| QUIZ: Child with seizure |
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| Thursday, 29 September 2011 10:52 |
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Case description: The child presented with gross developmental delay and one episode of seizure, there is polysyndactyly and broadening of the wrist joint, teeth are crowded. The hemogram reveals hb of 7, RBC count is 3.32,TLC is 3.0. USG reveals chronic renal parenchymal disease. CXR shows white near the rib. Serum phosphate level is normal. |
Comments
Are there any other findings on PE, in particular any sebaceous nevi? Any ocular abnormalities? Any family history of heritable diseases? Or other affected brothers or sisters?
What did the CT show?
The white near the rib that you mention I suppose is a calcification, if not could you please clarify?
I am mostly oriented towards a syndrome where neurological, skeletal and renal abnormalities are combined. It could be a phacomatosis (neurocutaneous condition).
The Schimmelpenning syndrome crosses my mind.
As far as the anemia is concerned I think it is secondary to the chronic renal disease.
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