Diagnostic Dilemma

What could be happening in this child. Is it an IEM

This is a 10 months old female child born to consanguinous parents. Admitted with focal convulsions involving left lower limb. Past history of seizures on day 3 of life, and at 7 months of age, then EEG, CT brain and MRI brain done, were normal. There is mild delay in developmental milestones. On examination there is microcephaly, developmental delay, anemia with Hb 6.4 gm/dl, hepatomegaly, overlapping of 2nd and 3rd toes of both feet and more strikingly there is diffuse hardening of skin and surrounding tissue, skin not pinchable (skin texture like we see in scerema in neonates). Fundus examination normal, Liver functions normal, 2d echo normal, TSH 12.09 mIU/ml. In a 10 days of course in the hospital, child has gradual deterioration in terms of activity, sensorium, oral intake and respiratory pattern.

What is the likely diagnosis?
Answer Discussion :
Mohamed Ezzat Abdelnaiem
urea cucle
7 years ago
Sherri Langhorne
harlequin disease
7 years ago

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