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.
References
- Solanki GA, Martin KW, Theroux MC, et al. Spinal involvement in mucopolysaccharidosis IVA (Morquio-Brailsford or Morquio A syndrome): Presentation, diagnosis and management. J Inherit Metab Dis 2013;36(2):339-55.
- Montano AM, Tomatsu S, Gottesman GS, Smith M, Orii T. International Morquio a registry: Clinical manifestation and natural course of Morquio A disease. J Inherit Metab Dis 2007;30(2):165-74.
- Tomatsu S, Montano AM, Oikawa H, et al. Mucopolysaccharidosis type IVA (Morquio A disease): Clinical review and current treatment. Curr Pharm Biotechnol 2011;12(6):931-45.
- Hendriksz CJ, Al-Jawad M, Berger KI, et al. Clinical overview and treatment options for non-skeletal manifestations of mucopolysaccharidosis type IVA. J Inherit Metab 2013;36(2):309-22.
- Hughes DG, Chadderton RD, Cowie RA, Wraith JE, Jenkins JP. MRI of the brain and craniocervical junction in Morquio’s disease. Neuroradiology 1997;39(5):381-5.
- Northover H, Cowie RA, Wraith JE. Mucopolysaccharidosis type IVA (Morquio syndrome): A clinical review. J Inherit Metab Dis 1996;19(3):357-65.
- Lachman R. Taybi and Lachman's Radiology of Syndromes, Metabolic Disorders and Skeletal Dysplasias Mosby; Philadelphia: 2007.
- Kessler JT. Congenital narrowing of the cervical spinal canal. J Neurol Neurosurg Psychiatry 1975;38(12):1218-24.
- Blaw ME, Langer LO. Spinal cord compression in Morquio-Brailsford’s disease. J Pediatr 1969;74(4):593-600.
- Dalvie S, Skinner J, Vellodi A, Noorden MH. Mobile thoracolumbar gibbus in Morquio type A: The cause of paraparesis and its management. J Pediatr Orthop B 2001;10(4):328-30.
- Holte DC, Rogers MA, Ransford AO, Crockard HA. Thoracic spinal cord compression in Morquio-Brailsford’s disease. Neuro Orthopedics 1994;16(1):31–7.
- Stevens JM, Kendall BE, Crockard HA, Ransford A. The odontoid process in Morquio-Brailsford's disease. The effects of occipitocervical fusion. J Bone Joint Surg Br 1991;73(5):851-8.
- Ashraf J, Crockard HA, Ransford AO, Stevens JM. Transoral decompression and posterior stabilisation in Morquio’s disease. Arch Dis Child 1991;66(11):1318-21.
- Ransford AO, Crockard HA, Stevens JM, Modaghegh S. Occipito-atlanto-axial fusion in Morquio-Brailsford syndrome. A ten-year experience. J Bone Joint Surg Br 1996;78(2):307-13.
- Mackenzie WG, Dhawale AA, Demczko MM, et al. Flexionextension cervical spine MRI in children with skeletal dysplasia: Is it safe and effective? J Pediatr Orthop 2013;33(1):91-8.
- Ain MC, Chaichana KL, Schkrohowsky JG. Retrospective study of cervical arthrodesis in patients with various types of skeletal dysplasia. Spine 2006;31(6):169-74.
- Houten JK, Kinon MD, Goodrich JT. Morquio’s syndrome and craniocervical instability. Pediatr Neurosurg 2011;47(3):238-40.
- Lyseng-Williamson KA. Elosulfase Alfa: A review of its use in patients with mucopolysaccharidosis type IVA (Morquio A syndrome). BioDrugs 2014;28(5):465-75.
- Regier DS, Tanpaiboon P Role of elosulfase alfa in mucopolysaccharidosis IVA. Appl Clin Genet. 2016;14(9):67-74.
Abstract
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.
References
- Solanki GA, Martin KW, Theroux MC, et al. Spinal involvement in mucopolysaccharidosis IVA (Morquio-Brailsford or Morquio A syndrome): Presentation, diagnosis and management. J Inherit Metab Dis 2013;36(2):339-55.
- Montano AM, Tomatsu S, Gottesman GS, Smith M, Orii T. International Morquio a registry: Clinical manifestation and natural course of Morquio A disease. J Inherit Metab Dis 2007;30(2):165-74.
- Tomatsu S, Montano AM, Oikawa H, et al. Mucopolysaccharidosis type IVA (Morquio A disease): Clinical review and current treatment. Curr Pharm Biotechnol 2011;12(6):931-45.
- Hendriksz CJ, Al-Jawad M, Berger KI, et al. Clinical overview and treatment options for non-skeletal manifestations of mucopolysaccharidosis type IVA. J Inherit Metab 2013;36(2):309-22.
- Hughes DG, Chadderton RD, Cowie RA, Wraith JE, Jenkins JP. MRI of the brain and craniocervical junction in Morquio’s disease. Neuroradiology 1997;39(5):381-5.
- Northover H, Cowie RA, Wraith JE. Mucopolysaccharidosis type IVA (Morquio syndrome): A clinical review. J Inherit Metab Dis 1996;19(3):357-65.
- Lachman R. Taybi and Lachman's Radiology of Syndromes, Metabolic Disorders and Skeletal Dysplasias Mosby; Philadelphia: 2007.
- Kessler JT. Congenital narrowing of the cervical spinal canal. J Neurol Neurosurg Psychiatry 1975;38(12):1218-24.
- Blaw ME, Langer LO. Spinal cord compression in Morquio-Brailsford’s disease. J Pediatr 1969;74(4):593-600.
- Dalvie S, Skinner J, Vellodi A, Noorden MH. Mobile thoracolumbar gibbus in Morquio type A: The cause of paraparesis and its management. J Pediatr Orthop B 2001;10(4):328-30.
- Holte DC, Rogers MA, Ransford AO, Crockard HA. Thoracic spinal cord compression in Morquio-Brailsford’s disease. Neuro Orthopedics 1994;16(1):31–7.
- Stevens JM, Kendall BE, Crockard HA, Ransford A. The odontoid process in Morquio-Brailsford's disease. The effects of occipitocervical fusion. J Bone Joint Surg Br 1991;73(5):851-8.
- Ashraf J, Crockard HA, Ransford AO, Stevens JM. Transoral decompression and posterior stabilisation in Morquio’s disease. Arch Dis Child 1991;66(11):1318-21.
- Ransford AO, Crockard HA, Stevens JM, Modaghegh S. Occipito-atlanto-axial fusion in Morquio-Brailsford syndrome. A ten-year experience. J Bone Joint Surg Br 1996;78(2):307-13.
- Mackenzie WG, Dhawale AA, Demczko MM, et al. Flexionextension cervical spine MRI in children with skeletal dysplasia: Is it safe and effective? J Pediatr Orthop 2013;33(1):91-8.
- Ain MC, Chaichana KL, Schkrohowsky JG. Retrospective study of cervical arthrodesis in patients with various types of skeletal dysplasia. Spine 2006;31(6):169-74.
- Houten JK, Kinon MD, Goodrich JT. Morquio’s syndrome and craniocervical instability. Pediatr Neurosurg 2011;47(3):238-40.
- Lyseng-Williamson KA. Elosulfase Alfa: A review of its use in patients with mucopolysaccharidosis type IVA (Morquio A syndrome). BioDrugs 2014;28(5):465-75.
- Regier DS, Tanpaiboon P Role of elosulfase alfa in mucopolysaccharidosis IVA. Appl Clin Genet. 2016;14(9):67-74.
Details
| Primary Language | Turkish |
|---|---|
| Subjects | Health Care Administration |
| Journal Section | Research Articles |
| Authors | |
| Publication Date | September 1, 2017 |
| Submission Date | August 2, 2016 |
| Published in Issue | Year 2017Volume: 56 Issue: 3 |
