Unresolving Short Stature in a Possible Case of Mucopolysccharidosis

Abstract

We present a metabolic disorder with main complaints of unresolving short stature following prolonged treatment for rickets. ES is a 4‑year‑old male who first presented to our hospital on self‑referral but had been seen previously at another tertiary health facility. The complaints were a swelling on the back and poor growth since 1 year of age with associated skeletal deformities: Chest wall, wrists, knees and ankle joints, which were progressive. Examination revealed a severely stunted child with a large head and caput quadratum, craniofacial disproportion, coarse facial features, saddle‑shaped nose, thick lips and bilateral corneal clouding/opacities. He had very poor language development for his age. His diagnoses based on clinical and radiological assessment was in keeping with Hurlers type of mucopolysaccharidoses. We highlight this case to emphasize the need for early consideration of other possible rare differential diagnoses in metabolic conditions in children.

Keywords: Child, Metabolic, Mucopolysaccharidoses, Short stature