When Bones Tell the Story: Skeletal Manifestations of Mucopolysaccharidosis in Two Pediatric Patients

Authors

Alia Yassine Kassab, Lina Lasri, Mehdi Salmane, Sarah Loubaris, Fatima Zohra Benbrahim, Lina Belkouchi, Siham El Haddad, Nazik Allali, Latifa Chat

Journal Information

Journal: Medpeer Publisher

ISSN: 3066-2737

Volume: 3

Issue: 3

Date of Publication: 2026/03/05

DOI: 10.70780/medpeer.000QGRM

Abstract

Mucopolysaccharidoses (MPS) are inherited lysosomal storage disorders characterized by progressive skeletal abnormalities collectively known as dysostosis multiplex. Imaging plays a central role in recognizing these changes and guiding diagnosis.
We report two pediatric cases investigated for suspected MPS with characteristic skeletal involvement demonstrated on radiography and computed tomography.
The first case involved a 16-year-old patient presenting with congenital lower limb deformities and patellar instability. CT revealed femoral diaphyseal bowing, metaphyseal–epiphyseal enlargement, trochlear dysplasia, and lateral patellar dislocation.
The second case concerned 5-year-old child, in whom conventional imaging demonstrated paddle-shaped ribs, cervical vertebral body deformities, pelvic asymmetry, and superior dislocation of the right femoral head.
These findings were consistent with dysostosis multiplex and highlight the importance of imaging in supporting early diagnosis of mucopolysaccharidosis.

Keywords

Mucopolysaccharidosis, Dysostosis multiplex, Pediatric skeletal deformities, Patellar instability