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Clinical case presentation
Dr. Samten Dorji
Chief complaint• A 6 month old male child presented with
enlargement of right eye since birth.
Parents are from Samtse Dzongkhag. Father is working in private firm and mother is house wife
History of chief complaint• 6 month old male child has enlargement of right eyes
since birth. At the same time there was tearing and irritability when exposed to bright light.
• The baby then developed brownish patches on the right side of his face and whole body at the age of 25 days.
• At the age of 3 months baby was admitted to hospital for pneumonia and had episode of focal seizures.
• For further management of the eye condition baby was referred to Kolkata
• This time baby was admitted to our ward for a therapeutic procedure.
Systemic review• CVS= no shortness of breadth• RS= no cough, history of pneumonia• GIS= no loose stool or abdominal swelling• CNS= one episode of seizures• Genitourinary system= NAD• Musculoskeletal system= no deformities
Birth historyAntenatal history
• No illness during pregnancy• No history of rubella infection• First pregnancy
Natal history
• Full term normal vaginal delivery at Paro hospital
• No obstetric trauma• Uneventful
Post natal• Birth weight=3.3 kg
Developmental assessmentSocial/emotional development
Language development
Cognitive development
Physical development
• Can recognize strangers
• Likes to play with people
• Responds to name• Makes sounds to
show happiness and discomfort
• Looks around nearby things
• Tries to get things that are out of reach due to curiosity
• Head control is poor
History cont.Family history/social history
• Non consanguineous marriage• Age of mother=25 age of father=25• Mother has same pigmented patches in her body
Examination Right eye Left eyeBuphthalmos Normal
Visual acuity Doesn’t follow the light Follows the light
Anterior segment Corneal oedema normal
Extraocular movements Normal Normal
Pupil Cannot assess Round regular and reactive
IOP by Icare 40 mmhg 8 mmhg
Dilated Funduscopy Cannot assess NAD
Systemic examination• Multiple café au lait macules in face, trunk
and limbs. >10 (biggest macule=6mm)• CVS/RS/GIS/MSS= unremarkable
Case summary• 6 month old male child has enlargement of right eye
since birth associated with tearing and irritability when exposed to bright light. The baby then developed brownish patches on the right side of his face and whole body at the age of 25 days. At the age of 3 months baby had pneumonia and had episode of focal seizures. Developmental assessment showed poor head control. His mother also have same pigmented patches like him. On general examination baby has multiple café au lait macules in face, body and limbs. On eye examination left eye is normal. In right eye baby has buphthalmos with corneal oedema and IOP 40 mmhg.
Problems 1. Right eye buphthalmos with corneal
oedema and increased IOP2. Café au lait macules in face, trunk and
limbs with first degree relative association3. Seizure disorder4. Gross motor delay
Diagnosis • Secondary congenital glaucoma
associated with neurofibromatosis type 1Differential diagnosis
• Congenital megalocornea• Trauma during birth
Investigation
Investigation • RFT and LFT= normal range• X ray upper limb and lower limb= normal • USS of whole abdomen= normal
Management • Latanoprost and timolol eye drops• Cyclocryo therapy• Paediatrcian follow up
Congenital glaucomaNeurofibromatosis
Subject review
Congenital glaucoma• Introduction• Epidemiology• Aetiology• Pathophysiology• Clinical features• Evaluation• Differential diagnosis• Management
Introduction Definition: Glaucoma that arises in children <2 years of age.
Secondary infantile glaucomaAssociated with a variety of ocularand systemic syndromes and with surgical aphakia.
Primary infantile glaucomaThe result of isolated abnormal development of the anterior chamber angle structures.
Epidemiology Country Incidence United states Between 1:10000 and 1:15000 live births
Northern Ireland 1:22000 live births
Saudi Arabia 1:2500 live births
Romania 1:1250 live births
North America and Europe More common in boys
Japan More common in girls
Secondary glaucomas > primary glaucomas
Aetiology • Primary congenital glaucoma• Aphakic glaucoma• Sturge-Weber syndrome• Anterior segment dysgenesis• Lowe syndrome• Congenital rubella• Aniridia • Neurofibromatosis, Weill-Marchesani syndrome,
Rubinstein-Taybi syndrome, Covert trauma, Steroid induced infantile glaucoma
Pathophysiology of primary congenital glaucoma
? Mutations in the gene for cytochrome P-450 1B1 (CYP1B1)
• Impaired aqueous outflow due to maldevelopment of the angle of anterior chamber
True congenital glaucoma(intra uterine
life)
Infantile glaucoma(<2 years)
Juvenile glaucoma(2 to 16 years)
Pathophysiology in secondary glaucomas
Presentation at or shortly after birth indicates a profound developmental abnormality of the anterior chamber angle, whereas presentation later in life usually suggests a different process.
• Angle closure: persistent hyperplastic primary vitreous, retinopathy of prematurity, or retinoblastoma
• Open angle: corticosteroid-induced and chronic uveitic glaucomas
Aphakic glaucoma: Retained lens material and presence of a small cornea
Clinical features
Corneal oedema Acute corneal hydrops
epiphora
blepharospasmphotophobia
Haab’s striae
Corneal diameter(>12mm)
Children >2 years
• Decreased visual acuity • Strabismus • Progressive unilateral myopia
Evaluation Under general anaesthesia
IOPOptic disc Corneal diameter Gonioscopy
Koeppe diagnostic lens
• CDR >0.3• Asymmetry
USS for axial length
Differential diagnosisCorneal oedema or clouding
Epiphora/red eye
Photophobia Corneal enlargement
Obstetric birth trauma (“forceps injury”)
Nasolacrimal duct obstruction
Conjunctivitis Axial myopia
Rubella keratitis Conjunctivitis Iritis Megalocornea (X-linked or sporadic)
Metabolic disorders Trauma Microphthalmic fellow eye
Congenital hereditary endothelial dystrophy
Treatment Medical Surgical
• Oral carbonic anhydrase inhibitor• Topical carbonic anhydrase inhibitor• Topical beta- blocker• Prostaglandin analogs
• Goniotomy• Trabeculotomy• Trabeculectomy• Drainage implant surgery• Cyclocryotherapy or laser
cyclophotocoagulation
Course and outcome• Buphthalmos at birth= poor prognosis• Glaucoma in few months after birth= good prognosis and outcome
Neurofibromatosis • Introduction• Epidemiology and pathogenesis• Characteristics• Ocular manifestation• Mechanism of glaucoma• Investigation• Treatment
Introduction
Neurofibromatosis type 1 (von Recklinghausen’s
disease)Neurofibromatosis type 2
(central neurofibromatosis)
• Is a inherited disorder characterized by neuroectodermal tumours that arise within multiple organs
Epidemiology and pathogenesisNF type 1 NF type 2
Incidence 1 person per 3500-400 people 1 person per 40000-50000 people
Sex Male=female Male=female
Gene 17q11 22q12
Inheritance Autosomal dominant Autosomal dominant
Characteristics NF type 1At least 2 of the followingAt least six café au lait spots• 5mm pre pubertal or• 15mm post pubertalNeurofibromas • One plexiform neurofibroma• At least 2 of any other type
Intertrigenous freckling(axilla or groin)Optic nerve gliomaAt least two Lisch nodules (iris hamartomas)
Distinctive osseous dysplasia(sphenoid or tibial)Affected first-degree relative
NF type 2Either A or B
A. Bilateral acoustic nerve masses(CT or MRI)
B. Affected first-degree relative and
1. unilateral acoustic nerve mass2. at least two of the following• Neurofibroma• Meningioma• Glioma• Schwannoma• Juvenile posterior subcapsular
cataract
Café au lait spots Neurofibromas Lisch nodules
Intertrigenous frecklingOptic nerve glioma
Ocular manifestation
• Lisch nodules- melanocytic hamartomas of iris stroma
• Subcutaneous pedunculated and plexiform neurofibromas of the eyelids
• Optic nerve glioma- frequently involve optic chiasm causing bilateral visual loss and intracranial mass effects, in the orbit can cause progressive proptosis and optic atrophy
• Pulsating proptosis• Glaucoma • Multifocal choroidal nevi• Retinal tumors
NF type 1 NF type 2
• Hamartomas of the retina• Juvenile posterior subcapsular or• Cortical lens opacities
Mechanism of glaucoma• Obstruction of aqueous outflow by
neurofibromatous tissue in the angle• Developmental angle which maybe
associated with congenital ectropion uveae• Secondary angle-closure caused by forward
displacement of peripheral iris associated with neurofibromatous thickening of ciliary body
• Secondary synechial angle-closure caused by contraction of a fibrovascular membrane.
Investigation
MRI and CT of orbit and brain
EEG and audiography
Treatment
• Neonates with an eyelid plexiform neurofibroma should be followed up frequently
According to findings
Course and outcome
• Reduced life expectancy• systemic hypertension, cancer, and expansive growth of benign intracranial
neoplasms• neurofibrosarcoma, other sarcomas, leukemias, and lymphomas, occur with
increased frequency in patients who have NF-1• In patients with NF-2, the main cause of early death is expansion of a CNS
neoplasm• Unilateral or bilateral blindness
Thank you