Trouble doubled: a rare case of Schaaf Yang syndrome with severe acute malnutrition

Abstract

Schaaf-Yang syndrome is a genetic disorder caused by mutations in the paternal allele of the Melanoma antigen L2 (MAGEL2) gene. Developmental delay, feeding difficulties with joint contractures and a high prevalence of development disorders including autism are characteristic of this syndrome. We describe a unique case of an infant with Schaaf-Yang syndrome who presented with failure to thrive. The case emphasizes the need for genome sequencing for early diagnosis and management of this rare genetic disease. It also highlights the need to think beyond nutrition when it comes to severe acute malnutrition.