Neuropediatrics 1981; 12(4): 392-404
DOI: 10.1055/s-2008-1059670
© Georg Thieme Verlag KG Stuttgart · New York

GIANT AXONAL NEUROPATHY: REPORT OF TWO SIBLINGS WITH ENDOCRINOLOGICAL AND HISTOLOGICAL STUDIES

Y.  Takebe1 , N.  Koide1 , G.  Takahashi2
  • 1Dept. of Pediatrics, Hirosaki University School of Medicine, 5, Zaifu-cho, Hirosaki-shi, 036, Japan
  • 2Dept. of Anatomy, Hirosaki University School of Medicine, 5, Zaifu-cho, Hirosaki-shi, 036, Japan
Further Information

Publication History

Publication Date:
19 March 2008 (online)

Abstract

Giant axonal neuropathy in two siblings was reported. The fact that two cases are found in the same family supports this disorder is genetically determined and recessively inherited. These two cases, similar to the cases reported in literature, had chronic peripheral neuropathy and CNS symptoms, and also petit mal absence and mental retardation in elder sister (case 1) and precocious puberty in younger sister (case 2). Sural nerve biopsies in both cases disclosed axonal swellings or giant axons filled with aggregated neurofilaments, and that aggregated intermediate-sized filaments were found within cytoplasm of Schwann cells, endothelial cells of intra and extra-neurial capillaries and of extra-neurial arterioles, perineurial cells and endoneurial fibroblasts. Skin biopsies in both cases disclosed that aggregated intermediate-sized filaments were also found within cytoplasm of fibroblasts, Langerhans' cells, melanocytes and endothelial cells of capillaries, lymphatic vessels and arterioles. The diagnosis of giant axonal neuropathy can be made only by the findings in skin biopsy.

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