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neurofibromatosis 2/epileptischer anfall
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Intracranial calcification and seizures: a case of central neurofibromatosis.
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Periventricular calcification was found in an eight-year-old boy with seizures. The diagnosis of tuberous sclerosis was considered, but (like his mother) he has central neurofibromatosis. This condition must be considered in the differential diagnosis of children with intracranial calcification and
January 1997--7 year old girl with seizures.
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A seven year old girl presented with six month history of seizures. An MRI scan showed a cortical lesion in the left temporal lobe which was resected. Neuropathologic examination demonstrated meningioangiomatosis, an unusual hamartomatous condition sometimes associated with neurofibromatosis 2.
Diagnosis of sporadic neurofibromatosis type 2 in the paediatric population.
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OBJECTIVE
Onset of symptoms in severe sporadic neurofibromatosis type 2 (NF2) is typically within childhood; however, there is poor awareness of presenting features in young children, potentially resulting in delayed diagnosis and poorer outcome. We have reviewed presentation of sporadic paediatric
Focal inhibitory seizures: a cause of recurrent transient weakness.
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Focal seizures are usually manifest with stereotyped positive phenomena. However, seizures may also give negative phenomena, such as paralysis, speech arrest, neglect, atonia and numbness. We report a 39-year-old man with neurofibromatosis 2 who had recurrent stereotyped episodes of weakness
Social Independence of Patients with Neurofibromatosis Type 2 in Japan: Analysis of a National Registry of Patients Receiving Medical Expense Subsidies, 2004-2013
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Although it is important for patients with neurofibromatosis type 2 (NF2) to live independently and maintain good quality of life (QOL), no study has examined the social independence status in this patient population. This study aimed to examine the state of social independence and its contributing
Neurofibromatosis type 2. Case report.
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A case of a 24-year-old woman with peripheral paresis of the facial nerve, balance disturbance, hearing loss and epileptic seizures for many years is presented. At time of admission to hospital cerebral magnetic resonance imaging (MRI) showed several large tumors situated supra- and
Characterization of early onset neurofibromatosis type 2.
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Neurofibromatosis type 2 (NF2) is an autosomal dominant multiple neoplasia syndrome of the central nervous system. The aim of the present study was to characterize the clinical course of early onset NF2. The specific Japanese disease registry for NF2 in 2010 was analyzed retrospectively. The
[Epileptic seizure as the first neurologic symptom of Recklinghausen disease in a 10-year old boy with a brain tumor].
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Epileptic seizure as the first neurological symptom in von Recklinghausen disease (Neurofibromatosis type 1, NF 1) in 10 year old boy with cerebral tumour was described. Non-typical location of von Recklinghausen disease in central nervous system, characteristic for neurofibromatosis type II (NF2),
Novel neurofibromatosis type 2 mutation presenting with status epilepticus.
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Neurofibromatosis type 2 (NF2) is a dominantly inherited syndrome caused by mutations of the tumour-suppressor NF2, which encodes the merlin protein. Mutations are associated with a predisposition to development of benign tumours in the central nervous system. Even though cerebral cortical lesions
Neurofibromatosis Type 2.
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Neurofibromatosis type 2 (NF2) is a rare autosomal dominant disorder (incidence 1:33 000-40 000) characterized by formation of central nervous system tumors, due to mutation in the NF2 gene on chromosome 22q12. Vestibular schwannomas are the hallmark lesion, affecting 95% of individuals and
Earliest clinical manifestations and natural history of neurofibromatosis type 2 (NF2) in childhood: a study of 24 patients.
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BACKGROUND
Neurofibromatosis type 2 (NF2) is an autosomal dominant disease characterised by the development of multiple nervous system tumours, ocular abnormalities, and skin tumours. Although classically considered a disease of adults, initial signs and/or symptoms may be evident in childhood and
A clinical study of type 2 neurofibromatosis.
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The clinical features, age at onset of symptoms and survival of 150 patients with type 2 neurofibromatosis were studied. The mean age at onset was 21.57 years (n = 110) and no patients presented after 55 years of age. Patients presented with symptoms attributable to vestibular schwannomas (acoustic
Meningioangiomatosis in an otherwise healthy 13 year-old boy: A case report with emphasis on histopathological findings.
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Meningioangiomatosis is regarded as a rare benign hamartomatous condition mostly involving the cerebral cortex and overlying leptomeninges. A strong association of MA with neurofibromatosis type 2 has been documented in published articles. Herein we report a case of an otherwise healthy 13-year-old
Focal cortical dysplasia in meningioangiomatosis.
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Meningioangiomatosis is a rare, benign, developmental, or hamartomatous lesion which may involve the leptomeninges and underlying brain parenchyma. Histologically, meningioangiomatosis is marked by a proliferation of blood vessels in the parenchyma, rimmed by collars of spindled meningothelial
Meningio-angiomatosis in a patient with focal epilepsy: value of PET in diagnoses and preoperative planning of surgery.
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A 17-year-old boy with epileptic seizures due to meningio-angiomatosis without neurofibromatosis type 2 is presented. Low grade astrocytoma in the left temporal lobe was resected when he was 11 years old. A recurrence was suspected on following-up MRI and a positive PET scan with 11C-methionine PET
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