neurofibromatoses/seizures

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Seizures in neurofibromatosis 1.

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Neurofibromatosis 1 is a common, genetically transmitted neurodevelopmental disorder with a high potential to cause subcortical focal brain lesions. Although seizures occasionally complicate neurofibromatosis 1, they have not been characterized adequately in the disease. Other phacomatoses with

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

Seizure, spinal schwannoma, peripheral neuropathy and pulmonary stenosis - A rare combination in a patient of Neurofibromatosis 1.

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Neurofibromatosis 1 (NF1) is the most common neurocutaneous syndrome. It is estimated to occur in approximately 1 out of every 3300 infants. The manifestations of this condition are diverse and can arise from almost any system in the body. The neurofibroma is the hallmark lesion of NF1 that develops

Increased seizure susceptibility in a mouse model of neurofibromatosis type 1.

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Neurofibromatosis type 1 (NF1) is a neurocutaneous disorder linked to higher rates of epilepsy as compared with the general population. Although some epilepsy cases in NF1 are related to intracranial lesions, epileptogenic lesions are not always identified. It is unknown whether the genetic mutation

Neurofibromatosis 1-associated panhypopituitarism presenting as hypoglycaemic seizures and stroke-like symptoms.

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A 37-year-old man with a known history of neurofibromatosis 1 (NF1) presented within 2 days of diarrhoeal illness followed by encephalopathy, facial twitching, hypoglycaemia, hypotension, tachycardia and low-grade fever. Examination showed multiple café-au-lait spots and neurofibromas over the

Gastrointestinal Stromal Tumor in a Patient with Neurofibromatosis: Abscess Formation in the Tumor Leading to Bacteremia and Seizure.

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A 66-year-old woman with neurofibromatosis type 1 (NF1) was brought to the emergency room with seizures and high-grade fever. Seizure in adult NF1 patients raises concern for intracranial lesions. However, neurological examination and central nervous system imaging failed to detect any causative

[Seizures in neurofibromatosis. What is the risk?].

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BACKGROUND The prevalence and the type of seizures associated with neurofibromatosis 1 (NF1) and 2 (NF2) are not adequately characterized. BACKGROUND NF1 has a birth incidence of one in 2500, and NF2 one in 25000. Seizures are an occasional complication in NF1 patients and there is no data for NF2

Epileptic seizures in neurofibromatosis type 1 are related to intracranial tumors but not to neurofibromatosis bright objects.

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OBJECTIVE To investigate the relationship between intracranial lesions and epileptic seizures in neurofibromatosis type 1 (NF1) patients. BACKGROUND NF1 is one of the most common autosomal dominant neurocutaneous disorders, and epilepsy is more prevalent in NF1 patients than in the general

Pharmacoresistant seizures in neurofibromatosis type 1 related to hippocampal sclerosis: Three case presentation and review.

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Neurofibromatosis type 1 (NF1) is an autosomal dominantly inherited disorder, with an estimated prevalence of 1 in 3000-4000 people. Seizures occur 4-7% of individuals with NF1, mostly due to associated brain tumors or cortical malformations. Hippocampal sclerosis (HS) in the patients with NF1 has

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.

[Meningioangiomatosis with associated meningioma in a 4-year-old girl presenting with a focal seizure].

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Meningioangiomatosis is regarded as a rare, benign, hamartomatous malformation. Histopathologically, the lesion is characterized by circumscribed transcortical and leptomeningeal meningovascular proliferation with focal calcifications. It may be classified into cases with predominant cellular or

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

[Quality of life in children with neurofibromatosis type 1, based on their mothers' reports].

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OBJECTIVE The aim of this study was to investigate health-related quality of life (HRQoL) in children with neurofibromatosis type 1 (NF1) and to determine the factors affecting HRQoL in these children, with particular emphasis on NF1-specific findings and complications. METHODS The patient group

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

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