scholarly journals Seizures in Adult with Neurofibromatosis Type 1

2021 ◽  
Author(s):  
Demet İlhan Algin ◽  
Oğuz Osman Erdinç
Keyword(s):  
Drug Therapy ◽  
Brain Tumors ◽  
Surgical Resection ◽  
Neurofibromatosis Type 1 ◽  
Hippocampal Sclerosis ◽  
Neurofibromatosis Type ◽  
Cortical Malformations ◽  
Drug Resistant Epilepsy ◽  
Eeg Features

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.

scholarly journals Surgical resection of rare internal jugular vein aneurysm in neurofibromatosis type 1

2017 ◽  
Vol 5 (12) ◽  
pp. 419-422 ◽  
Author(s):  
Khortnal Delvecchio ◽  
Fazaldin Moghul ◽  
Bipinchandra Patel ◽  
Susan Seman
Keyword(s):  
Surgical Resection ◽  
Internal Jugular Vein ◽  
Neurofibromatosis Type 1 ◽  
Jugular Vein ◽  
Neurofibromatosis Type

Macrocephaly Is Not a Predictor of Optic Pathway Glioma Development or Treatment in Neurofibromatosis Type 1

2016 ◽  
Vol 31 (14) ◽  
pp. 1540-1545 ◽  
Author(s):  
Stephanie M. Morris ◽  
Courtney L. Monroe ◽  
David H. Gutmann
Keyword(s):  
Prognostic Factor ◽  
Brain Tumors ◽  
Clinical Features ◽  
Neurofibromatosis Type 1 ◽  
Neurofibromatosis Type ◽  
Optic Pathway Glioma ◽  
Optic Pathway ◽  
Clinical Progression ◽  
Clinical Biomarkers

Neurofibromatosis type 1 is a common neurogenetic disorder characterized by significant clinical variability. As such, numerous studies have focused on identifying clinical, radiographic, or molecular biomarkers that predict the occurrence or progression of specific clinical features in individuals with neurofibromatosis type 1. One of these clinical biomarkers, macrocephaly, has been proposed as a prognostic factor for optic pathway glioma development. In the current study, the authors demonstrate that macrocephaly is not associated with the development of these brain tumors or the need to institute treatment for clinical progression. These findings suggest that macrocephaly is not a robust biomarker of optic pathway glioma formation or progression in children with neurofibromatosis type 1.

scholarly journals Intestinal Obstruction and Pheochromocytoma in a Patient Suffering from von Recklinghausen's Disease

2009 ◽  
Vol 2 ◽  
pp. CMED.S3315
Author(s):  
B. Bouhanick ◽  
M. Berry ◽  
S. Hascouet ◽  
J. Selves ◽  
J.M. Coindre ◽  
...  
Keyword(s):  
Adrenal Gland ◽  
Intestinal Obstruction ◽  
Surgical Resection ◽  
Neurofibromatosis Type 1 ◽  
Complex Disease ◽  
Malignant Tumors ◽  
Neurofibromatosis Type ◽  
Left Adrenal Gland ◽  
Inherited Diseases

GISTs are rare neoplasms, which were recently identified to be a distinct pathologic entity. They can develop in patients with neurofibromatosis type 1 (NF1) or may be sporadic. NF1 is one of the most common inherited diseases and is a complex disease, with patients having an increased prevalence of benign and malignant tumors, including pheochromocytomas. The association of pheochromocytoma(s) and GISTs in NF1 is very rare. We report an additional case of this triple association in a normotensive 60-year-old female with NF1 admitted for intestinal obstruction: a pheochromocytoma of the left adrenal gland was discovered and surgical resection is performed. We provide an overview of the literature. The coexistence of NF1-related pheochromocytoma and GISTs is uncommon, but perhaps not fortuitous, and endocrinologists should be aware of this.

Alternative splicing of neurofibromatosis type 1 gene transcript in malignant brain tumors: PCR analysis of frozen-section mRNA

1992 ◽  
Vol 6 (2) ◽  
pp. 83-87 ◽  
Author(s):  
Hiroshi Mochizuki ◽  
Toru Nishi ◽  
Janet M. Bruner ◽  
Polly S. Y. Lee ◽  
Victor A. Levin ◽  
...  
Keyword(s):  
Alternative Splicing ◽  
Brain Tumors ◽  
Neurofibromatosis Type 1 ◽  
Frozen Section ◽  
Neurofibromatosis Type ◽  
Pcr Analysis ◽  
Gene Transcript ◽  
Malignant Brain Tumors

Abstract 1295: The association between asthma and pediatric brain tumors in neurofibromatosis type 1

2014 ◽  
Author(s):  
Kimberly J. Johnson ◽  
Nancy Mueller ◽  
Evelyn Sharkey ◽  
Qian Liu ◽  
David H. Gutmann
Keyword(s):  
Brain Tumors ◽  
Neurofibromatosis Type 1 ◽  
Neurofibromatosis Type ◽  
Pediatric Brain Tumors ◽  
Pediatric Brain

scholarly journals Deep Vein Thrombosis in the Setting of Neurofibromatosis Type 1: Case Report

2021 ◽  
Author(s):  
Fernando Guedes ◽  
Francisco Torrão ◽  
Gabriel E. Sanches ◽  
Ana Caroline Siquara-de-Sousa ◽  
Arno von Ristow ◽  
...  
Keyword(s):  
Deep Vein Thrombosis ◽  
Surgical Resection ◽  
Neurofibromatosis Type 1 ◽  
Neurofibromatosis Type ◽  
Neurological Deficits ◽  
Histopathological Diagnosis ◽  
Genetic Syndrome ◽  
Vein Thrombosis ◽  
Deep Vein

Abstract Background Neurofibromatosis type 1 (NF1) is a genetic syndrome which typically presents with neurological manifestations. Some of the patients may also present with vasculopathies, among which arterial aneurysms and stenosis are the most common. Deep vein thrombosis (DVT) has rarely been described, and, to the best of our knowledge, the present is the first report of DVT due to venous compression by a neurofibroma in the setting of NF1. Case presentation This is the case of a 23-year-old male with NF1 who experienced DVT due to compression of the left posterior tibial veins by a large tumor arising from the tibial nerve. The DVT was acutely treated with enoxaparin and then with rivaroxaban. Two months after the diagnosis, Doppler ultrasonography showed partial recanalization and persistence of the DVT. The patient was then referred to neurosurgery for surgical resection of the tumor. There were no complications during the procedure, and the patient did not present postoperative neurological deficits. The final histopathological diagnosis was of a benign neurofibroma. After one year of follow-up with vascular surgery, the patient presented no more episodes of DVT. Conclusion In case there is a tumor compressing the deep vessels of the leg and promoting DVT, surgical resection with microsurgical techniques may be curative.

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