Multisystem triglyceride storage disorder with impaired long‐chain fatty acid oxidation

Abstract

A five‐year‐old girl presented with congenital ichthyosis, hepatosplenomegaly, vacuolized granulocytes (Jordans' anomaly), and myopathy. Pathological, ultrastructural, and biochemical studies revealed nonlysosomal, multisystemic triglyceride storage. The cultured fibroblasts had increased uptake but decreased oxidation of labeled oleate. The patient failed to produce ketone bodies on fasting. A medium‐chain triglyceride diet reversed the hepatomegaly. These studies are all consistent with a partial defect in the catabolism of long‐chain fatty acids. This newly identified syndrome is presumably transmitted as an autosomal recessive trait.