Atypical Childhood-onset Neuroaxonal Dystrophy in an Indian Girl.
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ABSTRACT:
SUBMITTER: Jain S
PROVIDER: S-EPMC6712922 | biostudies-literature | 2019 Apr-Jun
REPOSITORIES: biostudies-literature
Publications
Atypical Childhood-onset Neuroaxonal Dystrophy in an Indian Girl.
Jain Sakshi S Bhasin Himani H Romani Marta M Valente Enza Maria EM Sharma Suvasini S
Journal of pediatric neurosciences 20190401 2
A 7-year-old girl presented with progressive walking difficulties, spasticity, and cognitive decline with onset at 3 years of age. No seizures, vision, or hearing impairment were reported. The magnetic resonance imaging of the brain revealed cerebellar atrophy and evidence of iron deposition in the globi pallidi and substantia nigra. The clinico-radiological profile was suggestive of atypical childhood-onset neuroaxonal dystrophy. The patient was found to have compound heterozygous mutations in ...[more]
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