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J Child Neurol. 2015 Jun;30(7):912-5. doi: 10.1177/0883073814547721. Epub 2014 Sep 11.

Giant axonal neuropathy.

Author information

1
Department of Neurology, National Institute of Mental Health and Neurosciences, Bangalore, Karnataka, India.
2
Department of Neurology, National Institute of Mental Health and Neurosciences, Bangalore, Karnataka, India drpsbindu@yahoo.co.in.
3
Department of Neuropathology, National Institute of Mental Health and Neurosciences, Bangalore, Karnataka, India.
4
Department of Neuroimaging and Interventional Radiology, National Institute of Mental Health and Neurosciences, Bangalore, Karnataka, India.

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.

KEYWORDS:

Frizzy hair; Giant axonal neuropathy; Leukoencephalopathy

PMID:
25213662
DOI:
10.1177/0883073814547721
[Indexed for MEDLINE]

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