Imaging hallmarks of mucopolysaccharidosis in a young Ethiopian boy: A case report

Abstract

Mucopolysaccharidoses (MPS) are lysosomal storage disorders resulting from deficiencies in specific enzymes (lysosomal hydrolases), leading to the accumulation of excessive mucopolysaccharides (glycosaminoglycan's, GAGs). These conditions are typically inherited in an autosomal recessive pattern, except MPS type II, which is X-linked. In this case report, we present a 5-year-old male child with global developmental delay, severe speech and motor impairments. He was born at home after an uneventful prenatal and postnatal period, with healthy older siblings. Physical examination revealed obesity, coarse facial features, macrocephaly, a flat nasal bridge, and kyphosis. X-rays of the bilateral wrists and hands, as well as lateral lumbosacral spine images, demonstrated proximal metacarpal pointing, gibbus deformity with anterior inferior vertebral body beaking, and posterior vertebral scalloping. MRI revealed a J-shaped sella turcica, hydrocephalus, and diffuse white matter changes. These radiological findings strongly support a diagnosis of MPS. This case highlights the role of radiology in diagnosing such disorders.