Familial multiple symmetric lipomatosis with peripheral neuropathy
| Autor: | J. M. Jacobs, C. H. Chalk, Michael Donaghy, Kerry R. Mills |
|---|---|
| Rok vydání: | 1990 |
| Předmět: |
Adult
Male Pathology medicine.medical_specialty Lipomatosis Neural Conduction Nerve fiber Sural nerve Atrophy Sural Nerve Biopsy Humans Medicine Axon Ulnar Nerve Motor Neurons Nerve biopsy medicine.diagnostic_test business.industry Peripheral Nervous System Diseases Middle Aged medicine.disease Pedigree medicine.anatomical_structure Peripheral neuropathy Lipomatosis Multiple Symmetrical Female Neurology (clinical) Tibial Nerve business |
| Zdroj: | Neurology. 40:1246-1246 |
| ISSN: | 1526-632X 0028-3878 |
| Popis: | We describe coexisting peripheral neuropathy and multiple symmetric lipomatosis in 4 of 7 siblings. The absence of either condition in 3 other generations of this family suggests autosomal recessive inheritance. None of the affected siblings were alcoholic, a factor some have proposed to explain the frequent occurrence of peripheral neuropathy in sporadic multiple symmetric lipomatosis. Serum lipid studies, including apoprotein A levels, were normal. Sural nerve biopsy from 1 patient showed nerve fiber loss, predominantly affecting large myelinated fibers. The relationship between myelin sheath thickness and axon diameter was normal, arguing that this neuropathy is not due to primary axonal atrophy. |
| Databáze: | OpenAIRE |
| Externí odkaz: |
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