ICNC Abstracts, ICNC 2018

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Atypical childhood-onset neuroaxonal dystrophy in an Indian girl - case report
Himani Bhasin, Sakshi Jain, Marta Romani, Enza Maria Valente, Suvasini Sharma

Last modified: 2018-09-09

Abstract


A seven-year old girl presented with progressive walking difficulties, spasticity and cognitive decline with onset at 3 years of age. There were no seizures, vision or hearing impairment. The MRI 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 the PLA2G6 gene confirming the diagnosis.                


Keywords


Atypical neuroaxonal dystrophy, pyramidal signs, cerebellar atrophy, PLA2G6, PLAN.

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