin to

appear after age 5, with diagnosis most commonly made after age 10. Children with

Scheie syndrome have normal intelligence or may have mild learning disabilities; some

may have psychiatric problems. Glaucoma, retinal degeneration, and clouded corneas

may significantly impair vision. Other problems include carpal tunnel syndrome or other

nerve compression, stiff joints, claw hands and deformed feet, a short neck, and aortic

valve disease. Some affected individuals also have obstructive airway disease and sleep

apnea. Persons with Scheie syndrome can live into adulthood.

MPS I H-S, Hurler-Scheie syndrome, is less severe than Hurler syndrome. Symptoms

generally begin between ages 3 and 8. Children may have moderate mental retardation

and learning difficulties. Skeletal and systemic irregularities include short stature,

marked smallness in the jaws, progressive joint stiffness, compressed spinal cord,

clouded corneas, hearing loss, heart disease, coarse facial features, and umbilical hernia.

Respiratory problems, sleep apnea, and heart disease may develop in adolescence. Some

persons with MPS I H-S need continuous positive airway pressure during sleep to ease

breathing. Life expectancy is generally into the late teens or early twenties.

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1 in 100,000 babies born has Hurler syndrome. The estimate for Scheie syndrome is one

in 500,000 births and for Hurler-Scheie syndrome it is one in 115,000 births.

My patient was diagnosed with MPS IS- Scheie Syndrome

2. MPS II

MPS II, Hunter syndrome or iduronate sulfatase deficiency, is caused by lack of the

enzyme iduronate sulfatase. Hunter syndrome has two clinical subtypes and (since it

shows X-linked recessive inheritance) is the only one of the mucopolysaccharidoses in

which the mother alone can pass the defective gene to a son. The incidence of Hunter

syndrome is estimated to be 1 in 100,000 to 150,000 male births.

3. MPS III

MPS III, Sanfilippo syndrome, is marked by severe neurological symptoms. These

include progressive dementia, aggressive behavior, hyperactivity, seizures,

some deafness and loss of vision, and an inability to sleep for more than a few hours at a

time. This disorder tends to have three main stages. During the first stage, early mental

and motor skill development may be somewhat delayed. Affected children show a

marked decline in learning between ages 2 and 6, followed by eventual loss of language

skills and loss of some or all hearing. Some children may never learn to speak. In the

syndrome's second stage, aggressive behavior, hyperactivity, profound dementia, and

irregular sleep may make children difficult to manage, particularly those who retain

normal physical strength. In the syndrome's last stage, children become increasingly

unsteady on their feet and most are unable to walk by age 10.

Thickened skin and mild changes in facial features, bone, and skeletal structures become

noticeable with age. Growth in height usually stops by age 10. Other problems may

include narrowing of the airway passage in the throat and enlargement of

the tonsils and adenoids, making it difficult to eat or swallow. Recurring respiratory

infections are common.

There are four distinct types of Sanfilippo syndrome, each caused by alteration of a

different enzyme needed to completely break down the heparan sulfate sugar chain. Little

clinical difference exists between these four types but symptoms appear most severe and

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seem to progress more quickly in children with type A. The average duration of

Sanfilippo syndrome is 8 to 10 years following onset of symptoms. Most persons with

MPS III live into their teenage years, and some live longer.

Sanfilippo A is the most severe of the MPS III disorders and is caused by the missing

or altered enzyme heparan N-sulfatase. Children with Sanfilippo A have the shortest

survival rate among those with the MPS III disorders.

Sanfilippo B is caused by the missing or deficient enzyme alpha-N-

acetylglucosaminidase.

Sanfilippo C results from the missing or altered enzyme acetyl-CoAlpha-

glucosaminide acetyltransferase.

Sanfilippo D is caused by the missing or deficient enzyme N-acetylglucosamine 6-

sulfatase.

The incidence of Sanfilippo syndrome (for all four types combined) is about one in

70,000 births.

4. MPS IV

MPS IV, Morquio syndrome, is estimated to occur in 1 in 700,000 births. Its two

subtypes result from the missing or deficient enzymes galactose 6-sulfate sulfatase (Type

A) or beta-galactosidase (Type B) needed to break down the keratan sulfate sugar chain.

Clinical features are similar in both types but appear milder in Morquio Type B. Onset is

between ages 1 and 3. Neurological complications include spinal nerve and nerve root

compression resulting from extreme, progressive skeletal changes, particularly in the ribs

and chest; conductive and/or neurosensitive loss of hearing and clouded corneas.

Intelligence is normal unless hydrocephalus develops and is not treated.

Physical growth slows generally around the age of 18 months, and stops completely by

the age of 8. Skeletal abnormalities include a bell-shaped chest, a flattening or curvature

of the spine, shortened long bones, and dysplasia of the hips, knees, ankles, and wrists.

The bones that stabilize the connection between the head and neck can be malformed

(odontoid hypoplasia); in these cases, a surgical procedure called spinal cervical bone

fusion can be lifesaving. Restricted breathing, joint stiffness, and heart disease are also

common. Children with the more severe form of Morquio syndrome may not live beyond

their twenties or thirties.

26

5. MPS VI

Children with MPS VI, Maroteaux-Lamy syndrome, usually have normal intellectual

development but share many of the physical symptoms found in Hurler syndrome.

Caused by the deficient enzyme N-acetylgalactosamine 4-sulfatase, Maroteaux-Lamy

syndrome has a variable spectrum of severe symptoms. Neurological complications

include clouded corneas, deafness, thickening of the dura (the membrane that surrounds

and protects the brain and spinal cord), and pain caused by compressed or traumatized

nerves and nerve roots.

Growth is normal at first but stops suddenly around age 8. By age 10 children have

developed a shortened trunk, crouched stance, and restricted joint movement. In more

severe cases, children also develop a protruding abdomen and forward-curving spine.

Skeletal changes (particularly in the pelvic region) are progressive and limit movement.

Many children also have umbilical or inguinal hernias. Nearly all children have some

form of heart disease, usually involving valve dysfunction.

An enzyme replacement therapy was tested on patients with MPS VI and was successful

in that it improved growth and joint movement. An experiment was then carried out to

see whether an injection of the missing enzyme into the hips would help the range of

motion and pain.

6. MPS VII

MPS VII, Sly syndrome, one of the least common forms of the mucopolysaccharidoses,

is estimated to occur in fewer than one in 250,000 births. The disorder is caused by

deficiency of the enzyme beta-glucuronidase. In its rarest form, Sly syndrome causes

children to be born with hydrops fetalis, in which extreme amounts of fluid are retained

in the body. Survival is usually a few months or less. Most children with Sly syndrome

are less severely affected. Neurological symptoms may include mild to moderate mental

retardation by age 3, communicating hydrocephalus, nerve entrapment, corneal clouding,

and some loss of peripheral and night vision. Other symptoms include short stature, some

skeletal irregularities, joint stiffness and restricted movement, and umbilical and/or

inguinal hernias. Some patients may have repeated bouts of pneumonia during their first

years of life. Most children with Sly syndrome live into the teenage or young adult years.

27

7. MPS IX

The disorder results from hyaluronidase deficiency. Symptoms included nodular soft-

tissue masses located around joints, with episodes of painful swelling of the masses and

pain that ended spontaneously within 3 days. Pelvic radiography showed multiple soft-

tissue masses and some bone erosion. Other traits included mild facial changes, acquired

short stature as seen in other MPS disorders, and normal joint movement and intelligence.

Causes

Mucopolysaccharidosis (MPS) is a group of diseases that are also classified as lysosomal

storage diseases. Lysosomes are compartments in the cell that contain various enzymes that

degrade (break down) molecules. In MPS, glycosaminoglycans or mucopolysaccharides are

not degraded.

Glycosaminoglycans are polysaccharides, or long-chain sugars, that normally help the growth

of bone, skin, tendons, connective tissues, and eyes. Glycosaminoglycans are also typically

found in the fluid that surrounds joints. When they are not broken down, glycosaminoglycans

may cause progressive cellular damage.

Normally, a gene (specific region of DNA) provides the body with instructions on how to

make an enzyme. There are 11 enzymes involved in the breakdown of glycosaminoglycans.

A deficiency or absence of any one of the enzymes may cause MPS, but only seven have

been found to occur in humans. The type of MPS is classified by the enzyme that is deficient.

The most likely pattern of inheritance is autosomal recessive although some types of MPS

may be inherited as an X-linked dominant trait.

MPS I: MPS I is caused by a deficiency of the enzyme alpha-L-iduronidase.

MPS II: MPS II is caused by a deficiency of the enzyme iduronate sulfatase. This is the only

form of MPS that is X-linked dominant.

MPS III: MPS III is caused by a deficiency of an enzyme that breaks down heparan sulfate.

There are four subtypes of MPS III, and they are types A, B, C, and D. Type A affects the

enzyme heparan N-sulfatase, B affects alpha-N-acetylglucosaminidase, C affects acetyl-CoA

alpha-glucosaminide acetyltransferase, and D affects N-acetylglucosamine 6-sulfatase.

28

MPS IV: MPS IV is caused by a deficiency of an enzyme that breaks down keratin sulfate.

There are two subtypes of MPS IV. Type A affects the enzyme N-acetylgalactosamine 6-

sulfatase and type B affects beta-galactosidase.

MPS VI: MPS VI is caused by a deficiency of the enzyme N-acetylgalactosamine 4-

sulfatase.

MPS VII: MPS VII is caused by a deficiency of the enzyme beta-glucuronidase.

MPS IX: MPS IX is caused by a deficiency of the enzyme hyaluronidase.

Autosomal recessive inheritance: Most types of mucopolysaccharidosis (MPS) are

autosomal recessive disorders that are inherited at birth. MPS II or Hunter syndrome is the

only form of MPS that is X-linked dominant. In a recessive genetic disorder, a person must

inherit two copies of the genetic mutation (one copy from each parent) to develop MPS.

People who inherit a mutation from only one parent are called "carriers," and they may pass

the mutation to their children.

If only one parent has one copy of the mutated gene, then each child will have a 50% chance

of inheriting one mutated gene and also being a carrier. If both parents are carriers, each child

has a 25% chance of inheriting two mutated genes, a 50% chance of inheriting only one

mutation, and a 25% chance of inheriting neither of the mutations.

If one parent has MPS and the other parent does not carry the trait, then all of the children

will be carriers. If one parent has MPS and the other parent is a carrier, then each child has a

50% chance of having MPS or of being a carrier. If both parents have MPS, then all of their

children will also have MPS.

X-linked dominant inheritance: MPS II or Hunter syndrome is an X-linked dominant

inherited genetic condition. Normal individuals have two copies of most genes (one inherited

from the father and one from the mother). In a dominant genetic disorder, only one copy of a

certain gene needs to be defective for the condition to manifest. It has been shown that a

deficiency or mutation in the enzyme iduronate sulfatase, which is located on the X

chromosome, may cause MPS II.

Females have two copies of the X chromosome, but males have one X chromosome and one

Y chromosome. Males inherit an X chromosome from the mother and a Y chromosome from

the father, so a male can only inherit MPS II from the mother. A female needs to inherit two

29

mutant copies to develop MPS II (one from each parent), whereas a male only needs to

inherit one mutant copy to develop the condition. MPS II is more common in males that

females. Females who inherit only one mutant copy are called "carriers." Females who are

carriers may exhibit some mild symptoms.

Random occurrence: It is unknown whether MPS can occur as the result of a spontaneous

genetic mutation with no family history of the disease.

Risk Factors

Mucopolysaccharidosis (MPS) is a disorder caused by genetic errors, or mutations, in any of

the genes that produce the enzymes responsible for glycosaminoglycan degradation. Because

MPS is inherited, a family history of the disorder is the primary risk factor for MPS.

Autosomal recessive inheritance: Most types of mucopolysaccharidosis (MPS) are inherited

as autosomal recessive traits. MPS II or Hunter syndrome is the only form of MPS that is X-

linked dominant. A person must inherit two copies of the genetic mutation (one copy from

each parent) to develop a recessive form of MPS. People who inherit a mutation from only

one parent are called "carriers," and they may pass the mutation to their children.

If only one parent has one copy of the mutated gene, then each child will have a 50% chance

of inheriting one mutated gene and also being a carrier. If both parents are carriers, each child

has a 25% chance of inheriting two mutated genes, a 50% chance of inheriting only one

mutation, and a 25% chance of inheriting neither of the mutations.

If one parent has MPS and the other parent does not carry the trait, then all of the children

will be carriers. If one parent has MPS and the other parent is a carrier, then each child has a

50% chance of having MPS and a 50% chance of being a carrier. If both parents have MPS,

then all of their children will also have MPS.

X-linked dominant inheritance: MPS II or Hunter syndrome is an X-linked dominant

inherited genetic condition. Normal individuals have two copies of most genes (one inherited

from the father and one from the mother). A person needs to inherit only one copy of the

defective gene to develop a dominant disease. A deficiency or mutation in the enzyme

iduronate sulfatase, which is located on the X chromosome, may cause MPS II.

Females have two copies of the X chromosome, but males have one X chromosome and one

Y chromosome. Males inherit an X chromosome from the mother and a Y chromosome from

30

the father, so a male can only inherit MPS II from the mother. Therefore, a female needs to

inherit two mutant copies to develop MPS II (one from each parent), whereas a male only

needs to inherit one mutant copy to develop the condition. MPS II is more common in males

that females. Females who inherit only one mutant copy are called "carriers." Female carriers

may exhibit some mild symptoms.

Pathophysiology

Lysosomal malfunction occurs as a result of mutation in genes

As a result of which patient do not produce enough of one of 11 enzymes/ produce

defective enzymes

Enzymes are specialized for breaking down a complex sugar chain called

glycosoaminoglycans (formerly called mucopolysaccharides)

These complex form of Glycosomainoglycans cannot be consumed by body thus over

the time these glycosoaminoglycans collect in cells, blood and connective tissue

Results in permanent progressive cellular damage which

affects appearance, physical activities, interferes in abilities of organs and system

functioning and mental development

31

Clinical features

clinical features may have varying degree of severity. These features may not be apparent at

birth but progress as deposition of glycosoaminoglycans increases and can affect bone,

structural structure, connective tissues and organs.


Neurological complications – pain, tremors and

impaired motor function (results from compression

of nerves or nerve roots in CNS and PNS)

✓

Fine tremors present throughout limbs

Normal intellect or impaired cognitivity Impaired cognitivity

Developmental delay ✓

Severe behavioral problems X

Hearing loss (conductivity/ neurosensitivity or

both)

✓

Communicating hydrocephalus (normal absorption

of CSF is blocked)

X

Coarse Facial Features (including flat Nasal bridge,

thick lips, and enlarged mouth and tongue)

✓

Corneal clouding ✓

Degeneration of retina ✓

Decreased visual acquity ✓

Short stature with disproportionate short trunk Short stature but proportionate trunk

Dysplasia (abnormal bone size and shape or other

skeletal abnormalities)

Present scilosis present in spine with

concavity towards right side

Thickened skin X

Enlarged organs such as hepatomegaly or

spleenomegaly, hernias, excessive hair growth

X

Short and claw like hands X

Progressive joint stiffness and carpal tunnel

syndrome

X

Recurrent respiratory infections (obstructive airway

diseases)

X

Heart disease- enlarged heart valves X

32

Picture showing: skeletal abnormalities

left (scoliosis of spine with concavity towards right in lumbar region)

Right (pigeon shaped chest with pectus excavation bilateral)

Picture showing coarse facial feature flat nasal bridge, abnormal contour of head and dental

spacing

33

Diagnosis


History taking ✓

Physical examination ✓

urine tests (excess mucopolysaccharides are

excreted in the urine)

✓

Enzyme assays (testing a variety of cells or

body fluids in culture for enzyme deficiency)

X

Prenatal diagnosis

using amniocentesis and chorionic villus

sampling

X

Xrays (skeletal deformities) ✓

USG abdomen (enlarged organs) X

CT scans (head) X

MRI head

Skeletal scans/ survey

EEG

Echocardiogram

Complete blood count

Biochemistry (sodium, potassium, urea,

creatinine)

Thyroid function tests

MSE (Mental Status Examination)

Echocardiogram ✓

34

Investigations Results

Investigations Findings in my patient Normal values

Complete blood count:

TC

DC

- Polymorphs

- Lymphocytes

- Monocytes

- Eiosinophils

HB

Platelets

3800cu/mm

47

50

01

02

12.5 gm/dl

130,000cu/mm

3500-12,000 cu/mm

11.2-16.5 g/dL

150,000-400,000 cum/mm

Biochemistry

- Urea

- Creatinine

- Sodium

- Potassium

- Calcium

10 mmol/L

0.6 mmol/L

135 mEq/L

4.9 mEq/L

7.8 mEq/L

2.5–6.0 mmol/L

0.3–1.0 mmol/L

135–148 mmol/L

3.5–5.8 mmol/L

4.4–5.3 mEq/L

Thyroid function tests

- T3

- T4

- TSH

7.7

18

4.7

4.8–11.5

10–20

0.37–6.00

Bone survey

Xray hand and spine : NAD, bone age 6-8 years

Xray chest (AP and lumbar spine) : small round sclerotic changes in L1 vertebra, round,

kyphotic changes at L1, Small round sclerotic L1 vertebra with focal (developmental)

Xray wrist/ spine: appearance of epiphyseal plates of scaphoid, trapezium and trapezoid

suggesting bone age >6 years

No appearance of epiphyseal plate for distal ulnar suggesting bone age <8 years

Non appearance of epiphyseal plate for pisiform bone suggesting bone age of <11 years

therefore bone age of patient: 6-8 years

rest visible bone normal

35

MRI: normal brain structure, prominent bilateral temporal horns

EEG: Abnormal EEG consistent with temporal lobe epilepsy

Opthalmmological Examination: bilateral corneal clouding and cherry red spot on retina

ENT examination: decreased hearing on both ears

Mental Status Examination: decreased intellectuality and impaired cognivity

COMPLICATIONS

Cervical spine myelopathy

Mental retardation

Valvular dysfunction,

Hypertension,

Congestive heart failure

Sudden cardiovascular collapse and death

Sleep apnea to severe respiratory compromise and cor pulmonale.

Significant loss of visual acuity. Glaucoma and chronic papilledema

Deafness

Middle ear infections,

deformity of the ossicles, and abnormalities of the inner ear.

Short stature

Joint stiffness

Hyperlaxity

Carpal tunnel syndrome

Hip dysplasia

Severe skeletal deformities

36

Management

Currently there is no cure for these disorders. Medical care is directed at treating systemic

conditions and improving the person's quality of life. Physical therapy and daily exercise

may delay joint problems and improve the ability to move.

Changes to the diet will not prevent disease progression, but limiting milk, sugar, and dairy

products has helped some individuals experiencing excessive mucus.

Surgery to remove tonsils and adenoids may improve breathing among affected individuals

with obstructive airway disorders and sleep apnea. Sleep studies can assess airway status and

the possible need for nighttime oxygen. Some patients may require surgical insertion of an

endotrachial tube to aid breathing. Surgery can also correct hernias, help drain excessive

cerebrospinal fluid from the brain, and free nerves and nerve roots compressed by skeletal

and other abnormalities. Corneal transplants may improve vision among patients with

significant corneal clouding.

There various clinical trials for the treatment of MPS I though currently, no specific

treatment exists for MPS I. Allogeneic bone marrow transplantation is the treatment of choice

for selected MPS IH patients, but the outcomes vary widely and the procedure has associated

risks, including increased morbidity and mortality. BMT, however, has been shown to slow

or reverse some of the features of the disease.

1. Enzyme replacement therapy (ERT) are currently in use or are being tested. Enzyme

replacement therapy has proven useful in reducing non-neurological symptoms and pain.

In both human studies recombinant iduronidase (rhIDUA) was given as a weekly infusion in

a dose of 100 units per kg per week (0.58 mg/kg/week).

An open label study in 10 patients14 showed that hepatosplenomegaly decreased

significantly in all patients, and the size of the liver was normal for body weight and age in

eight patients by 26 weeks. The rate of growth in height and weight increased by a mean of

85 and 131 percent, respectively, in the six prepubertal patients. The mean maximal range of

motion of shoulder flexion and elbow extension increased significantly. The number of

episodes of apnea and hypopnea during sleep decreased by 61 percent. New York Heart

Association functional class improved by one or two classes in all patients. Urinary

37

glycosaminoglycan excretion decreased after 3 to 4 weeks of treatment; the mean reduction

was 63 percent of base-line values.

2. Haematopoetic Stem Cell Transplant

3. Bone marrow transplantation (BMT) and umbilical cord blood

transplantation (UCBT) have had limited success in treating the mucopolysaccharidoses.

4. Other trials

Aldurazyme

100U/kg/week in 100 mls normal saline <20 kgs

100U/kg/week in 250 mls normal saline >20 kgs

The dosage should be rounded up or down to the nearest complete vial to prevent wastage.

Dosages may alternate from week to week to get as close to 200U/kg/2weeks without wasting

drug.

Infusion is initially given over 4 hours. Pre-medication with antihistamines and antipyretics at

prescriber’s discretion. The length of time of infusions can be slowly reduced after the 8th

infusion to 2 hours assuming there are no infusion associated reactions.

Follow up

Patients will be reviewed every 3 - 6 months in out-patients.

Each visit:

Clinical examination and vital signs

Urine glycosaminoglycans

Other baseline investigations may need to be repeated if clinically indicated

12 months (and annually thereafter):

All baseline investigations (with the exception of routine radiology) are repeated unless there

is a clinical need to repeat them more frequently.

In My patient:

No specific treatment was done in my patient for Mucopolysaccharidoses.

However for treatment of epilepsy patient was prescribed sodium valporate 200mg BD

38

Drugs used in My Patient

Sodium valporate (encorate chrono) 200mg BD

DRUG PLAN

Sodium Valporate

It is used for all types of epilepsy alone or in combination. It increases Phenobarbital and

decreases phenobarbitone blood levels on simultaneous administration

Trade Name: Encorate Chrono

Generic Name: Valproic Acid

Group Name: Anti-convulsants

Mechanism of action

It acts by inhibiting GABA transaminase thus increasing the concentration of GABA, an

inhibitory transmitter in CNS

Indication

All form of epilepsy (grandma, focal, psychomotor) except absence seizure (petmal);

trigeminal neuralgia

Preparation

Tablet: 200mg, 400mg

syrup: 100mg/ml

Dosage

Initially 10mg/day orally, increasing slowly to 20-30mg/kg/day in divided doses

39

Adverse effect

drowsiness, diplopia, vertigo, araxia, blurred vision, GI upset, skin reaction,

lymphadenopathy, eosinophilia, splenomegaly, agarnulocytosis, aplastic anemia, edema, liver

and kidney toxicity, cholestatic jaundice

Contraindication

A-V conduction defects, history of previous bone marrow depression

Precaution

Pregnancy, lactation, imapairment of hepatic function

Nursing implication

- Tell patient that drug may cause GI distress so should take drug with food at equally spaced

intervals

- Warn patients not to stop using drug abruptly

- Encourage patient to promptly report unusual bleeding, jaundice, ddark urone, pale stools

etc.

40

41

Nursing Management

Assessment

a. History Taking: including patient’s chief complain, present health status, birth history,

family history, sign and symptoms

b. Physical Examination:

Presence of fine tremors in whole body. Decreased muscle mass and strength, progressive,

progressive deterioration of cognitivity, coarse facial features, presence of scoliosis in lumbar

region, pigeon shaped chest, dental spacing, impaired hearing, decreased visual acquity and

presence of corneal clouding

C .Investigations

Complete blood count (TC, DC, Hb, ESR), Urea, Creatinine, Xray, MRI, EEG,

Echocardiogram, MRI

Nursing Diagnosis

- Self care deficit related to inability to carryout ADLS / tremors

- Impaired physical mobility related to weakness of bones and muscles

- Risk for injury related to tremors and episodic seizure

- Diversional therapy deficient related to hospitalization

- Altered family process related to prognosis of disease

Planning / goal

the major goal is to prevent injury from seizure, encourage and assist patient on Activities Of

Daily Livings (ADLS), increase mobility and provide pshycological support to patient

Interventions

1. Self care deficit

- Assess client level to perform ADLS

- Assist client with daily activities

- Provide positive reinforcement during activity.

- Allow patient to perform tasks at his or her own rate

- Encourage independent activity as able and safe

2. Impaired physical mobility

-Assess client extent of mobility42

- Perform passive or active assistive ROM exercises to all extremities

- Encourage appropriate use of assistive devices

-Encourage physical activities

- Assist patient on ambulation

3. Risk for injury

-Assess patient for safety

- Provide crutch or stick for support while walking and climbing stairs

-Monitor seizure activities

- Keep side rails for safety of patient

4. Diversional therapy deficient

- Assess leisure activity preferences.

-Spend more time with patient

-seek help from family to relieve boredom and stimulate interest

- provide play material appropriate to his age group

5. Altered family process

-Provide psychological support to patient’s family

-provide knowledge regarding disease process and it’s prognosis

-Respond to all queries of patient family

-encourage to express verbalize their anxiety and feelings

APPLICATION OF NURSING THEORY

While providing care to my patient, I applied Orem’s Theory of Nursing.

43

Orem’s Theory consists of

1. Theory of self care

2. Theory of self care deficit

3. Theory of Nursing System

My patient Biplav Dhital, 13years male was admitted on Medical ward

of Kanti Children’s Hospital with diagnosis of Mucopolysaccharidoses was alert and

conscious however he had difficulty carrying out his daily activities due to presence of fine

tremors throughout the body and generalized weakness, Thus, I applied Orem’s theory as it

appeared to be the best possible theory to meet my client’s need while providing nursing care.

Orem’s Theory of Nursing Care

Orem’s theory of nursing has three related theories

1. Theory of self care

2. Theory of self care deficit and

3. Theory of nursing system

Though my patient had difficulty carrying out his daily activities smoothly he however was

capable of doing it thus, I figured out theory of nursing system as most suitable theory for

caring my patient

Theory of nursing system.

It describes how the patients self care needs will be met by the nurse, patient and both

It identifies three classifications of nursing system to meet the self care requisites of the

patient

- Wholly compensatory system

- Partly compensatory system

- Supportive- educative system

Wholly compensatory nursing system is represented by a situation in which the individual is

unable to engage in self care actions requiring self directed and controlled ambulation and

manipulative movement or the medical prescription to refrain from such activities

Person with these limitations are socially dependent on others for their continued existence

and wellbeing. Example patient in coma

44

Partly compensatory nursing system represented by a situation in which both nurse and

patient perform care measures or other action involving manipulative tasks or ambulation.

Either patient or nurse may have major role in performance of self care measures. Examples a

person who recently had surgery

Supportive- educative system: in this system the person is able to perform or can and should

learn to form required measures of externally or internally oriented therapeutic self care but

cannot do so without assistance. This is also known a supportive developmental system.

In this system patient is doing all of his self care. The patient’s requirements for help are

confined to decision makings behavior control, and acquiring knowledge and skills.

The nurse’s role is to promote the patient as a self care agent. Example chronic disease

patients like hypertension

I applied partly compensatory nursing theory by

- Providing morning care

- Medication

- Maintaining personal hygiene

- Providing safe environment

And I applied supportive educative theory by

- Providing information about disease condition

- Medication

- Complication and it’s prognosis

- Home based management of disease and possible risks

- Diet

- Follow up

- Psychological support to both parent and child

Nursing Care Plan

Patient’s Identification

45

Name of Patient: Biplav Dhital

Age:13 years Sex: Male

Cast: Brahmin Religion: Hindu

Ward: Medical Bed No:343

IP No: 85169

Date Of Admission: 2070/4/11

Medical Diagnosis: Mucopolysaccharidoses

Assessment

My patient Biplav Dhital, 13years male was admitted on Medical ward of Kanti

Children’s Hospital with diagnosis of Mucopolysaccharidoses with chief complain of

generalized weakness since 1 year, progressive deterioration of school performance,

involuntary body movement for 1 and half hour 10 days prior to day of admission

Patient had history of involuntary body movement 1 episode for one and half an hour






symptoms.

Nursing Diagnosis

- Self care deficit related to inability to carryout ADLS / tremors

- Impaired physical mobility related to weakness of bones and muscles

- Risk for injury related to tremors and episodic seizure

- Diversional therapy deficient related to hospitalization

- Altered family process related to prognosis of disease

46

S.

N

Date Assessment Nursing Diagnosis Nursing goal Intervention Rationale Evaluation

1. 4/13 Subjective data

“his body trebles

all the time so

his sister helps

him to hid

works”

Objective data

Fine tremors all

over the body,

uncoordinated

and exaggerated

reflexes

Self care deficit

related to inability

to carryout ADLS /

tremors

-Assist patient

on Activities Of

Daily Livings

(ADLS)

-Assess client level to

perform ADLS

- Assist client with

daily activities

- Provide positive

reinforcement during

activity.

- Allow patient to

perform tasks at his or

her own rate

- Encourage

independent activity as

able and safe

-To obtain baseline

data and evaluate

patient’s ability

-To maintain hygiene

and promote comfort

- To encourage client

and build positive

attitude

- To maintain clients’

esteem

-To promote client’s

ability

Goal met

patient was

assisted on

ADLs and

encouraged to

carry out

activities

independently

47

2 4/15 Subjective data

“he cannot walk

alone, he falls

whenever tries

walking alone”

Objective data

Has difficulty

walking and

doesn’t walk

alone

Impaired physical

mobility related to

weakness of bones

and muscles

Increase

mobility within

ward by one

hour

-Assess client extent of

mobility

- Perform passive or

active assistive ROM

exercises to all

extremities

- Encourage

appropriate use of

assistive devices

-Encourage physical

activities

- Assist patient on

ambulation

-To obtain baseline

data to evaluate

condition of client

-To prevent from

atrophy of muscles

and prevent further

complications

-promotes ambulation

of patient

-Prevent

complications caused

by decreased physical

activities like

constipation

-To encourage and

promote physical

activities

Goal met

patient was

mobilized and

was

encouraged to

do physical

activities

whenever

possible.

48

3 4/15 Subjective data

he cannot walk

alone, he falls

whenever tries

walking alone”

Objective data

Has difficulty

walking and

doesn’t walk

alone

Risk for injury

related to tremors

and episodic

seizure

Prevent from

fall injuries

during hospital

stay i.e 7days

- Assess patient for

safety

- Provide crutch or

stick for support while

walking and climbing

stairs

-Monitor seizure

activities

- Keep side rails for

safety of patient

-To obtain baseline

data and evaluate

patients condition

- It provides support

while walking

-To prevent possible

injuries caused by

seizure

My goal was

met as patient

remained free

from injuries

during his

hospital stay

4 4/13-

4-21

Subjective data

“I feel bore

lying down in bd

all day”

Objective data

Spent most of

his time sleeping

Diversional therapy

deficient related to

hospitalization

Patient will

express his

interest in using

leisure time

meaningfully

-Assess leisure activity

preferences.

-Spend more time with

patient

-seek help from family

to relieve boredom and

stimulate interest

- provide play material

appropriate to his age

-to figure out patient’s

likes and dislikes

- to accompany him

and relieve boredom

-to engage him in

different mind

diverting activities

-to promote mental

Goal was met

Patient

showed so

sign of anxiety

and boredom

during his

hospital stay

49

group development of child

as per his

developmental need

5. 4/16 Subjective data

“he is my only

son, I wish he

would be fine

again”

Objective data

Patient’s father

looked anxious

and sad

Altered family

process related to

prognosis of

disease

Reduce anxiety

and help family

cope with the

disease process

-Provide psychological

support to family

-provide knowledge

regarding disease

process and it’s

prognosis

-Respond to all queries

of patient family

-encourage to express

verbalize their anxiety

and feelings

-to reduce anxiety and

cope with the disease

process effectively

Goal was not

meet as the

patient was

diagnosed

with a genetic

disorder with

permanent

progressive

damage to

body system

50

Diversional Therapy

Hospitalization is one of the most stressful situations in childhood thus I used play therapy in

my patient as diversional therapy

Play is an integral part of a child’s life. From birth play helps children to learn, to relate to

others and to have fun. Play can enhance a children’s development physically, emotionally,

intellectually and linguistically. When children or adolescents are admitted to hospital they

are at their most vulnerable. They are not only unwell, but they are also separated from their

friends, family and familiar surroundings which may lead to increased stress.

Play therapy helps by following ways:

enhance the children’s understanding of their treatment and illness;

serve as a diversion to keep a child’s mind off pain and medical procedures;

assist healing and rehabilitation;

help children regain confidence and self esteem

allow children to participate in familiar activities that they would normally engage in

at home, kindergarten or school;

reassure the child that his/her body is still functioning

so in my patient as a play therapy I gifted a ludo and taught him how to play it despite that I

also asked his parents to buy him a book so that he could read it in his leisure time.

51

PROGRESS REPORT

When I first visited my case it was his second day of admission. He was admitted in

medical ward on 2070/4/11

Date Day Progress report Remarks

2070/4/1

3

2nd day of

admission

Vitals:

T-98ºf

p-80/m

R-26/m

Patient was well oriented to time,

place and person

Patient is in normal diet

Blood investigation sent (calcium)

2070/4/1

4

3rd day of

admission

Vitals:

T-96ºf

p-80/m

R-22/m

Patient was well oriented to time,

place and person

Patient is in normal diet

chest xray, spine and wrist xray

done to find out any skeletal

deformities

Serum Calcium report collected

Scilosis seen in

spine xray at L1

2070/4/1

5

4th day of

admission

Vitals:

T-99.2ºf

p-86/m

R-26/m

Patient went for othalmological

consultation

2070/4/1

6

5th day of

admission

Vitals:

T-98.6ºf

p-84/m

R-24/m

Patient went for ENT consultation

52

and follow up on eye consultation

2070/4/1

7

6th day of

admission

Vitals:

T-101ºf

p-88/m

R-26/m

Skeletal survey done

Time taken for MRI and EEG

2070/4/1

8

7th day of

admission

Vitals:

T-97.2ºf

p-86/m

R-20/m

EEG done

2070/4/1

9

8th day of

admission

Vitals:

T-97.4ºf

p-84/m

R-28/m

MRI done

2070/4/2

0

10th day of

admission

Vitals:

T-97.6ºf

p-84/m

R-24/m

EEG report collected (temporal

lobe epilepsy seen)

Sodium valporate 200 mg tablet

BD started

Urine sample sent for GAG

(glycosoaminoglycans test)

Echocardiography done

2070/4/2

1

Day of

discharge

Vitals:

T-96.8ºf

p-78/m

R-20/m

MRI report collected

Diagnosis confirmed

53

DISCHARGE TEACHING

My patient was diagnosed with genetic disorder which has no specific treatment and

its damage is permanent and progressive, however he also had an episode of epileptic

seizure which was later confirmed by EEG report as temporal lobe epilepsy. At the

time of discharge I gave discharge teaching to patient’s father focusing on

Follow up:

Patient was called on follow up to evaluate his neurological impairment at Neuro

OPD. I asked patient’s father to bring patient regularly on follow up at exact time

given by doctor

Safety:

As he was having continuous tremors and episodic seizure I advised visitor to take

good care of patient and never leave him alone if possible and make sure he is safe

when he has seizure episode. I also advised visitor to try not to wake patient up while

he is having seizure and bring him to hospital as soon as possible following seizure.

Diet:

I advised patient to eat balanced meal with adequately supplemented by

carbohydrates, vitamins, proteins and minerals. I encouraged to use locally available

and homemade dishes as much as possible

Medication:

I advised patient to keep compliance with medication and take medication regularly,

don’t quit medication without consulting doctor.

Take medication with food to decrease gastric upset

Sodium valporate 200 mg BD

54

Prognosis

The symptoms of Scheie syndrome (MPS IS) include joint stiffness, aortic valve disease,

mild hepatosplenomegaly, and corneal clouding. Scheie patients have little or no neurological

involvement, are usually of normal stature and can have a normal life span although most

have increasing physical disability and many will die in middle age predominantly of cardiac

disease though a number many develop fatal cervical cord compression. The onset of

symptoms is usually after five years, with a diagnosis between 10 and 20 years.

55

LESSON LEARNT

My patient Biplav Dhital, 13years male was admitted on Medical ward of Kanti

Children’s Hospital with diagnosis of Mucopolysaccharidoses on 2070/4/11 with chief

complain of generalized weakness since 1 year, progressive deterioration of school

performance, involuntary body movement for 1 and half hour 10 days prior to day

of admission

Patient had history of involuntary body movement 1 episode for one and half an hour






symptoms.

When I first came contact with the patient his diagnosis was still a query and it

followed various series of investigations as his features were quite distracting from

mainstream features of mucopolysaccharidoses though many features matched still

there were distinct features which didn’t match it’s criteria

During this course I got opportunity study a very rare genentic disease it’s various

types, clinical features and I got opportunity to compare it with my patient which

broadened my knowledge regarding this disease condition.

His physical features were distinct and because of which I gained keen interest on

going through this disease process thoroughly

Beside medical and pathological knowledge I also learnt to provide nursing care

based on a nursing theory to my patient, I got opportunity to use my theoretical

knowledge in pratical setting

56

SUMMARY

During my clinical practicum for child health nursing at Kanti Children’s Hospital

Maharajgunj, as per our curriculum I did a case study on 13 years male boy with diagnosis of

mucopolysaccharidoses in medical ward on 2070/4/11 with chief complain of generalized

weakness since 1 year, progressive deterioration of school performance, involuntary body

movement for 1 and half hour 10 days prior to day of admission As his diagnosis was on

query following investigations was done Complete blood count including TC, DC, Hb,

platelets, urea,cretinie, calcium, Xrays, bone survey, Urine for GAG, EEG, Echocardiography

During this case study I got opportunity to gain through knowledge regarding disease process

and apply nursing theory to provide comprehensive and holistic nursing care to the patient.

I got opportunity to gain knowledge regarding the growth and development of adolescent

I did a physical assessment of patient, assessed client’s condition and find out his need.

I provided different formal and informal education to client and family during the hospital

stay regarding personal hygiene, diet.

As my patient was diagnosed with a genetic disorder I also provided psychological support to

client and family and at the time of discharge I provided discharge teaching on follow up,

medication, client’s safety measure, diet and home based management of disease. He was

discharged from hospital once diagnosis was confirmed after 11 days stay on 2070/4/21.

57

References

Behrman R, Klieman R, Nelson’s Essential’s of Pediatrics, 6th edition, Saunders

Hockenberry J Marilyn, Wilson D, wong’s nursing care of infants and children. 8th edition, 2009,

Elsevier

Tuitui R, Pocket books of dugs, 4th eedition,2008, Makali Publication

http://en.wikipedia.org/wiki/Lysosomal_storage_disease

http://emedicine.medscape.com/article/1182830-overview#aw2aab6b6

https://igm.jhmi.edu/personal/lysosomal-storage-diseases

http://www.ncbi.nlm.nih.gov/books/NBK6177/

http://www.usask.ca/cme/articles/telehealth/LSD%20Booklet.pdf

http://www.merckmanuals.com/professional/pediatrics/inherited_disorders_of_metabolism/

lysosomal_storage_disorders.html

http://en.wikipedia.org/wiki/Mucopolysaccharidosis

http://ghr.nlm.nih.gov/condition/mucopolysaccharidosis-type-i

http://emedicine.medscape.com/article/1258678-overview

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Health & Medicine

Case Study on Mucopolysaccharidosis