Morquio Disease as a cause of atlanto-axial subluxation

Mohammed Yassaad Oudrhiri, Saadia Aidi

PAMJ. 2013; 15:72. Published 25 Jun 2013 | doi:10.11604/pamj.2013.15.72.2872

A 12 years old boy, with no past medical history, presented to the neurology department with a 7 years clinical course of untreated limping, progressive kyphosis, repeated shoulder dislocation, and, recently, progressive limbs weakness. On examination, the patient was short trunked with fixed cervical hyperextension and thoracolumbar kyphosis. Also noted were genu valgum and ligamentous laxity. Neurological examination showed a spastic quadriparesis (3/5), exaggerated reflexes and bilateral Babinsky sign. Sensory function was normal, so as intelligence. Axial and appendicular X-ray radiographs demonstrated odontoid hypoplasia and possible occipito-cervical dislocation, a platyspondyly (image A, arrow), acetabular dysplasia (image B, arrow) and metacarpal irregular proximal ends (image C, arrow). MRI of the craniocervical junction revealed severe spinal cord compression at C1-C2 level with marked instability and dislocation (image D, arrow), odontoid hypoplasia associated with a soft tissue mass around (image E, arrow). All were suggestive of the mucopolysaccharidosesÂ’ origin. Laboratory investigations showed an over excretion of the keratane sulfate which comforted the diagnosis. The differential diagnosis of the image can be made with the atlanto-axial subluxation in rheumatoid arthritis, ankylosing spondylitis, and pseudo-gout (CPPD). The patient was proposed for a cervical posterior decompression with occiput-to C2 fusion, which was declined by his family when surgical procedure risks were explained.
Corresponding author
Mohammed Yassaad Oudrhiri, Neurosurgery department, Ibn Sina Hospital, Rabat; Morocco (yassaad.oudrhiri@gmail.com)

This image

Articles published in PAMJ are Open Access and distributed under the terms of the Creative Commons Attribution 4.0 International (CC BY 4.0).

eISSN: 1937-8688


The Pan African Medical Journal (ISSN: 1937-8688) is a subsidiary of the Pan African Medical Journal. The contents of this journal is intended exclusively for professionals in the medical, paramedical and public health and other health sectors.

Currently tracked by: DOAJ, AIM, Google Scholar, AJOL, EBSCO, Scopus, Embase, IC, HINARI, Global Health, PubMed Central, PubMed/Medline, ESCI

Physical address: Kenya: 3rd Floor, Park Suite Building, Parkland Road, Nairobi. PoBox 38583-00100, tel: +254 (0)20-520-4356 | Cameroon: Immeuble TechnoPark Essos, Yaounde, PoBox: 10020 Yaounde, tel: +237 (0)24-309-5880