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Neonatal diagnosis of tuberous sclerosis.

作者信息

Ramenghi L A, Verrotti A, Domizio S, Di Rocco C, Morgese G, Sabatino G

机构信息

Neonatal Intensive Care Unit, Ospedale Pediatrico, University of Chieti, Italy.

出版信息

Childs Nerv Syst. 1996 Feb;12(2):121-3. doi: 10.1007/BF00819512.

DOI:10.1007/BF00819512
PMID:8674081
Abstract

Intracranial tumors are rare in the neonatal period, and generally the most common histological types are astrocytoma, medulloblastoma, choroid plexus papilloma and neuroectodermal tumors. The early diagnosis of these tumors is often very difficult. The authors report a case of a full-term newborn who presented with opisthotonus. A subependymal mass was detected by cerebral ultrasonography, and when the child was 1 month of age depigmentations appeared on the trunk and on the right leg, confirming the suspicion of tuberous sclerosis. At 3 months of age the child suffered infantile spasm with hypsarrhythmia. The developmental delay, the marked progressive neurological deterioration and the daily seizures suggested surgical resection. Histologic studies showed a subependymal giant cell astrocytoma such as typically occurs in tuberous sclerosis.

摘要

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Tuberous sclerosis in a term newborn with opisthotonus - The value of ultrasound.一名足月儿患结节性硬化症并伴有角弓反张——超声检查的价值
J Ultrasound. 2008 Mar;11(1):26-9. doi: 10.1016/j.jus.2007.10.001. Epub 2007 Dec 3.
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Congenital subependymal giant cell astrocytoma: clinical considerations and expression of radial glial cell markers in giant cells.

本文引用的文献

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Antenatal diagnosis of tuberous sclerosis.结节性硬化症的产前诊断。
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Subependymal giant cell astrocytoma in children with tuberous sclerosis.结节性硬化症患儿的室管膜下巨细胞星形细胞瘤
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Sequential CT study of subependymal giant-cell astrocytoma associated with tuberous sclerosis. Case report.结节性硬化症相关室管膜下巨细胞星形细胞瘤的序贯CT研究。病例报告。
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Neonatal brain tumors: CT and MR findings.
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Subependymal giant-cell astrocytoma associated with tuberous sclerosis. Do subependymal nodules grow?与结节性硬化症相关的室管膜下巨细胞星形细胞瘤。室管膜下结节会生长吗?
Childs Nerv Syst. 1989 Feb;5(1):43-4. doi: 10.1007/BF00706748.
10
Neonatal subependymal giant cell astrocytoma associated with tuberous sclerosis: MRI, CT, and ultrasound correlation.与结节性硬化症相关的新生儿室管膜下巨细胞星形细胞瘤:MRI、CT及超声相关性研究
Neurology. 1991 Jan;41(1):124-8. doi: 10.1212/wnl.41.1.124.