GIANT AXONAL NEUROPATHY - A GENERALIZED DISORDER OF INTERMEDIATE FILAMENTS WITH LONGITUDINAL GROOVES IN THE HAIR

Giant axonal neuropathy (GAN) is a generalized neurological disorder w ith accumulation of intermediate filaments in different cell populatio ns. The hallmark are enormous axonal swellings containing densely pack ed neurofilaments. Clinical symptoms reported so far are mainly limite d to the nervous system. We report on a four-year-old girl with clinic al and sural nerve biopsy findings typical of GAN. In addition, scanni ng 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 theref ore may serve as a method of screening in patients suspected of suffer ing from GAN.