scholarly journals Detection of severe hypertension in a patient with neurofibromatosis type 1 during anesthesia induction: a case report

2019 ◽  
Vol 13 (1) ◽  
Author(s):  
Juan Wang ◽  
Guohua Wei ◽  
Zhongyun Wang ◽  
He Huang
Keyword(s):  
Neurofibromatosis Type 1 ◽  
Severe Hypertension ◽  
Neurofibromatosis Type ◽  
Anesthesia Induction ◽  
Catecholamine Level ◽  
Perioperative Morbidity ◽  
Delay In Diagnosis ◽  
Asymptomatic Patients ◽  
Glioma Resection

Abstract Background Neurofibromatosis type 1 has a higher prevalence of pheochromocytoma and paraganglioma than the general population: 1.0–5.7% versus 0.2–0.6%. Currently, there are no generally accepted guidelines for screening for pheochromocytoma and paragangliomas in asymptomatic patients with neurofibromatosis type 1. Case presentation Severe hypertension developed during anesthesia induction in our patient, a 44-year-old Chinese man with neurofibromatosis type 1. We screened for catecholamine level after glioma resection, and the patient was diagnosed with combined pheochromocytoma and paraganglioma. Conclusions A delay in diagnosis or lack of a diagnosis in pheochromocytoma and paraganglioma may increase the perioperative morbidity and mortality risk due to excess catecholamine secretion. Therefore, routine pheochromocytoma and paraganglioma screening preoperatively in patients with neurofibromatosis type 1 is very important.

scholarly journals The importance of pheochromocytoma case detection in patients with neurofibromatosis type 1: A case report and review of literature

2017 ◽  
Vol 5 ◽  
pp. 2050313X1774101 ◽  
Author(s):  
Joshua M Tate ◽  
Janelle B Gyorffy ◽  
Jeffrey A Colburn
Keyword(s):  
Neurofibromatosis Type 1 ◽  
Genetic Disorder ◽  
Neurofibromatosis Type ◽  
Active Duty ◽  
Case Detection ◽  
Review Of Literature ◽  
Active Duty Military ◽  
Asymptomatic Patients ◽  
Asymptomatic Individuals

Neurofibromatosis type 1 is a complex, multi-system genetic disorder that is associated with an increased prevalence of pheochromocytoma and paraganglioma compared to the general population, 1.0%–5.7% versus 0.2%–0.6%, respectively. A delay in pheochromocytoma and paraganglioma diagnosis or undiagnosed pheochromocytoma and paraganglioma, as seen in normotensive and asymptomatic patients, may portend a significant morbidity and mortality risk due to excess catecholamine secretion. Currently, there are no generally accepted guidelines of screening for pheochromocytoma and paragangliomas in asymptomatic individuals of this population with approaches and practices varying considerably between physicians. Emerging data suggest benefit in routine pheochromocytoma and paraganglioma screening of all individuals with neurofibromatosis type 1. Herein, we present a case to highlight how routine case detection screening would have identified pheochromocytoma earlier in an active duty military member.

scholarly journals RARE-03 CENTRAL NERVOUS SYSTEM TUMORS IN CHILDREN WITH NEUROFIBROMATOSIS TYPE 1, A COHORT FROM A NATIONAL PEDIATRIC ONCOLOGY CENTER

2021 ◽  
Vol 23 (Supplement_1) ◽  
pp. i41-i41
Author(s):  
Kim Vandenput ◽  
Lisethe Meijer ◽  
Netteke Schouten-van Meeteren
Keyword(s):  
Central Nervous System ◽  
Nervous System ◽  
Pediatric Oncology ◽  
Neurofibromatosis Type 1 ◽  
Neurofibromatosis Type ◽  
Optic Pathway Glioma ◽  
Optic Pathway ◽  
Cns Tumor ◽  
Asymptomatic Patients

Abstract Approximately 15% of the children with Neurofibromatosis type 1 (NF1) develop a central nervous system (CNS) tumor, predominantly optic pathway glioma. However, other brain tumor types are also frequent, resulting in a heterogenous population regarding tumor type, symptoms and treatment. Even though many tumors are indolent, clinical deterioration or radiological progression requires surveillance and treatment. Pediatric oncology care in the Netherlands has been centralized into the Princess Máxima Center since June 2018, providing care for the majority of Dutch NF1 CNS tumor patients. This retrospective cohort study describes the course of disease in NF1 patients with a CNS tumor diagnosed between 2005–2020, based on data from patient files. The population consisted of 95 patients (48 males), median age at diagnosis 4.3 (range 0.8–17.2) and 12.6 (range 2.9–19.9) years at follow up, 27% familiar NF1, mostly nonsense or frameshift mutations. Neurological and/or visual symptoms were present in 64 (67.4%) patients. 63.6% of the tumors was in the optic pathway, 9.1% in the cerebellum. Biopsy in 19/95 revealed 1 ependymoma and 18 low grade glioma, with rarely additional molecular changes besides NF1. Kaplan Meier median PFS was 24 months (range 3–174.5, n=65) in symptomatic presenting patients, 34 months (range 5–165, n=20) in asymptomatic patients with abnormal ophthalmological and/or neurological exam and 67.3 months (range 7–130, n=10) in asymptomatic patients without abnormalities at exam. Treatment was indicated in 53 (55.8%), predominantly chemotherapy (n=49), with substantial toxicity. Carboplatin allergy was seen in 29/44 (65.9%) patients, peripheral neuropathy in 21/46 (45.7%) patients receiving vincristine, and 5/10 patients receiving irinotecan and bevacizumab ended treatment early due to toxicity. In conclusion: analysis of our extensive cohort of NF1 patients with a CNS tumor indicates the relevance of regular screening of NF1 patients without complaints and critical surveillance and systematical documentation of treatment toxicity.

scholarly journals Severe Hypertension Leading to Hemorrhagic Stroke in Neurofibromatosis Type 1

Cureus ◽  
2021 ◽  
Author(s):  
Mohamed Faris ◽  
Michelle Baliss ◽  
Robert Coni ◽  
Vinod Nambudiri
Keyword(s):  
Neurofibromatosis Type 1 ◽  
Hemorrhagic Stroke ◽  
Severe Hypertension ◽  
Neurofibromatosis Type

scholarly journals Image Gallery: Segmental neurofibromatosis type 1 on the face. A 30‐year delay in diagnosis

2019 ◽  
Vol 182 (2) ◽  
Author(s):  
E. Vergara‐de Caso ◽  
L. Schneller‐Pavelescu ◽  
M.C. Martínez‐Hergueta ◽  
P.J. Álvarez‐Chinchilla ◽  
I. Poveda‐Montoyo ◽  
...  
Keyword(s):  
Neurofibromatosis Type 1 ◽  
Neurofibromatosis Type ◽  
Delay In Diagnosis ◽  
The Face

scholarly journals Revascularization in a 17-Year-Old Girl with Neurofibromatosis and Severe Hypertension Caused by Renal Artery Stenosis

2017 ◽  
Vol 44 (1) ◽  
pp. 50-54
Author(s):  
Carmen C. Beladan ◽  
Oliviana D. Geavlete ◽  
Simona Botezatu ◽  
Marin Postu ◽  
Bogdan A. Popescu ◽  
...  
Keyword(s):  
Blood Pressure ◽  
Renal Artery ◽  
Renal Artery Stenosis ◽  
Neurofibromatosis Type 1 ◽  
Severe Hypertension ◽  
Neurofibromatosis Type ◽  
Artery Stenosis ◽  
Left Renal Artery ◽  
Renal Angioplasty

Renal artery stenosis caused by neurofibromatosis is a rare cause of renovascular hypertension. This hypertension can develop during childhood and is one of the leading causes of poor outcome. We report the case of a 17-year-old girl who was incidentally diagnosed with severe hypertension. During her examination for secondary hypertension, we reached a diagnosis of neurofibromatosis type 1 on the basis of a cluster of typical findings: optic nerve glioma, café au lait spots, nodular neurofibromas, and axillary freckling. Renal angiograms revealed a hemodynamically significant left renal artery stenosis (70%). Renal angioplasty with a self-expanding stent was performed one month later for rapidly progressive renal artery stenosis (90%) and uncontrolled blood pressure. Excellent blood pressure control resulted immediately and was maintained as of the 2-year follow-up evaluation. We think that percutaneous transluminal renal angioplasty can be effective in select patients who have neurofibromatosis type 1 and refractory hypertension caused by renal artery stenosis.

Social information processing of children with Neurofibromatosis Type 1

2008 ◽  
Author(s):  
Jonathan M. Kurss ◽  
Anna E. Craig ◽  
Jennifer Reiter-Purtill ◽  
Kathryn Vannatta ◽  
Cynthia Gerhardt
Keyword(s):  
Information Processing ◽  
Neurofibromatosis Type 1 ◽  
Social Information Processing ◽  
Social Information ◽  
Neurofibromatosis Type
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