TY - JOUR
T1 - Neurofibromatosis type 2 patient presenting with medulloblastoma
AU - Kalimullah, Jan
AU - Sohail, Abdul Malik Amir Humza
AU - Shahjehan, Rai Dilawar
AU - Siddique, Sabeehuddin
AU - Bari, Muhammad Ehsan
PY - 2015/10/1
Y1 - 2015/10/1
N2 - Background: Neurofibromatosis type 2 (NF2) is an autosomal dominant syndrome with a frequency of 1 in 25,000 live births and a penetrance of almost 100% by the sixth decade of life. The main tumors occurring in NF2 patients are bilateral vestibular schwannomas, other peripheral, cranial and spinal nerve schwannomas, intracranial and intraspinal meningiomas, ependymomas, and gliomas. Case Description : We report the case of a 6-year-old boy who presented with a 1-month history of nausea and recurrent vomiting. Physical examination was positive for ataxic gait and left-sided facial nerve palsy. Family history was positive for NF2 in the patient's father and paternal uncle. Magnetic resonance imaging brain revealed a solid enhancing lesion arising from the right cerebellar cortex, which was effacing the fourth ventricles and causing hydrocephalus. Craniotomy and excision of the lesion were performed. Histopathology report confirmed the diagnosis to be desmoplastic medulloblastoma. Based on the patients' subsequent history and family history, he was diagnosed to be a case of NF2. Conclusion: This is the first case of medulloblastoma occurring in a patient with NF2 and raises the possibility of an association between medulloblastoma and NF2.
AB - Background: Neurofibromatosis type 2 (NF2) is an autosomal dominant syndrome with a frequency of 1 in 25,000 live births and a penetrance of almost 100% by the sixth decade of life. The main tumors occurring in NF2 patients are bilateral vestibular schwannomas, other peripheral, cranial and spinal nerve schwannomas, intracranial and intraspinal meningiomas, ependymomas, and gliomas. Case Description : We report the case of a 6-year-old boy who presented with a 1-month history of nausea and recurrent vomiting. Physical examination was positive for ataxic gait and left-sided facial nerve palsy. Family history was positive for NF2 in the patient's father and paternal uncle. Magnetic resonance imaging brain revealed a solid enhancing lesion arising from the right cerebellar cortex, which was effacing the fourth ventricles and causing hydrocephalus. Craniotomy and excision of the lesion were performed. Histopathology report confirmed the diagnosis to be desmoplastic medulloblastoma. Based on the patients' subsequent history and family history, he was diagnosed to be a case of NF2. Conclusion: This is the first case of medulloblastoma occurring in a patient with NF2 and raises the possibility of an association between medulloblastoma and NF2.
KW - Association
KW - brain neoplasm
KW - medulloblastoma
KW - neurofibromatosis type 2
UR - http://www.scopus.com/inward/record.url?scp=84959460576&partnerID=8YFLogxK
U2 - 10.4103/2152-7806.166771
DO - 10.4103/2152-7806.166771
M3 - Article
AN - SCOPUS:84959460576
SN - 2152-7806
VL - 6
SP - S440-S443
JO - Surgical Neurology International
JF - Surgical Neurology International
ER -