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

Algin, Demet Ilhan; Tezer, F. İrsel; Oğuz, Kader K.; Bilginer, Burçak; Söylemezoğlu, Figen; Saygı, Serap

doi:10.1016/j.jocn.2019.03.055

Cited by 7 publications

(4 citation statements)

References 20 publications

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“…Although paroxysms of convulsive status epilepticus are exceedingly rare, there have been few reports of NF-1 attributed hippocampal sclerosis, a finding that more commonly indicates a prior history of prolonged seizures. 26 This neuroimaging finding was not observed in our study population. In spite of the current revolution of knowledge regarding genetic risk factors of sudden unexpected death in epilepsy (SUDEP), neither changes in NF1 gene, nor concurrent clinical epilepsy characteristics are among the known SUDEP risk factors.…”

Section: Discussioncontrasting

confidence: 58%

Epilepsy and Electroencephalogram Characteristics in Children with Neurofibromatosis Type 1, What We Have Learned from a Tertiary Center Five Years’ Experience

Khair

Falchek

Nikam

et al. 2022

Child Neurology Open

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Introduction: Neurofibromatosis type 1(NF-1) is the commonest neurocutaneous phacomatosis in children. Epilepsy is an infrequent comorbidity. Reports of seizure and Electroencephalogram (EEG) characteristics in children are sparse. Methods: A retrospective review was performed on patients with NF-1 seen between 2016–2020. Patients with co-existing epilepsy were identified. Demographic, clinical, radiological and neurophysiological data were reviewed and analyzed. Results: Out of 118 children with NF1, 16 had epilepsy. 11 patients had focal onset seizures, whereas 5 had generalized onset seizures. Most patients had easy seizure control. Focal epileptiform discharges were the most prevalent EEG abnormality. There was no significant correlation between seizure patterns and presence of intracranial tumors. Conclusion: Epilepsy is a relatively uncommon in pediatric NF-1. Seizures are often of focal semiology and likely to be easily controlled. Focal and multifocal spike epileptiform discharges are the typical interictal EEG findings. Correlation of clinical and EEG findings with intracranial lesions is poor.

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Section: Discussioncontrasting

confidence: 58%

Epilepsy and Electroencephalogram Characteristics in Children with Neurofibromatosis Type 1, What We Have Learned from a Tertiary Center Five Years’ Experience

Khair

Falchek

Nikam

et al. 2022

Child Neurology Open

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“…Furthermore, comorbidities that include psychiatric disorders and seizures, when present, can result in a patient’s functional decline. Although NF-1 patients have a higher seizure prevalence compared to the general population, epilepsy is seen in about 4-7% of patients with this disorder [ 2 , 3 , 4 ]. Infantile spasms and febrile seizures may also be seen in patients with NF-1 [ 4 ].…”

Section: Introductionmentioning

confidence: 99%

“…Although NF-1 patients have a higher seizure prevalence compared to the general population, epilepsy is seen in about 4-7% of patients with this disorder [ 2 , 3 , 4 ]. Infantile spasms and febrile seizures may also be seen in patients with NF-1 [ 4 ]. The prevalence of this disorder is one in 3,000 births and the life expectancy will depend on the presence of comorbidities and the quality of life of the affected patient.…”

Section: Introductionmentioning

confidence: 99%

Glioma-Induced Seizure in a Neurofibromatosis Type 1 Patient: A Case Report

Quinonez¹,

Ruxmohan²,

Paesani³

et al. 2021

Cureus

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Neurofibromatosis type 1 (NF-1), also known as Von Recklinghausen's disease, is an autosomal-dominant disease that is characterized by high-frequency mutations leading to multiple benign tumors called neurofibromas and café au lait spots on the skin. Although NF-1 mainly affects the nervous system, it can have multisystem involvement as well, associated with the cardiovascular, orthopedic, gastrointestinal, and dermatologic systems. Psychiatric complications like anxiety, dysthymia, and depression have also been reported in patients with NF-1. The prevalence of this disorder is one in 3,000 births. NF-1 patients have a higher prevalence of seizures compared to the general population. A 20-year-old male with a diagnosis of NF-1 at the age of three months presented to the emergency room (ER) of a local hospital for the evaluation of an unwitnessed seizure characterized by loss of consciousness and bladder control. MRI of the brain without contrast revealed hyperintensities in the mesial temporal lobe bilaterally, with a hyperintense FLAIR lesion in the splenium of the corpus callosum. The patient exhibited sudden aggression and combativeness while in the ER and also experienced a second seizure, which prompted immediate intubation. A second MRI with contrast confirmed the presence of the lesion. The patient also underwent electroencephalogram (EEG) monitoring later during his hospital stay, the results of which were unremarkable. This case report discusses an adult male with NF-1 and a tumor of the splenium of the corpus callosum. The displayed imaging suggested a possible etiology for high seizure frequency in patients with NF-1 compared to the general population.

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“…Demet İlhan Algin* and Oğuz Osman Erdinç Faculty of Medicine, Department of Neurology, Eskişehir Osmangazi University, Eskişehir, Turkey *Address all correspondence to: ilhandemet@gmail.com Eighteen patients with mesial temporal sclerosis (MTS) who were followed up with a diagnosis of NF1 and epilepsy have been reported in the literature. Ten of the 18 patients were women and 8 were men, 10 patients had right MTS, 6 patients had left MTS and 1 patient had bilateral MTS [30].…”

Section: Author Detailsmentioning

confidence: 99%

Seizures in Adult with Neurofibromatosis Type 1

Algin¹,

Erdinç²

2022

Clinical and Basic Aspects of Neurofibromatosis Type 1

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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. Seizures in NF1 are often relatively easy to control with one or more conventional antiseizure drugs; surgical resection of offending lesions is sometimes pursued. Surgery has been most successful for temporal lobe gliomas. However, if you faced the drug-resistant epilepsy you may consider the cortical malformations, tumors and hippocampal sclerosis. In this chapter, it is aimed to explain the types of seizures, EEG features and the properties of drug therapy in NF1.

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

Cited by 7 publications

References 20 publications

Epilepsy and Electroencephalogram Characteristics in Children with Neurofibromatosis Type 1, What We Have Learned from a Tertiary Center Five Years’ Experience

Epilepsy and Electroencephalogram Characteristics in Children with Neurofibromatosis Type 1, What We Have Learned from a Tertiary Center Five Years’ Experience

Glioma-Induced Seizure in a Neurofibromatosis Type 1 Patient: A Case Report

Seizures in Adult with Neurofibromatosis Type 1

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