title: Internal carotid artery surgical revascularization in a pediatric patient with Schimke immuno-osseous dysplasia.
abstract: Schimke immuno-osseous dysplasia (SIOD) is a rare autosomal recessive disorder characterized by spondyloepiphyseal dysplasia, episodic lymphopenia, renal failure, and cerebrovascular disease secondary to arteriosclerosis and myointimal hyperplasia. In this paper the authors report the first known application of internal carotid artery (ICA) surgical revascularization to relieve a high-grade focal stenosis of the ICA in a pediatric patient, a 6-year-old boy with SIOD. The clinical presentation, imaging features, operative technique, and postoperative course are described and the molecular genetics, pathophysiology, and treatment considerations in SIOD are discussed.
authors.affiliation: Department of Neurosurgery and Stanford Stroke Center, Stanford University School of Medicine, Stanford, California.
authors.forename: Erick M
authors.initials: EM
authors.lastname: Westbroek
authors.forename: Nitin
authors.initials: N
authors.lastname: Mukerji
authors.forename: Paul
authors.initials: P
authors.lastname: Kalanithi
authors.forename: Gary K
authors.initials: GK
authors.lastname: Steinberg
mesh_terms: D001161:Arteriosclerosis / Q000150:complications / Q000175:diagnosis* / Q000503:physiopathology / Q000601:surgery*; D002343:Carotid Artery, Internal / Q000473:pathology / Q000601:surgery*; D016893:Carotid Stenosis / Q000175:diagnosis / Q000209:etiology / Q000473:pathology / Q000601:surgery*; D002648:Child; D006801:Humans; D006965:Hyperplasia / Q000209:etiology; D007153:Immunologic Deficiency Syndromes / Q000150:complications / Q000175:diagnosis* / Q000503:physiopathology / Q000601:surgery*; D007676:Kidney Failure, Chronic / Q000209:etiology / Q000601:surgery; D018810:Magnetic Resonance Angiography; D008279:Magnetic Resonance Imaging / Q000379:methods; D008297:Male; D009392:Nephrectomy; D009404:Nephrotic Syndrome / Q000150:complications / Q000175:diagnosis* / Q000503:physiopathology / Q000601:surgery*; D010009:Osteochondrodysplasias / Q000150:complications / Q000175:diagnosis* / Q000209:etiology / Q000503:physiopathology / Q000601:surgery*; D010530:Peritoneal Dialysis; D000081207:Primary Immunodeficiency Diseases; D011655:Pulmonary Embolism / Q000150:complications / Q000175:diagnosis* / Q000503:physiopathology / Q000601:surgery*; D014057:Tomography, X-Ray Computed; D016896:Treatment Outcome; D017539:Tunica Intima / Q000473:pathology
keywords: ICA = internal carotid artery; SIOD = Schimke immuno-osseous dysplasia; carotid endarterectomy; dysplasia; vascular disorders