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后颅窝肿瘤与PHACES综合征:一例报告

Posterior fossa neoplasm and PHACES syndrome: a case report.

作者信息

Wallen Katharine E, Hadar Eldad J, Perry Victor, Bouldin Thomas W, Loehr James, Blatt Julie

机构信息

Division of Pediatric Hematology Oncology, The University of North Carolina, Chapel Hill, NC 27599-7236, USA.

出版信息

J Pediatr Hematol Oncol. 2009 Mar;31(3):203-5. doi: 10.1097/MPH.0b013e3181983b15.

Abstract

A 4-year-old girl with PHACES syndrome (posterior fossa brain malformations, hemangiomas, arterial anomalies, cardiac anomalies/coarctation of the aorta, eye abnormalities, and sternal clefting/supraumbilical raphe) developed a cerebellar pilocytic astrocytoma 18 months after resolution of her neck, ear, and thoracic hemangiomas. Because cutaneous hemangiomas may have involuted by the time a patient is diagnosed with a central nervous system neoplasm, it seems possible that in other such patients the association may have gone unrecognized. Cerebellar pilocytic astrocytoma may be a rare manifestation of the posterior fossa malformations of PHACES.

摘要

一名患有PHACES综合征(后颅窝脑畸形、血管瘤、动脉异常、心脏异常/主动脉缩窄、眼部异常以及胸骨裂/脐上缝)的4岁女孩,在其颈部、耳部和胸部血管瘤消退18个月后,患上了小脑毛细胞型星形细胞瘤。由于在患者被诊断出患有中枢神经系统肿瘤时,皮肤血管瘤可能已经消退,所以在其他此类患者中,这种关联可能未被识别。小脑毛细胞型星形细胞瘤可能是PHACES后颅窝畸形的一种罕见表现。

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