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 CASE REPORT
Year : 2019  |  Volume : 14  |  Issue : 2  |  Page : 90-93

Atypical childhood-onset neuroaxonal dystrophy in an Indian girl


1 Department of Pediatrics, Surya Women and Child Hospital, Jaipur, India
2 Department of Pediatrics, Shree Guru Gobind Singh Tricentenary Medical College and hospital, Delhi- NCR, India
3 Eurofins Genoma Group, Molecular Genetics Laboratory, Via di Castel Giubileo Rome, Italy
4 Department of Molecular Medicine, University of Pavia, Pavia, Italy, and Neurogenetics Unit IRCCS Santa Lucia Foundation, Rome, Italy
5 Division of Pediatric Neurology, Department of Pediatrics, Lady Harding Medical College, New Delhi, India

Correspondence Address:
Dr. Himani Bhasin
Department of Pediatrics, Lady Hardinge Medical College, New Delhi.
India
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Source of Support: None, Conflict of Interest: None


DOI: 10.4103/jpn.JPN_91_18

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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.






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