Vanishing white matter disease associated with ptosis and myoclonic seizures.
A 5-year-old boy who presented with progressive ataxia, neuroregression, and worsening with febrile illnesses is described. He also had myoclonic jerks and ptosis. His elder sister had died of a similar illness. Serial magnetic resonance imaging of the brain demonstrated extensive abnormality of the cerebral white matter with rarefaction and cystic degeneration, suggestive of vanishing white matter disease. The patient was found to be compound heterozygous for 2 new mutations in the gene EIF2B5, confirming the diagnosis.
All India Institute of Medical Sciences, New Delhi, India.
Suvasini
S
Sharma
Ravindra
R
Arya
K N Vykunta
KN
Raju
Atin
A
Kumar
Gert C
GC
Scheper
Marjo S
MS
van der Knaap
Sheffali
S
Gulati
D001763:Blepharoptosis / Q000150:complications*; D002675:Child, Preschool; D004831:Epilepsies, Myoclonic / Q000150:complications*; D006801:Humans; D056784:Leukoencephalopathies / Q000150:complications*; D008279:Magnetic Resonance Imaging / Q000379:methods; D008297:Male