Pediatric Atlas

8/2/2019 Pediatric Atlas

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Indire cases, platelet transfusions (bolus followed by

continuous

infusion) or even recombinant human factor VIIa couldbe

added. Thrombopoietic agents might also have a rolein

combination therapy, although they generally requireat least

5 to 8 days to increase the platelet count


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1-The patient suffers from :bilateral cataract, glaucoma and

sleep apnea.Whats the diagnosis?


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Patients with this syndrome areshorter than the average person and

may not develop hair in many places,including in the facial, leg and pubic

areas. Patients also have eye

problems including clouded eyes orreduced eye size, bilateral cataracts[2] and glaucoma.

It can be associated with sleepapnea.[3]

It can complicate intubation.

Hallermann-Streiff syndrome
http://en.wikipedia.org/wiki/Syndromehttp://en.wikipedia.org/wiki/Facehttp://en.wikipedia.org/wiki/Human_leghttp://en.wikipedia.org/wiki/Genitalhttp://en.wikipedia.org/wiki/Human_eyehttp://en.wikipedia.org/wiki/Cataracthttp://en.wikipedia.org/wiki/Hallermann%E2%80%93Streiff_syndromehttp://en.wikipedia.org/wiki/Glaucomahttp://en.wikipedia.org/wiki/Hallermann%E2%80%93Streiff_syndromehttp://en.wikipedia.org/wiki/Intubationhttp://en.wikipedia.org/wiki/Intubationhttp://en.wikipedia.org/wiki/Hallermann%E2%80%93Streiff_syndromehttp://en.wikipedia.org/wiki/Glaucomahttp://en.wikipedia.org/wiki/Hallermann%E2%80%93Streiff_syndromehttp://en.wikipedia.org/wiki/Cataracthttp://en.wikipedia.org/wiki/Human_eyehttp://en.wikipedia.org/wiki/Genitalhttp://en.wikipedia.org/wiki/Human_leghttp://en.wikipedia.org/wiki/Facehttp://en.wikipedia.org/wiki/Syndrome


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Diagnosis ?


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Osteogenesis imperfecta


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Diagnosis?


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Menkes disease

Menkes Is an inborn error ofmetabolism transmitted via X-linkedrecessive trait.

Absorption insufficiency leads to poordistribution in different parts of thebody.

Enzymes majorly require coppertransporters for synthesis of bone,aid in nerve conduction, skin, bloodvessels etc.Symptomology includes:


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ANSWER: C Malro

The patient described in the vignette

presents with bilious emesis in the firstpostnatal week. Bilious emesis always is asurgical emergency in the newborn. The

differential diagnosis includes any form of

anatomic or functional gastrointestinalobstruction, such as an ileus, that may be

associated with sepsis. This infant is not

systemically ill, febrile, dehydrated, orhemodynamically unstable. Although her

abdomen is not distended, the absence ofbowel sounds on auscultation and the

paucity of bowel gas on abdominal


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The infants radiograph revealed absenceof a sacrum (A). A radiograph of a normal

sacrum is shown for comparison (B).

Caudal regression, or sacral agenesis,refers to a collection of congenital

abnormalities that may involve the lower

spine and spinal cord, lower extremities,urinary tract, and GI tract. Infants with

caudal regression syndrome have urinaryand fecal incontinence and decreased

lower limb movement. Patients mayrequire lifelong management of

associated elimination disorders and

surgical intervention for neurological


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Pediatric Atlas