Posterior spinal fusion for scoliosis in mucopolysaccharidosis I (Hurler syndrome)
نویسندگان
چکیده
منابع مشابه
Hurler syndrome (Mucopolysaccharidosis type I).
To cite: Grech R, Galvin L, O’Hare A, et al. BMJ Case Rep Published online: [please include Day Month Year] doi:10.1136/bcr-2012008148 DESCRIPTION Hurler syndrome is a rare lysosomal storage disorder with a prevalence of 1 in 100 000. It is caused by a defective IDUA gene which codes for α-L iduronidase and has an autosomal recessive inheritance. Enzyme deficiency results in accumulation of der...
متن کاملMucopolysaccharidosis type I Hurler-Scheie syndrome affecting two sisters
Mucopolysaccharidosis I (MPS I) is a rare inherited disorder characterized by physical deformities and developmental anomalies. Part of a group of clinically progressive disorders, it is caused by the deficiency of the lysosomal enzyme, α-L -iduronidase, which results in intralysosomal accumulation of dermatan sulfate and heparan sulfate and in turn causes cell dysfunction. Two sisters, one 11 ...
متن کاملOpen issues in Mucopolysaccharidosis type I-Hurler
Mucopolysaccharidosis I-Hurler (MPS I-H) is the most severe form of a metabolic genetic disease caused by mutations of IDUA gene encoding the lysosomal α-L-iduronidase enzyme. MPS I-H is a rare, life-threatening disease, evolving in multisystem morbidity including progressive neurological disease, upper airway obstruction, skeletal deformity and cardiomyopathy. Allogeneic hematopoietic stem cel...
متن کاملPosterior spinal fusion for scoliosis due to anterior poliomyelitis.
This is a review at skeletal maturity of 118 patients treated by spinal fusion for scoliosis due to anterior poliomyelitis at the Royal National Orthopaedic Hospital from 1958 to 1963 inclusive. The diagnosis was based on a clinical history of febrile illness or respiratory infection in childhood, followed by flaccid paralysis of the muscles of the trunk or limbs. Some of the patients were unde...
متن کاملThoracoscopic spinal fusion compared with posterior spinal fusion for the treatment of thoracic adolescent idiopathic scoliosis.
BACKGROUND Posterior spinal fusion with segmental instrumentation is the gold standard for the surgical treatment of thoracic adolescent idiopathic scoliosis. More recently, anterior surgery and video-assisted thoracoscopic surgery with spinal instrumentation have become available. The purpose of the present study was to compare the radiographic and clinical outcomes as well as pulmonary functi...
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ژورنال
عنوان ژورنال: Interdisciplinary Neurosurgery
سال: 2019
ISSN: 2214-7519
DOI: 10.1016/j.inat.2019.100487