Spinal involvement in mucopolysaccharidosis type IVa (Morquio syndrome): The importance of MRG in diagnosis and follow-up
Journal Title: Ege Tıp Dergisi - Year 2017, Vol 56, Issue 3
Abstract
Aim: Mucopolysaccharidosis (MPS) type IVa (Morquio syndrome) is a disease that makes multisystemic involvement observed as a result of N-acetylgalactosamine-6-sulfatase deficiency with autosomal recessive transition. The effect on the skeletal system is the main finding and there is a high risk of cervical myelopathy due to odontoid hypoplasia and severe neurological complication due to atlantoaxial subluxation. Severe kyphoscoliosis, platyspondylia, rounding in vertebra corpus can be considered among other frequently encountered skeletal deformities. The clinical findings and spinal magnetic resonance imaging (MRI) findings of 12 patients monitored with a diagnosis of MPS IVa were evaluated. Materials and Methods: The demographic features, system involvement and spinal MRI findings of 12 patients monitored with MPS type IVa were recorded. Results: The average age of the patients included in the study is 13.5 (4-33) whereas the average age of diagnosis is 8 (3-32). Five patients among 12 patients were boys and 7 were girls. In systemic examination, corneal clouding (11 patients), hearing loss (5 patients), hepatomegaly (4 patients), adenoid hypertrophy (operated 4 patients), cardiac involvement (9 patients) and dysostoses multiplex were detected in all patients’ bone surveys. In spinal MRI, vertebra corpus height loss and vertebra plana finding, expansion in intervertebral disc distances, disc protrusions at various levels, contraction in foreman magnum were observed in all patients. In four patients, myelopathic variations were observed in craniocervical compound at the level of foramen magnum. Conclusion: The patients should be evaluated in terms of treatment options and decompressive surgical necessity with the clinical and radiological findings. The multidisciplinary follow-up of the patients has a significant role as to the prevention of complications and early treatment.
Authors and Affiliations
Elçin Aydın, CENK ERASLAN, Ebru Canda, Havva Yazıcı, Sema Kalkan Uçar, Mahmut Çoker, Mehmet Cem Çallı, Ömer Kitiş
Keywords
Related Articles
- EP ID EP335802
- DOI 10.19161/etd.390224
- Views 142
- Downloads 0
Rice bodies at bilateral subacromial bursa
Rice bodies with synovial origin look like cartilagie and they are usually composed of fibrin. Tuberculosis, rheumatoid arthritis or other seronegative arthropathies may be the etiology. In this report, a 48-year-old wom...
New stem cells
Sayın Editör, Ocak ayında sonuçları açıklanan bir çalışma bilim dünyasında dikkatleri üzerine çekti. Bu çalışmada Obokata ve ark. (1), somatik hücrelerin düşük pH gibi düşük bir stres karşısında yeniden programlanarak pl...
Fragmente QRS kompleksleri koroner anjiyografi uygulanan stabil koroner arter hastalarında daha yüksek Gensini skorunu öngördürmektedir
Amaç: Stabil koroner arter hastalığında (KAH) elektrokardiyografide (EKG) fragmente QRS (fQRS) varlığı ile anjiyografik olarak KAH yaygınlığı arasındaki ilişkiyi gösteren yeterli veri yoktur. Çalışmamızın amacı, stabil K...
Successful treatment of chronic disseminated candidiasis in acute myeloid leukemia patient
Chronic disseminated candidiasis (CDC) is a type of systemic disseminated candida infection and affects neutropenic patients. In this case report, a patient with acute myeloid leukemia (AML) who was diagnosed with CDC du...
Tekrarlayan akciğer enfeksiyonunun nadir bir nedeni: Jeune sendromu
Otozomal resesif geçişli bir hastalık olan Jeune sendromu, birçok sistem tutulumu ile giden nadir bir iskelet displazisidir. Asfiktik torasik distrofi olarak da bilinen bu hastalıkta, solunum sıkıntısına yol açan çan şek...