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Resolution of obstructive sleep apnea in Hurler syndrome after bone marrow transplantation. 1988

B N Malone, and C B Whitley, and A J Duvall, and K Belani, and R K Sibley, and N K Ramsay, and J H Kersey, and W Krivit, and N T Berlinger
Department of Otolaryngology, University of Minnesota, University Hospital, Minneapolis 55455.

Hurler syndrome, a lethal inborn error of lysosomal metabolism, results from the systemic accumulation of glycosaminoglycan. The progressive deposition of glycosaminoglycan in tissues of the upper aerodigestive tract has been suspected as the cause of airway obstruction, and many children have required tracheostomy. In a 3-year-old patient with Hurler syndrome, polysomnography confirmed the clinical impression of obstructive sleep apnea. Biopsy of an enlarged tonsil demonstrated that more than half the tissue volume resulted from abnormal lysosomal inclusions in macrophages. Three months after transplantation, repeat testing demonstrated resolution of airway obstruction, and 6 months after transplantation, tonsil biopsy showed complete absence of lysosomal inclusions. Bone marrow transplantation produces effective metabolic correction for Hurler syndrome and may be life-saving for patients with obstructive apnea.

UI MeSH Term Description Entries
D008059 Mucopolysaccharidosis I Systemic lysosomal storage disease caused by a deficiency of alpha-L-iduronidase (IDURONIDASE) and characterized by progressive physical deterioration with urinary excretion of DERMATAN SULFATE and HEPARAN SULFATE. There are three recognized phenotypes representing a spectrum of clinical severity from severe to mild: Hurler syndrome, Hurler-Scheie syndrome and Scheie syndrome (formerly mucopolysaccharidosis V). Symptoms may include DWARFISM; hepatosplenomegaly; thick, coarse facial features with low nasal bridge; corneal clouding; cardiac complications; and noisy breathing. Hurler's Syndrome,Hurler-Scheie Syndrome,Lipochondrodystrophy,Mucopolysaccharidosis V,Pfaundler-Hurler Syndrome,Scheie's Syndrome,Gargoylism,Gargoylism, Hurler Syndrome,Hurler Disease,Hurler Syndrome,Hurler's Disease,Mucopolysaccharidosis 1,Mucopolysaccharidosis 5,Mucopolysaccharidosis I-S,Mucopolysaccharidosis Type I,Mucopolysaccharidosis Type Ih,Mucopolysaccharidosis Type Ih S,Mucopolysaccharidosis Type Is,Scheie Syndrome,alpha-L-Iduronidase Deficiency,Disease, Hurler's,Gargoylisms,Hurler Scheie Syndrome,Hurler Syndrome Gargoylism,Lipochondrodystrophies,Mucopolysaccharidosis I S,Mucopolysaccharidosis Is,Mucopolysaccharidosis Type Ihs,Syndrome, Hurler's,Syndrome, Scheie's,Type Ih, Mucopolysaccharidosis,Type Ihs, Mucopolysaccharidosis,alpha L Iduronidase Deficiency,alpha-L-Iduronidase Deficiencies
D011859 Radiography Examination of any part of the body for diagnostic purposes by means of X-RAYS or GAMMA RAYS, recording the image on a sensitized surface (such as photographic film). Radiology, Diagnostic X-Ray,Roentgenography,X-Ray, Diagnostic,Diagnostic X-Ray,Diagnostic X-Ray Radiology,X-Ray Radiology, Diagnostic,Diagnostic X Ray,Diagnostic X Ray Radiology,Diagnostic X-Rays,Radiology, Diagnostic X Ray,X Ray Radiology, Diagnostic,X Ray, Diagnostic,X-Rays, Diagnostic
D002675 Child, Preschool A child between the ages of 2 and 5. Children, Preschool,Preschool Child,Preschool Children
D005260 Female Females
D006801 Humans Members of the species Homo sapiens. Homo sapiens,Man (Taxonomy),Human,Man, Modern,Modern Man
D000402 Airway Obstruction Any hindrance to the passage of air into and out of the lungs. Choking,Airway Obstructions,Obstruction, Airway,Obstructions, Airway
D012891 Sleep Apnea Syndromes Disorders characterized by multiple cessations of respirations during sleep that induce partial arousals and interfere with the maintenance of sleep. Sleep apnea syndromes are divided into central (see SLEEP APNEA, CENTRAL), obstructive (see SLEEP APNEA, OBSTRUCTIVE), and mixed central-obstructive types. Apnea, Sleep,Hypersomnia with Periodic Respiration,Sleep-Disordered Breathing,Mixed Central and Obstructive Sleep Apnea,Sleep Apnea, Mixed,Sleep Apnea, Mixed Central and Obstructive,Sleep Hypopnea,Apnea Syndrome, Sleep,Apnea Syndromes, Sleep,Apneas, Sleep,Breathing, Sleep-Disordered,Hypopnea, Sleep,Hypopneas, Sleep,Mixed Sleep Apnea,Mixed Sleep Apneas,Sleep Apnea,Sleep Apnea Syndrome,Sleep Apneas,Sleep Apneas, Mixed,Sleep Disordered Breathing,Sleep Hypopneas
D014066 Palatine Tonsil A round-to-oval mass of lymphoid tissue embedded in the lateral wall of the PHARYNX. There is one on each side of the oropharynx in the fauces between the anterior and posterior pillars of the SOFT PALATE. Tonsil,Tonsil, Palatine,Palatine Tonsils,Tonsils,Tonsils, Palatine
D016026 Bone Marrow Transplantation The transference of BONE MARROW from one human or animal to another for a variety of purposes including HEMATOPOIETIC STEM CELL TRANSPLANTATION or MESENCHYMAL STEM CELL TRANSPLANTATION. Bone Marrow Cell Transplantation,Grafting, Bone Marrow,Transplantation, Bone Marrow,Transplantation, Bone Marrow Cell,Bone Marrow Grafting

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