Complex glycerol kinase deficiency: A case report.

Abstract

Glycerol kinase deficiency is a rare X-linked genetic disorder, which may be associated with adrenal hypoplasia congenita and Duchenne muscular dystrophy. Here we describe a complex pediatric case of adrenal insufficiency with persistent hyponatremia and hyperkalemia despite an adequate management with corticosteroids, hypertriglyceridemia since birth, and chronic malnutrition in nutritional recovery. No cases have been reported in the Argentine literature, which increases the relevance of this case in pediatric clinical practice due to its unusual presentation.