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Acromutilating, Paralyzing Neuropathy With Corneal Ulceration in Navajo Children

Acromutilating, Paralyzing Neuropathy With Corneal Ulceration in Navajo Children Abstract • Four Navajo children had a mutilating neuropathy with severe motor involvement. The disorder appears to be recessively inherited and is present from the earliest observable age. Manifestations include severe anesthesia, corneal ulceration, painless fractures, acral mutilation, and weakness. Mental function is normal. Sural nerves are practically devoid of myelinated fibers that show no evidence of regeneration. Unmyelinated axons show degenerative and regenerative morphologic and histometric features. Onion bulb formation is absent. We believe this neuropathy is a distinct clinical entity. References 1. Appenzeller O, Kornfeld M: Acute pandysautonomia: Clinical and morphologic study . Arch Neurol 29:334-339, 1973.Crossref 2. Aguayo AJ, Nair CPV, Bray GM: Peripheral nerve abnormalities in the Riley-Day syndrome: Findings in a sural nerve biopsy . Arch Neurol 24:106-116, 1971.Crossref 3. MacGee J: Characterization of mammalian tissues and microorganisms by gas-liquid chromatography . J Gas Chromatography 6:48-52, 1968.Crossref 4. Murray TJ: Congenital sensory neuropathy . Brain 96:387-394, 1973.Crossref 5. Dyck PJ: Histologic measurements and fine structure of biopsied sural nerve: Normal and in peroneal muscular atrophy, hypertrophic neuropathy and congenital sensory neuropathy . Mayo Clin Proc 41:742-774, 1966. 6. Dyck PJ, Ohta M: Neuronal atrophy and degeneration predominantly affecting peripheral sensory neurons , in Dyck PJ, Thomas PK, Lambert EH (eds): Peripheral Neuropathy . Philadelphia, WB Saunders Co, 1975, vol 2, pp 791-824. 7. Whitaker JN, Falchuck ZM, Engel WK, et al: Hereditary sensory neuropathy: Association with increased synthesis of immunoglobulin A . Arch Neurol 30:359-371, 1974.Crossref 8. Appenzeller O, Kornfeld M: Indifference to pain: A chronic peripheral neuropathy with mosaic Schwann cells . Arch Neurol 27:322-339, 1972.Crossref 9. Thrush DC: Congenital insensitivity to pain: A clinical, genetic and neurophysiologic study of four children from the same family . Brain 96:369-386, 1973.Crossref 10. Ochoa J, Mair WGP: The normal sural nerve in man: I. Ultrastructure and numbers of fibers and cells . Acta Neuropathol 13:197-216, 1969.Crossref http://www.deepdyve.com/assets/images/DeepDyve-Logo-lg.png Archives of Neurology American Medical Association

Acromutilating, Paralyzing Neuropathy With Corneal Ulceration in Navajo Children

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Publisher
American Medical Association
Copyright
Copyright © 1976 American Medical Association. All Rights Reserved.
ISSN
0003-9942
eISSN
1538-3687
DOI
10.1001/archneur.1976.00500110001001
Publisher site
See Article on Publisher Site

Abstract

Abstract • Four Navajo children had a mutilating neuropathy with severe motor involvement. The disorder appears to be recessively inherited and is present from the earliest observable age. Manifestations include severe anesthesia, corneal ulceration, painless fractures, acral mutilation, and weakness. Mental function is normal. Sural nerves are practically devoid of myelinated fibers that show no evidence of regeneration. Unmyelinated axons show degenerative and regenerative morphologic and histometric features. Onion bulb formation is absent. We believe this neuropathy is a distinct clinical entity. References 1. Appenzeller O, Kornfeld M: Acute pandysautonomia: Clinical and morphologic study . Arch Neurol 29:334-339, 1973.Crossref 2. Aguayo AJ, Nair CPV, Bray GM: Peripheral nerve abnormalities in the Riley-Day syndrome: Findings in a sural nerve biopsy . Arch Neurol 24:106-116, 1971.Crossref 3. MacGee J: Characterization of mammalian tissues and microorganisms by gas-liquid chromatography . J Gas Chromatography 6:48-52, 1968.Crossref 4. Murray TJ: Congenital sensory neuropathy . Brain 96:387-394, 1973.Crossref 5. Dyck PJ: Histologic measurements and fine structure of biopsied sural nerve: Normal and in peroneal muscular atrophy, hypertrophic neuropathy and congenital sensory neuropathy . Mayo Clin Proc 41:742-774, 1966. 6. Dyck PJ, Ohta M: Neuronal atrophy and degeneration predominantly affecting peripheral sensory neurons , in Dyck PJ, Thomas PK, Lambert EH (eds): Peripheral Neuropathy . Philadelphia, WB Saunders Co, 1975, vol 2, pp 791-824. 7. Whitaker JN, Falchuck ZM, Engel WK, et al: Hereditary sensory neuropathy: Association with increased synthesis of immunoglobulin A . Arch Neurol 30:359-371, 1974.Crossref 8. Appenzeller O, Kornfeld M: Indifference to pain: A chronic peripheral neuropathy with mosaic Schwann cells . Arch Neurol 27:322-339, 1972.Crossref 9. Thrush DC: Congenital insensitivity to pain: A clinical, genetic and neurophysiologic study of four children from the same family . Brain 96:369-386, 1973.Crossref 10. Ochoa J, Mair WGP: The normal sural nerve in man: I. Ultrastructure and numbers of fibers and cells . Acta Neuropathol 13:197-216, 1969.Crossref

Journal

Archives of NeurologyAmerican Medical Association

Published: Nov 1, 1976

References