Giant axonal neuropathy: a clinicoradiopathologic diagnosis.

Abstract

A 10-year-old girl, without consanguinity or neurologic disease in the family, presented with an 8- to 9-year history of progressive gait disturbance, incoordination, impaired hearing, and cognition; antenatal and neonatal histories were unremarkable. Salient examination findings were tightly curled scalp hair (figure 1A), impaired cognition and hearing, flaccid quadriparesis, and pancerebellar dysfunction. Salient investigative findings were leukodystrophy on MRI brain (figure 1B), sensorimotor polyneuropathy, and giant axons with aberrant neurofilament immunostaining on sural nerve biopsy (figure 2, A and B). Giant axonal neuropathy is a rare (worldwide 50 families reported) autosomal recessive disorder, characterized by gigaxonin gene mutations and disorganization of intermediate filaments.^1,2