Case of childhood ataxia with central nervous system hypomyelination with a novel mutation in EIF2B3 gene
| Autor: | Asha Benakappa, Vykuntaraju K Gowda, Varun M. Srinivasan, Maya Bhat |
|---|---|
| Rok vydání: | 2017 |
| Předmět: |
0301 basic medicine
leukodystrophy Pathology medicine.medical_specialty Ataxia Central nervous system Case Report 030105 genetics & heredity 03 medical and health sciences Exon 0302 clinical medicine Magnetic resonance imaging of the brain medicine Exome sequencing EIF2B3 gene mutation vanishing white matter disease medicine.diagnostic_test business.industry Childhood ataxia with central nervous system hypomyelination General Neuroscience Indian Leukodystrophy medicine.disease Hyperintensity medicine.anatomical_structure Pediatrics Perinatology and Child Health Mutation (genetic algorithm) medicine.symptom business 030217 neurology & neurosurgery |
| Zdroj: | Journal of Pediatric Neurosciences |
| ISSN: | 1817-1745 |
| DOI: | 10.4103/jpn.jpn_183_16 |
| Popis: | 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. |
| Databáze: | OpenAIRE |
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