Cavernous angioma after chemotherapy for desmoplastic/nodular medulloblastoma associated with anhidrotic ectodermal dysplasia.
Cavernous angioma after chemotherapy for desmoplastic/nodular medulloblastoma associated with anhidrotic ectodermal dysplasia.
复制标题
与无汗性外胚层发育不良相关的促纤维增生性/结节性髓母细胞瘤化疗后的海绵状血管瘤。
DOI：
10.1007/s00381-015-2848-6
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发表时间：
2016
期刊：
影响因子：
--
通讯作者：
Kurisu K,
中科院分区：
文献类型：
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作者：
Yamasaki F;Takayasu T;Nosaka R;Kawaguchi H;Sugiyama K;Kobayashi M;Kurisu K,
目的颅脑照射后海绵状血管瘤（CVA）的发生已有文献记载，但其在大剂量化疗联合自体外周血干细胞移植（PBSCT）后的发展尚未见报道。我们报告了一例伴有无汗液外胚层发育不良（AED）的纤维组织增生/结节性髓母细胞瘤（DNMB）患者，在大剂量化疗和PBSCT后2年发生了CVA。方法收治1例1岁男童，伴有凹陷性呕吐。患者表现为头大，鼻梁凹陷，双耳低置，厚唇，牙钉状，少汗，头发稀疏，皮肤薄萎缩，鳞状皮炎伴额部隆起，前囟门鼓起。神经影像学检查显示多发性小脑肿块伴不均匀强化和斑点状钙化，并伴有严重的阻塞性脑积水。手术标本组织学诊断为DNMB，术后行自体PBSCT多药化疗。结果很好，他没有接受放疗。结果术后2年复查发现颅内出血，再次行手术治疗。组织学诊断为CVA。结论据我们所知，这是第一次报道aed相关的DNMB和CVA。
PurposeWhile cavernous angioma (CVA) after cranial irradiation has been documented, its development after high-dose chemotherapy with autologous peripheral blood stem cell transplantation (PBSCT) has not. We present a patient with desmoplastic/nodular medulloblastoma (DNMB) associated with anhidrotic ectodermal dysplasia (AED) who developed CVA 2 years after high-dose chemotherapy and PBSCT.MethodsA 1-year-old boy with ingravescent vomiting was admitted to our institute. He presented with a large head, a depressed nasal bridge, low-set ears, thick lips with peg-shaped teeth, hypohidrosis, sparse hair, thin atrophic skin, scaly dermatitis with frontal bossing, and a bulging anterior fontanel. Neuroradiological examination revealed multiple cerebellar masses with heterogeneous enhancement and speckled calcifications and severe obstructive hydrocephalus. The histological diagnosis of surgical specimens was DNMB, and he underwent postoperative multiple-drug chemotherapy with autologous PBSCT. The outcome was favorable and he did not undergo radiotherapy.ResultsAfter 2 years, intracranial hemorrhage was detected at his regular radiological check-up and he again underwent surgery. The histological diagnosis was CVA.ConclusionsTo our knowledge, this is the first report of AED-associated DNMB and CVA.