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Your search keyword '"Raju, K.N. Vykunta"' showing total 2 results
Start Over Author "Raju, K.N. Vykunta" Journal journal of child neurology
2 results on '"Raju, K.N. Vykunta"'

2. Vanishing White Matter Disease Associated With Ptosis and Myoclonic Seizures.

Author

Sharma, Suvasini, Arya, Ravindra, Raju, K.N. Vykunta, Kumar, Atin, Scheper, Gert C., van der Knaap, Marjo S., and Gulati, Sheffali

Subjects
METACHROMATIC leukodystrophy, ATAXIA telangiectasia in children, MYOCLONUS, MAGNETIC resonance imaging, BRAIN blood-vessels
Abstract

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. [ABSTRACT FROM AUTHOR]

Published
2011
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