aydın, elçin başkent üniversitesi - tıp fakültesi - radyoloji anabilim dalı, Türkiye , eraslan, cenk ege üniversitesi - tıp fakültesi - radyoloji anabilim dalı, Türkiye , canda, ebru ege üniversitesi - tıp fakültesi - çocuk metabolizma ve beslenme bilim dalı, Türkiye , yazıcı, havva ege üniversitesi - tıp fakültesi - çocuk metabolizma ve beslenme bilim dalı, Türkiye , uçar, sema kalkan ege üniversitesi - tıp fakültesi - çocuk metabolizma ve beslenme bilim dalı, Türkiye , çoker, mahmut ege üniversitesi - tıp fakültesi - çocuk metabolizma ve beslenme bilim dalı, Türkiye , çallı, cem ege üniversitesi - tıp fakültesi - radyoloji anabilim dalı, Türkiye , kitiş, ömer ege üniversitesi - tıp fakültesi - radyoloji anabilim dalı, Türkiye

Spinal involvement in mucopolysaccharidosis type IVa (Morquio syndrome): The importance of MRG in diagnosis and follow-up

15026

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.

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Mucopolysaccharidosis , Morquio syndrome , spinal , magnetic resonance imaging

Ege Journal Of Medicine

114