title: Familial multiple symmetric lipomatosis with peripheral neuropathy.
abstract: 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.
authors.affiliation: Department of Clinical Neurology, Radcliffe Infirmary, Oxford, UK.
authors.forename: C H
authors.initials: CH
authors.lastname: Chalk
authors.forename: K R
authors.initials: KR
authors.lastname: Mills
authors.forename: J M
authors.initials: JM
authors.lastname: Jacobs
authors.forename: M
authors.initials: M
authors.lastname: Donaghy
mesh_terms: D000328:Adult; D005260:Female; D006801:Humans; D008068:Lipomatosis / Q000235:genetics*; D008069:Lipomatosis, Multiple Symmetrical / Q000150:complications / Q000235:genetics* / Q000503:physiopathology; D008297:Male; D008875:Middle Aged; D009046:Motor Neurons / Q000502:physiology; D009431:Neural Conduction; D010375:Pedigree; D010523:Peripheral Nervous System Diseases / Q000150:complications / Q000235:genetics* / Q000503:physiopathology; D013497:Sural Nerve / Q000503:physiopathology / Q000648:ultrastructure; D013979:Tibial Nerve / Q000503:physiopathology; D014459:Ulnar Nerve / Q000503:physiopathology