
Case of childhood ataxia with central nervous system hypomyelination with a novel mutation in EIF2B3 gene
Author(s) -
Vykuntaraju K Gowda,
Varun M. Srinivasan,
Maya Bhat,
Asha Benakappa
Publication year - 2017
Publication title -
journal of pediatric neurosciences
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.247
H-Index - 18
eISSN - 1998-3948
pISSN - 1817-1745
DOI - 10.4103/jpn.jpn_183_16
Subject(s) - medicine , ataxia , exome sequencing , exon , hyperintensity , magnetic resonance imaging , mutation , white matter , gene mutation , genetics , gene , pathology , radiology , biology , psychiatry
A 4-year-old boy presented with loss of motor milestones following viral fever. On examination, the child had increased tone and exaggerated deep tendon reflexes. Magnetic resonance imaging of the brain showed white matter hyperintensities on T2-weighted images, which revealed partial inversion on fluid-attenuated inversion recovery images. Clinical exome sequencing revealed a novel homozygous mutation c.1270T>G: pCys424Gly in exon 11 of the EIF2B3 gene. This novel mutation is reported in this article along with a literature review.