title: Giant axonal neuropathy: a generalized disorder of intermediate filaments with longitudinal grooves in the hair.
abstract: Giant axonal neuropathy (GAN) is a generalized neurological disorder with accumulation of intermediate filaments in different cell populations. The hallmark are enormous axonal swellings containing densely packed neurofilaments. Clinical symptoms reported so far are mainly limited to the nervous system. We report on a four-year-old girl with clinical and sural nerve biopsy findings typical of GAN. In addition, scanning electron microscopy (SEM) showed longitudinal grooves in the hairs of our patient. This peculiarity so far has only been described in two other patients with GAN. Scanning electron microscopy of hairs therefore may serve as a method of screening in patients suspected of suffering from GAN.
authors.affiliation: Zentrum Kinderheilkunde, Schwerpunkt Neuropädiatrie, George-August-Universität, Göttingen, Germany.
authors.forename: S
authors.initials: S
authors.lastname: Treiber-Held
authors.forename: H
authors.initials: H
authors.lastname: Budjarjo-Welim
authors.forename: D
authors.initials: D
authors.lastname: Reimann
authors.forename: J
authors.initials: J
authors.lastname: Richter
authors.forename: H A
authors.initials: HA
authors.lastname: Kretzschmar
authors.forename: F
authors.initials: F
authors.lastname: Hanefeld
mesh_terms: D001369:Axons / Q000473:pathology*; D001706:Biopsy; D002675:Child, Preschool; D005260:Female; D006197:Hair / Q000473:pathology*; D006201:Hair Diseases / Q000150:complications* / Q000473:pathology; D006801:Humans; D007382:Intermediate Filaments / Q000473:pathology*; D008854:Microscopy, Electron; D008855:Microscopy, Electron, Scanning; D010523:Peripheral Nervous System Diseases / Q000150:complications / Q000473:pathology*; D013497:Sural Nerve / Q000473:pathology / Q000648:ultrastructure