WEEKLY CASE #3

 

A 7-month-old boy is brought to the pediatric clinic by his parents for evaluation of progressive irritability, decreased spontaneous movements, and painful swelling of multiple joints over the past 3 months. The parents report that the child cries excessively when picked up or during diaper changes, and they have noticed that he has become increasingly stiff and reluctant to move his limbs. His feeding has also decreased, and he has not been gaining weight appropriately.

They further mention that over the last month, they observed small, firm, painless nodules over his elbows, knees, and fingers, which have gradually increased in number. Additionally, his cry has changed it has become weak, hoarse, and rough-sounding, which they initially attributed to a recent upper respiratory infection, though it has persisted.

Birth history is unremarkable. There is no history of consanguinity. Immunizations are up to date.

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 Examination

• Irritable infant with poor weight gain
• Multiple tender, swollen joints with restricted range of motion
• Subcutaneous nodules over pressure points (elbows, fingers)
• Hoarse cry noted during examination
• Mild hypotonia
• No hepatosplenomegaly

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 Laboratory findings

Test	Result
ESR	Mildly elevated
CRP	Mildly elevated
Creatine kinase (CK)	Normal
CBC	Normal (no significant cytopenias)

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 Imaging 

• X-ray: soft tissue swelling, no bony erosion
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What will find in the biospy of the swellings? What is the enzyme defect involved in this?

WEEKLY CASE #2

WEEKLY CASE #1

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