Atlantoaxial Instability and Cervical Cord Compression in Morquio Syndrome

Department of Radiology, Kaohsiung Veterans General Hospital, Taiwan.
Archives of neurology (Impact Factor: 7.42). 12/2010; 67(12):1530. DOI: 10.1001/archneurol.2010.308
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Available from: Ming-Feng Li
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    • "Odontoid hypoplasia is the most critical skeletal feature in any patient with Morquio syndrome. In fact, both mortality and morbidity are related primarily to atlantoaxial subluxation resulting from the instability of the odontoid process19). Therefore, several studies have suggested that patients who have an increased risk of developing symptoms of spinal cord compression require the application of a brace or an early prophylactic posterior cervical fusion20,21). "
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    ABSTRACT: Mucopolysaccharidosis IVA (MPS IVA; Morquio A syndrome) is rare lysosomal storage disorder caused by N-acetylgalactosamine-6-sulfatase (GALNS) deficiency. Only a few MPS IVA cases have been reported in the Korean literature; there is a paucity of research about clinical or radiologic findings for this disorder. Therefore, we studied clinical findings, radiological features, and genetic data of Korean MPS IVA patients for determining factors that may allow early diagnosis and that may thus improve the patients' quality of life. MPS IVA was confirmed via assay for enzymatic activity of leukocytes in 10 patients. The GALNS gene was analyzed. Patients' charts were retrospectively reviewed for obtaining clinical features and evaluated for radiological skeletal surveys, echocardiography, pulmonary function test, and ophthalmologic test results. Nine patients had severe clinical phenotype, and 1 had an intermediate phenotype, on the basis of clinical phenotype criteria. Radiologic findings indicated skeletal abnormalities in all patients, especially in the hips and extremities. Eight patients had an odontoid hypoplasia, and 1 showed mild atlantoaxial subluxation and cord myelopathy. Genetic analysis indicated 10 different GALNS mutations. Two mutations, c.451C>A and c.1000C>T, account for 37.5% (6/16) and 25% (4/16) of all mutations in this samples, respectively. An understanding of the clinical and radiological features involved in MPS IVA may allow early diagnosis of MPS IVA. Adequate evaluations and therapy in the early stages may improve the quality of life of patients suffering from skeletal abnormalities and may reduce life-threatening effects of atlantoaxial subluxation.
    Full-text · Article · Nov 2012 · Korean Journal of Pediatrics
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    • "(b) MRI sagittal T1 view of the cervical spine showing hypoplasia of the odontoid process with a mild cord compression at the level of C2-C3. are related primarily to atlantoaxial subluxation resulting from the instability of the odontoid process [12]. The internationally estimated incidence of Morquio syndrome type IV covers a wide range: 1 case/75.000 in Northern Ireland, 1 case/200.000 "
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    ABSTRACT: We report on a rare case of Morquio syndrome, an autosomal recessive mucopolysaccharidosis including type IVA, a deficiency of N-acetylgalctosamine-6-sulfatase and type IVB a deficiency of β-galactosidase. A 43-year-old female patient affected by IVB Morquio syndrome underwent instrumental investigation. Conventional plain films of the entire spine, pelvis, chest and knees together with magnetic resonance imaging of the entire column, hip, knees, and ankles demonstrated the characteristics of skeletal changes of this disease. The main abnormalities were platyspondily and hypoplasia of the odontoid process, genua valga deformity and severe multiple degenerative changes of the hips, knees, and ankle joints. Radiographs and above all magnetic resonance imaging are crucial to provide substantial information about the gravity, evolution of the skeletal and joints changes, and the rehabilitation strategies to be followed.
    Full-text · Article · Jul 2012 · Case Reports in Medicine

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