European Journal of Biomedical and Pharmaceutical Sciences

RADIOLOGICAL FEATURES OF MORQUIO’S SYNDROME- A RARE CASE REPORT

Dr. Prachya Jyoti Bora*, Dr. T. Sonowal and Dr. Parul Dutta

ABSTRACT

Purpose: To present a rare case of Morquio’s syndrome (Mucopolysaccharidosis Type IV). Methods: A 4 yr 7 month old male child with complains of progressive widening of wrist and knees and progressive deviation of lower limbs since 1 yr of age was referred. Results: There was progressive widening of chest with episodes of dyspnea. His height and weight were – 84 cm (< 3rd percentile) and 10 kg (< 3rd percentile) respectively. The other positive clinical findings were: presence of Frontal bossing; depressed nasal bridge; Broken teeth; Pectus carinatum; Genu valgum and Kyphoscoliosis. Conclusion: Mucopolysaccharidoses Type IV is a rare disease entity and appropriate clinical and imaging features are essential for diagnosis.

Keywords: Morquio syndrome, Mucopolysaccharidoses, Skeletal deformities.