RESUMO
Abnormalities of the anterior part of the temporal lobe (abnormal and swollen white matter, cysts, and focal enlargement of the anterior part of the inferior horn- either alone or more often in combination) suggest congenital cytomegalovirus (CMV) infection. This is not widely known.These can be seen in neonatal period and they continue to persist in later life.
RESUMO
We describe two adolescent Indian siblings with cerebrotendinous xanthomatosis with cognitive impairment, progressive neurological deterioration, juvenile cataracts and chronic diarrhea. Both patients had bilateral Achilles tendon xanthomata. Rapid progression of disease was an unusual finding in these cases. Magnetic resonance imaging showed characteristic signal alterations in cerebellar hemispheres, brainstem and posterior cerebral white matter.