A rare, autosomal recessive lipid-storage disorder caused by a defect in the CYP27A1
gene that results in abnormalities of lipid metabolism. Characterized by progressive neurologic dysfunction, premature atherosclerosis, and development of cataracts
. Common signs and symptoms include chronic diarrhea, cholestasis, and liver abnormalities in the neonate, and childhood-onset bilateral cataracts. There have been reported deaths in early infancy. A life-threatening condition may be triggered by early symptoms, and watchfulness is imperative to prevent fatal complications. Later-onset findings include xanthomas of the connective tissue in adolescents and young adults. Brittle bones, atherosclerosis, and jaundice are not uncommon. Adult-onset (20s and 30s) neurological findings include cerebellar ataxia, movement difficulties, dysarthria, dementia, spasticity, and seizures. Hallucinations, personality changes, agitation, depression, and other psychiatric findings may occur.
Management focuses on limiting progressive damage, managing symptoms, treating deficiencies with medication, and replacement therapies. Cataract surgery may be necessary in middle-aged patients. If treated, prognosis is generally good for normal lifespan.