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重度婴儿涎酸沉积症颅内血管病变的彩色多普勒成像

Colour Doppler imaging of intracranial vasculopathy in severe infantile sialidosis.

作者信息

Ries M, Deeg K H, Wölfel D, Ibel H, Maier B, Buheitel G

机构信息

Pediatric Hospital, University of Erlangen-Nürnberg, FRG.

出版信息

Pediatr Radiol. 1992;22(3):179-81. doi: 10.1007/BF02012489.

DOI:10.1007/BF02012489
PMID:1508583
Abstract

Neonatal ascites is usually attributed to prenatal infections, lysosomal storage disease and anomalies of the genitourinary tract, gastrointestinal tract or cardiovascular system. We report one case of neonatal ascites associated with infantile sialidosis. Cerebral sonography showed stripe-like intracerebral echogenicities in the region of the basal ganglia. Colour Doppler imaging demonstrated blood flow within the echogenicities confirming the suspected diagnosis of intracranial vasculopathy.

摘要

新生儿腹水通常归因于产前感染、溶酶体贮积病以及泌尿生殖道、胃肠道或心血管系统的异常。我们报告一例与婴儿涎酸贮积症相关的新生儿腹水病例。脑部超声检查显示基底神经节区域有条状脑内强回声。彩色多普勒成像显示强回声区内有血流,证实了颅内血管病变的疑似诊断。

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1
Colour Doppler imaging of intracranial vasculopathy in severe infantile sialidosis.重度婴儿涎酸沉积症颅内血管病变的彩色多普勒成像
Pediatr Radiol. 1992;22(3):179-81. doi: 10.1007/BF02012489.
2
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[Sialidosis and galactosialidosis as the cause of non-immunologic hydrops fetalis].[唾液酸贮积症和半乳糖唾液酸贮积症作为非免疫性胎儿水肿的病因]
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引用本文的文献

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Sialidosis: A Review of Morphology and Molecular Biology of a Rare Pediatric Disorder.唾液酸沉积症:一种罕见儿科疾病的形态学与分子生物学综述
Diagnostics (Basel). 2018 Apr 25;8(2):29. doi: 10.3390/diagnostics8020029.
2
Type II sialidosis: review of the clinical spectrum and identification of a new splicing defect with chitotriosidase assessment in two patients.Ⅱ型唾液酸贮积症:临床表型综述及通过几丁质酶活性检测在两例患者中鉴定的新剪接缺陷。
J Neurol. 2009 Nov;256(11):1911-5. doi: 10.1007/s00415-009-5213-4. Epub 2009 Jul 1.
3
Neonatal lenticulostriate vasculopathy: further characterisation.

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