Abstract
A 1-year-old girl, whose parents were second cousins, presented with developmental delay and regression of milestones. She had macrocephaly, generalized hypotonia, brisk reflexes, and hepatosplenomegaly. Ophthalmoscopic examination revealed bilateral macular cherry-red spots. MRI of the brain (figure) demonstrated …
Talk to us
Join us for a 30 min session where you can share your feedback and ask us any queries you have