Desmoplastic/nodular medulloblastoma associated with anhidrotic ectodermal dysplasia

International Cancer Conference Journal - 2013
Yosuke Watanabe1, Fumiyuki Yamasaki1, Kazuhiro Nakamura2, Yoshinori Kajiwara1, Takeshi Takayasu1, Takanori Hirose3, Vishwa Jeet Amatya4, Kazuhiko Sugiyama5, Masao Kobayashi2, Kaoru Kurisu1
1Department of Neurosurgery, Hiroshima University Graduate School of Biomedical and Health Sciences, Hiroshima, Japan
2Department of Pediatrics, Hiroshima University Graduate School of Biomedical and Health Sciences, Hiroshima, Japan
3Department of Diagnostic Pathology, Tokushima Prefectural Central Hospital, Tokushima, Japan
4Department of Pathology, Hiroshima University Graduate School of Biomedical and Health Sciences, Hiroshima, Japan
5Department of Clinical Oncology and Neuro-oncology Program, Cancer Treatment Center, Hiroshima University Hospital, Hiroshima, Japan

Tóm tắt

We encountered a 1-year-old boy with desmoplastic/nodular medulloblastoma (DNMB) associated with anhidrotic ectodermal dysplasia (AED). He was admitted to our institute because of ingravescent vomiting. On physical examination, a depressed nasal bridge, low-set ears, thick lips with peg-shaped teeth, hypohidrosis, sparse hair, thin atrophic skin, scaly dermatitis with frontal bossing, enlarged head size, and bulging anterior fontanel were observed. Neuroradiological examination revealed multiple cerebellar masses with heterogeneous enhancement and speckled calcifications. Severe obstructive hydrocephalus was also observed. He underwent surgery based on histologically diagnosed DNMB, and received postoperative multiple-drug chemotherapy with a completely favorable outcome. One year has passed and the disease-free patient is still doing well without any unwanted events. AED was diagnosed on the basis of the clinical findings: this is probably the first report on AED-associated DNMB.

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Tài liệu tham khảo

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