Schimke immunoosseous dysplasia complicated by moyamoya phenomenon

Schimke immunoosseous dysplasia (SID) is an autosomal recessive spondyloepiphyseal dysplasia that was first described by Schimke et al. [1971: Lancet 2:1088–1089]. It is associated with premature arteriosclerosis and cerebral ischemia; however, the cerebral vascular abnormalities causing ischemia ha...

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Bibliographic Details
Published in:American journal of medical genetics 1998-06, Vol.78 (2), p.118-122
Main Authors: Boerkoel, Cornelius F., Nowaczyk, Malgorzata J.M., Blaser, Susan I., Meschino, Wendy S., Weksberg, Rosanna
Format: Article
Language:English
Subjects:
arteriosclerosis
Biological and medical sciences
Brain Ischemia - complications
Brain Ischemia - diagnostic imaging
Brain Ischemia - genetics
Brain Ischemia - physiopathology
cellular immunity
cerebral infarction
Child
Complex syndromes
Female
Humans
Male
Medical genetics
Medical sciences
Moyamoya Disease - complications
Moyamoya Disease - diagnostic imaging
Moyamoya Disease - genetics
Moyamoya Disease - physiopathology
moyamoya phenomenon
nephrotic syndrome
Osteochondrodysplasias - complications
Osteochondrodysplasias - diagnostic imaging
Osteochondrodysplasias - genetics
Osteochondrodysplasias - physiopathology
Pedigree
Radiography
Schimke immunoosseous dysplasia
spondyloepiphyseal dysplasia
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Description
Summary:Schimke immunoosseous dysplasia (SID) is an autosomal recessive spondyloepiphyseal dysplasia that was first described by Schimke et al. [1971: Lancet 2:1088–1089]. It is associated with premature arteriosclerosis and cerebral ischemia; however, the cerebral vascular abnormalities causing ischemia have not been described [Spranger et al., 1991: J Pediatr 119:64–72; Ehrich et al., 1995: Clin Nephrol 43:89–95]. Based on magnetic resonance angiography (MRA) and magnetic resonance venography (MRV), we now report on 2 girls with SID who have cerebral ischemia associated with moyamoya phenomenon. In addition, one patient also has an absent or occluded left transverse sinus and diffuse aortic narrowing. This is the first characterization of the cerebral vascular abnormality found in SID and raises the possibility that cerebral moyamoya may represent another major manifestation of the underlying genetic defect in SID. Am. J. Med. Genet. 78:118–122, 1998. © 1998 Wiley‐Liss, Inc.
ISSN:0148-7299
1096-8628
DOI:10.1002/(SICI)1096-8628(19980630)78:2<118::AID-AJMG4>3.0.CO;2-K