Mukopolisakkaridoz tip IVa’da (Morquio sendromu) spinal tutulum: Tanı ve izlemde MRG’nin önemi

Elçin Aydın; CENK Eraslan; Ebru Canda; Havva Yazıcı; Sema Kalkan Uçar; Mahmut Çoker; Mehmet Cem Çallı; Ömer Kitiş

doi:10.19161/etd.390224

EN TR

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

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.

Keywords

Mucopolysaccharidosis,Morquio syndrome,spinal,magnetic resonance imaging

Mukopolisakkaridoz tip IVa’da (Morquio sendromu) spinal tutulum: Tanı ve izlemde MRG’nin önemi

Öz

Amaç: Mukopolisakkaridoz (MPS) tip IVa (Morquio Sendromu) otozomal resesif geçişli N-asetilgalaktozamin-6- sulfataz eksikliği sonucu görülen multisistemik tutulum gösteren bir hastalıktır. İskelet sisteminin etkilenmesi temel bulgudur ve odontoid hipoplaziye bağlı servikal miyelopati ve atlantoaksiyal subluksasyona bağlı ağır nörolojik komplikasyon riski yüksektir. Şiddetli kifoskolyoz, platispondili, vertebra korpuslarında yuvarlaklaşma da sıklıkla izlenebilen diğer iskelet deformiteleridir. MPS IVa tanısıyla izlenen 12 hastanın klinik bulguları ve spinal manyetik rezonans görüntüleme (MRG) bulguları değerlendirildi.

Gereç ve Yöntem: MPS tip IVa tanısıyla izlenen 12 hastanın demografik özellikleri, sistem tutulumları ve spinal MRG bulguları kaydedildi.

Bulgular: Çalışmaya alınan hastaların yaş ortalaması 13.5 (4-33) iken, ortalama tanı yaşı 8 (3-32) idi. 12 hastadan 5’i erkek, 7’si kadındı. Sistemik muayenede korneal bulutlanma (11 olgu) işitme kaybı (5 olgu), hepatomegali (4 olgu), adenoid hipertrofi (opere edilmiş 4 olgu), kardiyak tutulum (9 olgu), tüm hastalarda kemik incelemede disostozis multipleks bulguları saptandı. Spinal MRG’de tüm hastalarda vertebra korpus yükseklik kaybı ve vertebra plana bulgusu, intervertebral disk mesafelerinde genişleme, farklı seviyelerde disk protrüzyonları, foramen magnumda daralma tespit edildi. Dört hastada foramen magnum düzeyinde kranioservikal bileşkede myelopatik değişiklikler görüldü.

Sonuç: Hastalar özellikle klinik ve radyolojik bulguları ile tedavi seçenekleri ve dekompresif cerrahi gerekliliği açısından değerlendirilmelidir. Hastaların multidisipliner izlemi, komplikasyonların önlenmesinde ve erken tedavide önem taşımaktadır.

Anahtar Kelimeler

Mukopolisakkaridoz,Morquio sendromu,spinal,manyetik rezonans görüntüleme

Kaynakça

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Ayrıntılar

Birincil Dil

Türkçe

Konular

Sağlık Kurumları Yönetimi

Bölüm

Araştırma Makalesi

Yazarlar

Elçin Aydın ^*
0000-0003-0907-3647
Türkiye

CENK Eraslan
0000-0002-5762-6149
Türkiye

Ebru Canda
0000-0002-9175-1998
Türkiye

Havva Yazıcı
0000-0002-2564-7420

Sema Kalkan Uçar
0000-0001-9574-7841
Türkiye

Mahmut Çoker
0000-0001-6494-9539
Türkiye

Mehmet Cem Çallı
0000-0001-9295-2866
Türkiye

Ömer Kitiş
0000-0003-4201-5449
Türkiye

Yayımlanma Tarihi

1 Eylül 2017

Gönderilme Tarihi

2 Ağustos 2016

Kabul Tarihi

6 Ekim 2016

Yayımlandığı Sayı

Yıl 2017 Cilt: 56 Sayı: 3

DOI

https://doi.org/10.19161/etd.390224

IZ

https://izlik.org/JA67FF23WU

Kaynak Göster

RIS / Bibtex

Vancouver

1.Elçin Aydın, CENK Eraslan, Ebru Canda, Havva Yazıcı, Sema Kalkan Uçar, Mahmut Çoker, Mehmet Cem Çallı, Ömer Kitiş. Mukopolisakkaridoz tip IVa’da (Morquio sendromu) spinal tutulum: Tanı ve izlemde MRG’nin önemi. ETD. 01 Eylül 2017;56(3):111-4. doi:10.19161/etd.390224