Familial lipodystrophy associated with neurodegeneration and congenital cataracts.
BACKGROUND
The lipodystrophies are characterized by loss of body fat and metabolic disturbances, but the CNS is seldom affected.


METHODS
An investigation of a family with partial lipodystrophy and neurologic abnormalities included lipid analysis, dual-energy x-ray absorbtiometry (DEXA) for adiposity, insulin resistance, karyotype and other genetic analyses, peroxisomal function, glycosylation pattern of transferrin and thyroglobulin, and muscle biopsy.


RESULTS
The propositus, a 28-year-old woman with congenital partial lipodystrophy and cataracts, presented with a spastic-ataxic gait and lower extremity paresthesiae at age 18. Laboratory investigation revealed a type V hyperlipidemia pattern, insulin resistance, and high alpha-tocopherol levels. A similar syndrome in other family members suggested an autosomal dominant pattern of inheritance.


CONCLUSIONS
The progressive neurologic degenerative condition associated with this autosomal dominant, partial lipodystrophy may be misdiagnosed as MS or spinocerebellar degeneration. Search for a few relevant candidate genes was unrevealing. A genome-wide search to determine the molecular etiology can be undertaken if other similar cases are identified.
Berger
Joseph R
JR
Department of Neurology, University of Kentucky College of Medicine, Lexington, USA. jrbneuro@pop.uky.edu
Oral
Elif Arioglu
EA
Taylor
Simeon I
SI
D000328:Adult; D002386:Cataract / Q000150:complications* / Q000151:congenital*; D002526:Cerebellar Diseases / Q000150:complications*; D005260:Female; D006801:Humans; D008060:Lipodystrophy / Q000150:complications* / Q000235:genetics*; D008279:Magnetic Resonance Imaging; D008297:Male; D010375:Pedigree; D013118:Spinal Cord Diseases / Q000150:complications* / Q000473:pathology