Multiple inherited Schwannomas, meningiomas, and ependymomas (MISME): A case report on rare case of neurofibromatosis type 2 tumors

摘要

Neurofibromatosis type 2 (NF-2) is an autosomal dominant inheritance, chromosome 22q12 mutations in peripher and central nervous systems. Several literatures have discussed rare cases of triple NF-2 tumor, known as multiple inherited Schwannomas, meningiomas and ependymomas or MISME. Incidence of MISME reported from many country, but never been reported from Indonesia. Hopefully the MISME presence can be more revealed in our country and adding the evidence in world literature. A 15-year-old boy presented to our center with a progressive bilateral hearing loss for 2years and started to experience weakness of both lower extremities since 1.5years. Patient underwent both craniotomy intracranial and spinal tumor removal. Histopathological result showed Schwannomas, meningiomas and ependymoma. Diagnosis of MISME was made and had been treated with excellent clinical outcome. We are reporting a rare case of MISME syndrome, which is an extremely exceptional case in our center due to rare occurrence of MISME and the need to confirm NF-2 diagnosis using molecular investigations. Highlights ? Multiple inherited Schwannomas, meningiomas and ependymomas (MISME) reported from many country, but never from Indonesia. ? MISME is very rare, the occurrence in our center extremely rare; our case adding the evidence of MISME in world literature. ? NF-2 final diagnosis must be confirmed by molecular investigation.