title: Giant axonal neuropathy.
abstract: Giant axonal neuropathy is an autosomal recessive disorder of childhood with distinct morphological features. An 8-year-old boy presented with progressive walking difficulty and recurrent falls. Evaluation showed frizzy hair, characteristic facies, sensory motor neuropathy, and ataxia. Magnetic resonance imaging (MRI) showed bilateral symmetric white matter signal changes in the cerebellum and periventricular regions along with involvement of the posterior limb of the internal capsule. Sural nerve biopsy demonstrated giant axons with neurofilament accumulation. The clinicopathologic manifestations of giant axonal neuropathy are discussed along with the clinical and histologic differential diagnoses.
authors.affiliation: Department of Neurology, National Institute of Mental Health and Neurosciences, Bangalore, Karnataka, India.
authors.forename: Kadambari
authors.initials: K
authors.lastname: Vijaykumar
authors.affiliation: Department of Neurology, National Institute of Mental Health and Neurosciences, Bangalore, Karnataka, India drpsbindu@yahoo.co.in.
authors.forename: Parayil Sankaran
authors.initials: PS
authors.lastname: Bindu
authors.affiliation: Department of Neurology, National Institute of Mental Health and Neurosciences, Bangalore, Karnataka, India.
authors.forename: Arun B
authors.initials: AB
authors.lastname: Taly
authors.affiliation: Department of Neuropathology, National Institute of Mental Health and Neurosciences, Bangalore, Karnataka, India.
authors.forename: Anita
authors.initials: A
authors.lastname: Mahadevan
authors.affiliation: Department of Neuroimaging and Interventional Radiology, National Institute of Mental Health and Neurosciences, Bangalore, Karnataka, India.
authors.forename: Rose Dawn
authors.initials: RD
authors.lastname: Bharath
authors.affiliation: Department of Neuropathology, National Institute of Mental Health and Neurosciences, Bangalore, Karnataka, India.
authors.forename: Narayanappa
authors.initials: N
authors.lastname: Gayathri
authors.affiliation: Department of Neurology, National Institute of Mental Health and Neurosciences, Bangalore, Karnataka, India.
authors.forename: Madhu
authors.initials: M
authors.lastname: Nagappa
authors.affiliation: Department of Neurology, National Institute of Mental Health and Neurosciences, Bangalore, Karnataka, India.
authors.forename: Sanjib
authors.initials: S
authors.lastname: Sinha
mesh_terms: D001921:Brain / Q000473:pathology; D002648:Child; D003937:Diagnosis, Differential; D056768:Giant Axonal Neuropathy / Q000175:diagnosis / Q000473:pathology* / Q000503:physiopathology; D006197:Hair / Q000473:pathology; D006801:Humans; D008279:Magnetic Resonance Imaging; D008297:Male; D008854:Microscopy, Electron; D013497:Sural Nerve / Q000648:ultrastructure
keywords: Frizzy hair; Giant axonal neuropathy; Leukoencephalopathy