Diagnostic Dilemma


A 9 months old boy born of third degree consanguineous marriage presented with loss of milestones after 4 months of age. At 4 months of age, the child had social smile with partial head holding. He had fever that lasted for one month following which he lost the milestones and had not achieved any new milestones. MRI brain was done at 6 months of age which showed hypomyelination. There were no convulsions, altered sensorium ever. He was a full term normal delivery with birth weight of 2.5 kg with no antenatal or postnatal complications. He was immunized till age. On examination, he had no dysmorphic features, had spasticity, cortical thumb and brisk reflexes. Other systems were normal. Investigations showed:
• Hearing = Normal
• Funduscopy = Bilateral optic atrophy
• Hemoglobin = 12 gm/dl, WBC = 12,000/cumm (56% polymorphs, 44% lymphocytes), Platelets = Adequate.
• Serum CPK, liver transaminases, electrolytes, blood gases = Normal
• Random blood sugar = 153 mg%
• Serum ammonia = Normal

What is the diagnosis ?
Expert Opinion :
In this child MRI showed hypomyelination. Keeping in mind, optic atrophy with white matter disease such as leukodystrophy, a repeat MRI has been advised after 6 months.
Answer Discussion :
acute fever 39 C with abduminal pain
6 years ago
Zahid Ullah Zahid Ullah
1month baby very weak
6 years ago

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