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Year : 2022  |  Volume : 1  |  Issue : 3  |  Page : 70-72

A case of giant axonal neuropathy

1 Department of Pediatrics, Government TD Medical College, Alappuzha, Kerala, India
2 Department of Pediatrics, Government Medical College, Kollam, Kerala, India

Correspondence Address:
Dr. Jo Martin Kuncheria
Department of Pediatrics, Government TD Medical College, Alappuzha 688005, Kerala
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Source of Support: None, Conflict of Interest: None

DOI: 10.4103/pedc.pedc_13_23

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Giant axonal neuropathy is a rare autosomal recessive disorder that results in progressive mixed peripheral neuropathy and degeneration of central white matter. Child has short frizzy hair, distichiasis, pes planus, scoliosis, symptoms suggestive of cerebellar involvement, hypotonia, and hyporeflexia. Nerve conduction study showed features of axonal neuropathy. Magnetic resonance imaging brain showed hyperintensities in periventricular and bilateral deep cerebral white matter extending to involve the posterior limb of internal capsule, brain stem and cerebellar white matter. Clinical exome sequencing was positive for giant axonal neuropathy. Conservative management was done including physiotherapy under PMR guidance, family counseling, and follow-up care.

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