Large-Cell Medulloblastoma in Aicardi Syndrome. Case Report and Literature Review

Abstract

An eight-year-old girl with Aicardi syndrome (AIC) developed signs of increased intracranial pressure. A clinical and radiological investigation revealed a tumor in the posterior fossa, which was resected. The histopathological diagnosis was large-cell medulloblastoma. Eight months later, she died of a local recurrence, despite treatment with chemotherapy and radiotherapy according to a PNET protocol. In addition to the growth of a large-cell medulloblastoma at the location of the primary tumor and the meningeal spread of the tumor, the autopsy revealed major cortical and subcortical malformations of the brain. Various benign (e.g., plexus papillomas) and malignant tumors (angiosarcoma, embryonic carcinoma, and hepatoblastoma) have been reported in connection with Aicardi syndrome. A genetic analysis of AIC suggests that the mutation is localized on the distal part of the short arm of the X chromosome, an area that may be of importance for tumor development. This is the first report of a primary malignant brain tumor -- large-cell medulloblastoma -- in a patient with Aicardi syndrome.

Aicardi Syndrome: Follow-Up Investigation of Swedish Children Born in 1975-2002

“…Six patients had died at the ages of 3, 3, 4, 7, 9 and 10 years of age, respectively. Causes of death were infection in two children, heart failure with general deterioration in one, sudden and unexpected death in one, malignant large cell medulloblastoma in one [7] and malignant brain tumour in one child, respectively. By March 2006 12 girls were still alive, with a median age of 13.5 years (range: 3 -31 years) ( ᭹ ᭤ Fig.…”

Ophthalmologic findings in Aicardi syndrome

“…17–19 Up to 5% of affected girls have tumors or other disturbances in tissue differentiation. 20 Choroid plexus papillomas, arachnoid cysts, and retrobulbar cysts in the central nervous system have reported. Outside the central nervous system, benign teratomas in the soft palate, palatal hemangioma, gastric polyposis, scalp lipomas, angiosarcomas, embryonal carcinomas, and hepatoblastomas have all been observed.…”

“…Outside the central nervous system, benign teratomas in the soft palate, palatal hemangioma, gastric polyposis, scalp lipomas, angiosarcomas, embryonal carcinomas, and hepatoblastomas have all been observed. 20 …”

Aicardi syndrome, an unsolved mystery: Review of diagnostic features, previous attempts, and future opportunities for genetic examination

“…The incidence of tumors may also be increased in AIC, with the most common being choroid plexus papillomas (Pianetti Filho, Fonseca, & da Silva, ; Taggard & Menezes, ). Other types of malignancies previously described includes lipomas, angiosarcomas, hepatoblastomas, intestinal polyposis, embryonal carcinomas, and large‐cell medulloblastoma (Kamien & Gabbett, ; Palmer, Nordborg, Steneryd, Aman, & Kyllerman, ; Sutton et al, ). More recently, one individual presented with metastatic malignant sacrococcygeal teratoma (with yolk sac elements), who was successfully treated using three cycles of high‐dose chemotherapy with autologous stem cell rescue (Wharton et al, ).…”