Megalencephalic leukoencephalopathy with subcortical cysts.
Megalencephalic leukoencephalopathy with subcortical cysts is a rare disease first described in 1995. It is characterized by macrocephaly and early onset white matter degeneration. We report two siblings who were diagnosed to have this disease. This disease must be included in differential diagnosis of macrocephaly with early onset leukoencephalopathy.
Hari Krishnan
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Department of Pediatrics, Institute of Child Health and Hospital for Children, Chennai, India.
Leema Pauline
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C
Kumaresan
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Vasantha Mallika
T K
TK
D001932:Brain Neoplasms / Q000175:diagnosis* / Q000235:genetics; D020863:Central Nervous System Cysts / Q000175:diagnosis* / Q000235:genetics; D002675:Child, Preschool; D020279:Hereditary Central Nervous System Demyelinating Diseases / Q000175:diagnosis* / Q000235:genetics; D006801:Humans; D008297:Male; D009154:Mutation; D011110:Polymorphism, Genetic