Cavernous angioma after chemotherapy for desmoplastic/nodular medulloblastoma associated with anhidrotic ectodermal dysplasia

• Published in: Child's nervous system 2016-02, Vol.32 (2), p.395-398
• Main Authors: Yamasaki, Fumiyuki, Takayasu, Takeshi, Nosaka, Ryo, Kawaguchi, Hiroshi, Sugiyama, Kazuhiko, Kobayashi, Masao, Kurisu, Kaoru
• Format: Article
• Language: English
• Subjects: Antineoplastic Combined Chemotherapy Protocols - adverse effects; Brain Neoplasms - chemically induced; Brain Neoplasms - complications; Brain Neoplasms - pathology; Brain Neoplasms - surgery; Carboplatin - administration & dosage; Case Report; Cerebellar Neoplasms - therapy; Child, Preschool; Cisplatin - administration & dosage; Cyclophosphamide - administration & dosage; Ectodermal Dysplasia - complications; Etoposide - administration & dosage; Hemangioma, Cavernous, Central Nervous System - chemically induced; Hemangioma, Cavernous, Central Nervous System - complications; Hemangioma, Cavernous, Central Nervous System - pathology; Hemangioma, Cavernous, Central Nervous System - surgery; Humans; Infant; Intracranial Hemorrhages - etiology; Male; Medicine; Medicine & Public Health; Medulloblastoma - therapy; Melphalan - administration & dosage; Methotrexate - administration & dosage; Neurosciences; Neurosurgery; Neurosurgical Procedures; Peripheral Blood Stem Cell Transplantation - adverse effects; Vincristine - administration & dosage
• ISSN: 0256-7040; 1433-0350
• DOI: 10.1007/s00381-015-2848-6

Purpose While 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. Methods A 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. Results After 2 years, intracranial hemorrhage was detected at his regular radiological check-up and he again underwent surgery. The histological diagnosis was CVA. Conclusions To our knowledge, this is the first report of AED-associated DNMB and CVA.