A CASE OF MUCOPOLYSACCHARIDOSIS PRESENTING AS SHORT STATURE

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Authors: 1*Dr. Vinayak Moorthy, 2Dr. Rathnakumar MD, 3Dr. Marchwin Kingston MD, 4Dr. Arjunan MD
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Abstract

The diagnostic process of short stature requires a disciplined, stepwise approach that moves beyond simple height velocity. It involves the scrutiny of body proportions, skeletal maturation, and subtle dysmorphic features. In many cases it is merely the most visible marker of a systemic disorder affecting connective tissue, neurological function, and visceral organ integrity.[1] This report focuses on the diagnostic journey of a 14-year-old male presenting with short stature and a constellation of multisystemic symptoms. By integrating clinical history, examination findings and imaging evidence we present a compelling of Mucopolysaccharidosis.

Fields of Study & Subjects

Lysosomal Storage Disorders Research Glycogen Storage Diseases and Myoclonus Proteoglycans and glycosaminoglycans research

Publication details

Journal / source
European Journal Pharmaceutical and Medical Research
Publication date
1 March 2026
Language
EN