Contributor: Gordon K. Klintworth
Lipodystrophy with congenital cataracts and neurodegeneration (OMIM # 606721) is one variety of partial congenital familial lipodystrophy [lipodystrophy - partial] that was first documented by Berger et al. in 2002. Adipose tissue is absent from the face and upper body from birth and the disorder is associated with congenital cataracts [cataract - congenital], a pigmentary retinopathy, signs of neurologic dysfunction involving the cerebellum (ataxia) and spinal cord (lower extremity weakness with spasticity, spontaneous clonus and brisk reflexes, and bilateral Babinski reflexes), hyperlipidemia type V, insulin resistance, orthostatic hypotension, a lack of breast development, mild acanthosis nigrans, and high alpha-tocopherol levels. The responsible gene remains to be identified.