Morquio syndrome: a rehabilitation perspective.
Morquio Syndrome (mucopolysaccharidosis type IV A) is a rare inherited connective tissue disorder characterized by skeletal dysplasia, restrictive pulmonary disease and normal intelligence. Tetraplegia secondary to subluxation of C1 over C2 because of odontoid dysplasia is a common occurrence in these patients but there are limited descriptions regarding their specific physiatric management. Two patients (aged 20 and 17 years) were admitted to a pediatric rehabilitation facility after cervical spine stabilization following recurrent tetraplegia (C4 ASIA C and C4 ASIA D). Following surgery, patients were ventilator dependent and aphonic. One patient was successfully weaned off the ventilator to nocturnal BiPAP, while the other was able to tolerate three hours of ventilator free time despite being ventilator dependent for ten years. At discharge, both patients showed significant improvement in mobility, self care skills and communication abilities. Functional independence was encouraged through use of various assistive devices for mobility, activities of daily living (ADL) and communication. Group counseling and peer support were extremely helpful in their adjustment to disability. Physiatric intervention is essential and requires understanding of the unique impairments encountered by tetraplegics with Morquio Syndrome.
Gulati
M S
MS
Department of Physical Medicine and Rehabilitation, University of Medicine and Dentistry, New Jersey Medical School, Newark, USA.
Agin
M A
MA
D000203:Activities of Daily Living / Q000145:classification; D000293:Adolescent; D000328:Adult; D002574:Cervical Vertebrae / Q000000981:diagnostic imaging; D003131:Combined Modality Therapy; D005260:Female; D005500:Follow-Up Studies; D006801:Humans; D004204:Joint Dislocations / Q000000981:diagnostic imaging / Q000534:rehabilitation*; D009085:Mucopolysaccharidosis IV / Q000000981:diagnostic imaging / Q000534:rehabilitation*; D009809:Odontoid Process / Q000002:abnormalities* / Q000000981:diagnostic imaging; D010348:Patient Care Team; D026741:Physical Therapy Modalities; D011782:Quadriplegia / Q000000981:diagnostic imaging / Q000534:rehabilitation*; D011859:Radiography; D013123:Spinal Fusion / Q000534:rehabilitation; D016896:Treatment Outcome; D015300:Ventilator Weaning