Male infant 16 month old of consanguineous marriage presented with macrocephaly (Head
circumference > 97 % on growth charts) with delayed motor (stand with support) and mental
development (No words, delayed recognition of his mother…. ). No family history of large head. No
organomegaly or lymphadenopathy. Clinical examination and investigations excluded rickets as a cause
for his macrocephaly. MRI brain revealed mega-encephalic leukoencephalopathy with subcortical cysts
in which (diffuse hypo-density seen involving the white matter of both cerebral hemispheres including
the deep, subcortical and periventricular matter with no significant mass effect or medline shift).
What are your differential diagnoses?
How can reach the final diagnosis?