Atypical Childhood-onset Neuroaxonal Dystrophy in an Indian Girl

Sakshi Jain, Himani Bhasin, Marta Romani, Enza Maria Valente, Suvasini Sharma, Sakshi Jain, Himani Bhasin, Marta Romani, Enza Maria Valente, Suvasini Sharma

Abstract

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 the PLA2G6 gene confirming the diagnosis.

Keywords: Atypical neuroaxonal dystrophy; PLA2G6; PLA2G6-associated neurodegeneration; cerebellar atrophy; pyramidal signs.

Conflict of interest statement

There are no conflicts of interest.

Figures

Figure 1
Figure 1
T2-weighted axial images at the level of the basal ganglia (A) and midbrain (B) showing hypointense globi pallidi (A) and substantia nigra (B), respectively. (C) T2-weighted axial midline sagittal image showing cerebellar atrophy
Figure 2
Figure 2
Axial gradient images at the level of the basal ganglia (A) and midbrain (B) showing blooming in globi pallidi (A) and substantia nigra (B) suggesting iron deposition in these regions

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