Progression of organ manifestations upon enzyme replacement therapy in a patient with mucopolysaccharidosis type I/Hurle
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Progression of organ manifestations upon enzyme replacement therapy in a patient with mucopolysaccharidosis type I/Hurler Saadet Mercimek-Mahmutoglu, Christopher Reilly, Derek Human, Paula J. Waters, Sylvia Stoeckler-Ipsiroglu Vancouver, Canada
Methods: We present the outcome of a patient with MPSI/Hurler after 14 months of ERT prior to HSCT. Results: Urinary glucosaminoglycan excretion decreased by 70% after one month of ERT. Liver volume decreased by 14% of baseline after 12 months of ERT. Pre-existing thoracolumbar kyphosis progressed to thoracolumbar dislocation with complete displacement of facets after 12 months of ERT. New development of mitral valve thickening was found by echocardiography and mild hearing loss progressed to severe sensorineural hearing loss after 13 months of ERT. Conclusions: ERT over a period of 14 months did not prevent progression of organ manifestations in our patient. Patients should be monitored every 6 months for cardiac, skeletal and audiological involvement on ERT. World J Pediatr 2009;5(4):319-321 Key words: Hurler disease; laronidase; mucopolysaccharidosis type I
Introduction
M
ucopolysaccharidosis type I (MPSI) is an autosomal recessively inherited lysosomal storage disorder (OMIM: 607014, 607015, 607016) caused by a deficiency of alpha-L-iduronidase (IDUA) (EC 3.2.1.76). The disorder is characterized by a progressive multisystem disease with coarse facial features, progressive dysostosis multiplex, joint contractures, cardiac valve changes, upper airway obstruction, hepatosplenomegaly, corneal clouding and various degrees of central nervous system (CNS) involvement. The clinical spectrum ranges from severe MPSI/Hurler with progressive neuro-cognitive deterioration to attenuated forms.[1] Hematopoietic stem cell transplantation (HSCT) is the treatment of choice for patients with severe disease prior to CNS involvement.[2] Enzyme replacement therapy (ERT) with recombinant human IDUA (Laronidase) has been shown to be effective in improvement of upper airway obstruction, joint mobility and reduction of hepatosplenomegaly.[3] ERT is increasingly used as an interim treatment in Hurler patients prior to HSCT.[4] We report the outcome of a patient with Hurler after 14 months of ERT prior to HSCT.
Case report Author Affiliations: Division of Biochemical Diseases, Department of Pediatrics, British Columbia Children's Hospital, Vancouver, Canada (Mercimek-Mahmutoglu S, Stoeckler-Ipsiroglu S); Department of Orthopedics, British Columbia Children's Hospital, Vancouver, Canada (Reilly C); Division of Cardiology, Department of Pediatrics, British Columbia (Human D); Biochemical Genetics Laboratory, Department of Pathology and Laboratory Medicine, British Columbia Children's Hospital, Vancouver, Canada (Waters PJ) Corresponding Author: Saadet Mercimek-Mahmutoglu, MD, FCCMG, British Columbia Children's Hospital, Division of Biochemical Genetic Diseases, Room K3-208, ACB, 4480 Oak Street, Vancouver, B.C., Canada V6H 3V4 (Tel: 604-875-2628; Fax: 604-875-2349; Email: smahmutoglu@ cw.bc.ca)
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