scholarly journals A Potential Role for Felbamate in TSC- and NF1-Related Epilepsy: A Case Report and Review of the Literature

2015 ◽  
Vol 2015 ◽  
pp. 1-8 ◽  
Author(s):  
Natanya M. Mishal ◽  
Dimitrios Arkilo ◽  
Ju Tang ◽  
John R. Crawford ◽  
Sonya G. Wang

A 15-year-old girl with maternal inheritance of neurofibromatosis type 1 (NF1) and paternal inheritance of tuberous sclerosis complex (TSC) developed intractable epilepsy at age 5. Her seizures were refractory to adequate doses of four antiepileptic medications until felbamate was initiated at age 7. She has since remained seizure-free on felbamate monotherapy. Although felbamate has multiple mechanisms of action, it is thought to have its most potent antiepileptic effects through inhibition of theN-methyl-D-aspartate receptor (NMDAR). Previous studies have shown that the NMDAR is altered in varying epilepsy syndromes and notably in the cortical tubers found in TSC. The aim of this paper is to examine how felbamate monotherapy was able to achieve such robust antiepileptic effects in a unique patient and possibly offer a novel therapeutic approach to patients suffering from TSC- and NF-related epilepsy.

2014 ◽  
Vol 05 (03) ◽  
pp. 269-271 ◽  
Author(s):  
Swaroopa Pulivarthi ◽  
Byron Simmons ◽  
John Shearen ◽  
Murali Krishna Gurram

ABSTRACTNeurofibromatosis is generally a benign disease, but has the potential for rare and fatal complications, such as spontaneous hemothorax. We report a case of massive hemothorax due to neurofibroma in a 49-year-old woman with neurofibromatosis type 1. The configuration of the radiological opacity and frank blood withdrawn on thoracentesis should suggest the diagnosis of hemothorax in a patient with neurofibromatosis. Surgical treatment for hemothorax is limited by arterial fragility and the prognosis is relatively poor. Any evidence of aneurysmal disease in the thoracic vessels should be aggressively managed percutaneously by coil embolization to prevent future rupture.


2020 ◽  
Vol 8 (9) ◽  
pp. 2064-2067
Author(s):  
M. Benayada ◽  
N. Chmichi ◽  
A. Bennani ◽  
A. Lakhdar ◽  
N. Zeraidi ◽  
...  

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