scholarly journals Secondary glomerulonephritis in neurofibromatosis type 1. Two case reports

2019 ◽  
Vol 42 (3) ◽  
Keyword(s):  
Neurofibromatosis Type 1 ◽  
Case Reports ◽  
Neurofibromatosis Type ◽  
Secondary Glomerulonephritis

Cervical Vertebral Artery Aneurysms and Arteriovenous Fistulae in Neurofibromatosis Type 1: Case Reports

Neurosurgery ◽  
1991 ◽  
Vol 29 (5) ◽  
pp. 760-765 ◽  
Author(s):  
Wouter I. Schievink ◽  
David G. Piepgras
Keyword(s):  
Vertebral Artery ◽  
Neurofibromatosis Type 1 ◽  
Case Reports ◽  
Artery Aneurysm ◽  
Neurofibromatosis Type ◽  
Neck Mass ◽  
Vascular Lesions ◽  
Subclavian Artery Aneurysm ◽  
Extracranial Vertebral Artery

Abstract Neurofibromatosis is of particular interest to neurosurgeons because of the various central and peripheral nervous system tumors and, more rarely, cervicocerebral arterial lesions associated with the disease. In the present paper, we report two patients with neurofibromatosis Type 1 (von Recklinghausen's disease) who had anomalies of the extracranial vertebral arteries. A large extracranial vertebral artery' aneurysm was incidentally discovered in the first patient, a 43-year-old woman, after rupture of a subclavian artery aneurysm. The second patient, a 28-year-old woman, had an enlarging neck mass and was found to have an extensive extracranial vertebral artery arteriovenous fistula. The vascular lesions associated with neurofibromatosis Type 1 in general and those arising from the extracranial vertebral artery in particular are reviewed.

scholarly journals Exploring associations between constipation, severity of neurofibromatosis type 1 and NF1 mutational spectrum

2021 ◽  
Vol 11 (1) ◽  
Author(s):  
Cecilie Ejerskov ◽  
Mette Gaustadnes ◽  
John R. Ostergaard ◽  
klaus Krogh ◽  
Kasper Thorsen ◽  
...  
Keyword(s):  
Quality Of Life ◽  
Neurofibromatosis Type 1 ◽  
Case Reports ◽  
Gastrointestinal Symptoms ◽  
Neurofibromatosis Type ◽  
Illness Burden ◽  
Mutational Spectrum ◽  
High Degree

AbstractNeurofibromatosis type 1 (NF1) is inherited in an autosomal dominant manner and is a rather common rare disease. Until recently, studies on gastrointestinal symptoms in patients with NF1 have been few and mostly described as case reports. In three previously published studies, the frequency of constipation in patients with NF1 has been found to be as high as 30%. In this study, associations between the frequency of constipation and NF1 disease severity and NF1 mutational spectrum were investigated. Among 277 patients with NF1, 49 had constipation. The highest rate of constipation was found among patients with a high perception of NF1 illness burden, and patients with constipation had a significantly higher NF1 illness burden when comparing the “not bothered” and the “very bothered” (p = 0.013). We found no significant association between constipation and the remaining measures on severity of NF1, nor between constipation and genetic variants. When observing the NF1 mutational spectrum, one variant (c.1013A>G (p.Asp338Gly/p.?) was identified in three patients with constipation of which two patients were related. The variant c.2970_2972delAAT (p.Met992del) associated with a mild NF1 phenotype was identified in two related patients with constipation. This study is the first to explore the association between symptoms of constipation, NF1 severity, and NF1 mutational spectrum. The results suggest an association between constipation and a high degree of illness burden. Awareness of this association among physicians could lead to more patients with NF1 being diagnosed with constipation. Constipation impacts on quality of life, hence a timely diagnosis and treatment will improve quality of life.

scholarly journals Life-threatening brachial artery hemorrhage and a lethal outcome in patients with neurofibromatosis type 1: two case reports and a review of the literature

2021 ◽  
Vol 49 (6) ◽  
pp. 030006052110253
Author(s):  
Jisun Lee ◽  
Yook Kim
Keyword(s):  
Brachial Artery ◽  
Neurofibromatosis Type 1 ◽  
Case Reports ◽  
Neurofibromatosis Type ◽  
Multisystem Involvement ◽  
Dominant Disease ◽  
Life Threatening ◽  
Uncontrolled Bleeding

Neurofibromatosis type 1 (NF1) is an autosomal dominant disease characterized by neuorocutaneous lesions and multisystem involvement. Other notable features of NF1 include vasculopathy in the form of stenosis, occlusion, aneurysm, pseudoaneurysm, arteriovenous deformity, and rupture, which are difficult to manage and can have fatal outcomes. We describe two cases of extensive and progressive brachial artery hemorrhage following blunt trauma in patients with NF1. Management of these patients included combined endovascular and surgical treatment based on the patients’ condition. The patients had a poor prognosis because of uncontrolled bleeding. While one patient died, the other survived, but the involved arm was amputated. Endovascular treatment is a widely used, popular, minimally invasive, and safe method to control the bleeding associated with NF1. However, this treatment can be challenging at times. Close collaboration between an interventional radiologist and surgeon is necessary for optimal treatment and careful follow-up for this condition.

scholarly journals Neurofibromatosis Type 1 and Polydactyly

2018 ◽  
Vol 1 (1-3) ◽  
pp. 42-49
Author(s):  
Abby Lauren D’Angelo ◽  
Ellyn Farrelly ◽  
David A. Stevenson
Keyword(s):  
General Population ◽  
Musculoskeletal System ◽  
Neurofibromatosis Type 1 ◽  
Case Reports ◽  
Neurofibromatosis Type ◽  
Research Database ◽  
Potential Mechanism ◽  
Postaxial Polydactyly ◽  
Neurocutaneous Disorder

Neurofibromatosis type 1 (NF1) is a neurocutaneous disorder that can impact the musculoskeletal system. Polydactyly is not a commonly reported skeletal feature in NF1, but the presence of several case reports in the literature raises the question of an association. We report an individual with bilateral postaxial polydactyly of the feet diagnosed with NF1. To investigate whether these findings are coincidental or nonrandom, the prevalence of polydactyly in an NF1 research database and in other reported NF1 cohorts were compared to the prevalence of polydactyly in the general population. The previously documented cases of individuals with NF1 and polydactyly certainly provoke the question of a nonrandom association between these two findings. However, there are conflicting data from the previous reports that looked at the frequency of polydactyly in NF1 populations, and the data from our database point to a coincidental association rather than a nonrandom association. While several reports have suggested a potential mechanism for the co-occurrence of polydactyly and NF1, a concrete association is still not yet well supported and caution should be used in attributing polydactyly to NF1.

Multiple sclerosis and neurofibromatosis type 1: report of seven patients from Iran

2009 ◽  
Vol 15 (9) ◽  
pp. 1126-1130 ◽  
Author(s):  
M Etemadifar ◽  
F Fatehi ◽  
MA Sahraian ◽  
A Borhanihaghighi ◽  
PM Ardestani ◽  
...  
Keyword(s):  
Multiple Sclerosis ◽  
Neurofibromatosis Type 1 ◽  
Case Reports ◽  
Neurofibromatosis Type ◽  
Presenting Symptoms ◽  
Secondary Progressive ◽  
Relapsing Remitting ◽  
History Of ◽  
Casual Relationship

Introduction Co-occurrence of multiple sclerosis (MS) and neurofibromatosis type 1 (NF1) is rare. Case reports In this study, we describe the clinical and neuroimaging features of seven patients with NF1 and MS. In our patients, six patients with MS were women, in all of them history of NF1 existed. Three of our patients had primary progressive, one had secondary progressive MS, and three relapsing–remitting MS. Optic neuritis as presenting symptoms was seen in three patients, and motor manifestation as presenting symptom was observed in three patients. The risk of having both NF1 and MS seemed to be higher than would be expected based on the prevalence rates of the two diseases in the general population. Conclusion The findings of this study suggest a possible casual relationship between MS and NF1, indicating higher risk of MS among patients with NF1.

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