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Congenital giant axonal neuropathy.
Arch Pathol Lab Med. 1985 Jul; 109(7):639-41.AP

Abstract

Giant axonal neuropathy (GAN) is a distal sensorimotor neuropathy, characterized by neurofilamentous axonal swellings, with usual onset at 2 to 3 years of age. We report a case of congenital GAN with hypotonia at birth. At 7 months of age, nerve conduction studies showed almost complete lack of sensory and motor responses in the lower extremities. A sural nerve biopsy specimen disclosed absence of myelinated axons. Autopsy, following death at 15 months of age, revealed axonal swellings in peripheral nerves and distal degeneration of long spinal cord tracts. The neurofilamentous content of the axonal swellings was confirmed by Glees-Marsland staining and immunoperoxidase reaction with antibodies to neurofilaments. Axonal swellings did not stain with periodic acid-Schiff and were not seen in the cerebral cortex or brain stem, distinguishing this process from infantile neuroaxonal dystrophy. This patient illustrates congenital GAN with subsequent rapid progression.

Authors

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Pub Type(s)

Case Reports
Journal Article

Language

eng

PubMed ID

2990373

Citation

Kinney, R B., et al. "Congenital Giant Axonal Neuropathy." Archives of Pathology & Laboratory Medicine, vol. 109, no. 7, 1985, pp. 639-41.
Kinney RB, Gottfried MR, Hodson AK, et al. Congenital giant axonal neuropathy. Arch Pathol Lab Med. 1985;109(7):639-41.
Kinney, R. B., Gottfried, M. R., Hodson, A. K., Autilio-Gambetti, L., & Graham, D. G. (1985). Congenital giant axonal neuropathy. Archives of Pathology & Laboratory Medicine, 109(7), 639-41.
Kinney RB, et al. Congenital Giant Axonal Neuropathy. Arch Pathol Lab Med. 1985;109(7):639-41. PubMed PMID: 2990373.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Congenital giant axonal neuropathy. AU - Kinney,R B, AU - Gottfried,M R, AU - Hodson,A K, AU - Autilio-Gambetti,L, AU - Graham,D G, PY - 1985/7/1/pubmed PY - 1985/7/1/medline PY - 1985/7/1/entrez SP - 639 EP - 41 JF - Archives of pathology & laboratory medicine JO - Arch. Pathol. Lab. Med. VL - 109 IS - 7 N2 - Giant axonal neuropathy (GAN) is a distal sensorimotor neuropathy, characterized by neurofilamentous axonal swellings, with usual onset at 2 to 3 years of age. We report a case of congenital GAN with hypotonia at birth. At 7 months of age, nerve conduction studies showed almost complete lack of sensory and motor responses in the lower extremities. A sural nerve biopsy specimen disclosed absence of myelinated axons. Autopsy, following death at 15 months of age, revealed axonal swellings in peripheral nerves and distal degeneration of long spinal cord tracts. The neurofilamentous content of the axonal swellings was confirmed by Glees-Marsland staining and immunoperoxidase reaction with antibodies to neurofilaments. Axonal swellings did not stain with periodic acid-Schiff and were not seen in the cerebral cortex or brain stem, distinguishing this process from infantile neuroaxonal dystrophy. This patient illustrates congenital GAN with subsequent rapid progression. SN - 0003-9985 UR - https://www.unboundmedicine.com/medline/citation/2990373/Congenital_giant_axonal_neuropathy_ L2 - http://www.diseaseinfosearch.org/result/3042 DB - PRIME DP - Unbound Medicine ER -