PURPOSE: Mucopolysaccharidosis (MPS) I is a rare autosomal recessive lysosomal storage disease. Thoracolumbar kyphosis is an early characteristic feature of the disease. Ossification failure in the anterosuperior quadrant of the vertebral body results in anterior dislocation. This study describes the surgical management of thoracolumbar kyphosis in MPS IH (Hurler syndrome) in a national reference center. METHODS: Among 72 MPS I patients followed in our institution, we treated surgically 14 MPS IH patients with severe thoracolumbar kyphosis. The decision was made after documented deformity progression. Mean age at surgery was 8 (3.5-15) years. Sagittal imbalance of the trunk was constant. One patient underwent extended fusion for associated scoliosis. We retrospectively reviewed 13 patients who underwent selective circumferential fusion at the thoracolumbar level. RESULTS: Average preoperative kyphosis was +57.5°(+30°; +90°). Surgical correction of the kyphosis was about 66 % and maintained at final follow-up. Fusion was obtained in all patients. Two patients required revision surgery consecutively to a previous posterior-only fusion, as a significant loss of correction occurred. One patient presented delayed neurologic deficit secondarily to cardiac embolism. One patient died postoperatively from cardiorespiratory failure. CONCLUSION: Surgery is necessary when kyphosis is progressive despite orthopedic management, aggravating the multifactorial trunk imbalance. Regarding our experience, circumferential arthrodesis should be recommended to achieve stable correction. Surgical management requires a multidisciplinary approach due to multisystemic failure and neurological risks specific to metabolic disorders.
PURPOSE:Mucopolysaccharidosis (MPS) I is a rare autosomal recessive lysosomal storage disease. Thoracolumbar kyphosis is an early characteristic feature of the disease. Ossification failure in the anterosuperior quadrant of the vertebral body results in anterior dislocation. This study describes the surgical management of thoracolumbar kyphosis in MPS IH (Hurler syndrome) in a national reference center. METHODS: Among 72 MPS Ipatients followed in our institution, we treated surgically 14 MPS IHpatients with severe thoracolumbar kyphosis. The decision was made after documented deformity progression. Mean age at surgery was 8 (3.5-15) years. Sagittal imbalance of the trunk was constant. One patient underwent extended fusion for associated scoliosis. We retrospectively reviewed 13 patients who underwent selective circumferential fusion at the thoracolumbar level. RESULTS: Average preoperative kyphosis was +57.5°(+30°; +90°). Surgical correction of the kyphosis was about 66 % and maintained at final follow-up. Fusion was obtained in all patients. Two patients required revision surgery consecutively to a previous posterior-only fusion, as a significant loss of correction occurred. One patient presented delayed neurologic deficit secondarily to cardiac embolism. One patient died postoperatively from cardiorespiratory failure. CONCLUSION: Surgery is necessary when kyphosis is progressive despite orthopedic management, aggravating the multifactorial trunk imbalance. Regarding our experience, circumferential arthrodesis should be recommended to achieve stable correction. Surgical management requires a multidisciplinary approach due to multisystemic failure and neurological risks specific to metabolic disorders.
Authors: S Ebara; T Kinoshita; Y Yuzawa; J Takahashi; I Nakamura; H Hirabayashi; R Uozumi; M Kimura; K Takaoka Journal: J Clin Neurosci Date: 2003-05 Impact factor: 1.961
Authors: Klane K White; Michael B Bober; Tae-Joon Cho; Michael J Goldberg; Julie Hoover-Fong; Melita Irving; Shawn E Kamps; William G Mackenzie; Cathleen Raggio; Samantha A Spencer; Viviana Bompadre; Ravi Savarirayan Journal: Orphanet J Rare Dis Date: 2020-06-24 Impact factor: 4.123
Authors: Gé-Ann Kuiper; Eveline J Langereis; Sandra Breyer; Marco Carbone; René M Castelein; Deborah M Eastwood; Christophe Garin; Nathalie Guffon; Peter M van Hasselt; Pauline Hensman; Simon A Jones; Vladimir Kenis; Moyo Kruyt; Johanna H van der Lee; William G Mackenzie; Paul J Orchard; Neil Oxborrow; Rossella Parini; Amy Robinson; Elke Schubert Hjalmarsson; Klane K White; Frits A Wijburg Journal: Orphanet J Rare Dis Date: 2019-01-18 Impact factor: 4.123
Authors: Christiane S Hampe; Jacob Wesley; Troy C Lund; Paul J Orchard; Lynda E Polgreen; Julie B Eisengart; Linda K McLoon; Sebahattin Cureoglu; Patricia Schachern; R Scott McIvor Journal: Biomolecules Date: 2021-01-29