| A rare primary lipodystrophy characterized by partial to generalized loss of fat, associated with metabolic complications and variable neurological manifestations. Most patients present with lipoatrophy of the limbs and trunk, associated with muscular hypertrophy. Metabolic complications include insulin-resistant diabetes mellitus, hypertriglyceridemia, and hepatic steatosis. Major neurological involvement is characterized by demyelinating polyneuropathy. Intellectual disability has also been reported in some patients. Females may present with hirsutism, hyperandrogenism, and polycystic ovary syndrome, while males present with gynecomastia. |
