Gastrointestinal Neurofibromatosis: An Unusual Cause of Gastric Outlet Obstruction

2005 ◽  
Vol 71 (2) ◽  
pp. 100-105 ◽  
Author(s):  
Jennifer R. Bakker ◽  
Marian M. Haber ◽  
Fernando U. Garcia
Keyword(s):  
Gastric Outlet Obstruction ◽  
Autosomal Dominant ◽  
Outlet Obstruction ◽  
Neurofibromatosis Type ◽  
Gastrointestinal Neoplasms ◽  
First Case ◽  
Gi Symptoms ◽  
Dominant Condition ◽  
Von Recklinghausen

Neurofibromatosis type-1 (NF-1), also known as von Recklinghausen disease, is a common autosomal dominant condition occurring in approximately 1/3000 births. NF-1 is known to be associated with gastrointestinal neoplasms in 2–25 per cent of patients. We report the first case of gastric outlet obstruction with perforation caused by neurofibroma in a patient with NF-1. The literature is reviewed, examining 61 previously reported cases of noncarcinoid gastrointestinal (GI) neoplasms in patients with NF-1 for symptoms, location, and types of neoplasms. Neoplasms were located most often in the small intestine (72%). Neurofibromas, found in 52 per cent of patients, were the most frequently diagnosed benign neoplasms followed by leiomyomas (13%), ganglioneurofibromas (9.8%), and gastrointestinal stomal tumor (GIST) (6.5%). Adenocarcinoma was present in 23 per cent of patients. Patients with NF-1 and GI symptoms are at risk for gastrointestinal neoplasms from which symptomatic patients are likely to experience significant morbidity.

scholarly journals Desquamative interstitial pneumonia in a non-smoker with neurofibromatosis type 1 (Von Recklinghausen syndrome)

2020 ◽  
Vol 13 (1) ◽  
pp. e227379
Author(s):  
Gustavo Ferrer ◽  
Alwiya Omar Saleh ◽  
Henry D Tazelaar ◽  
Andrea V Arrossi
Keyword(s):  
Interstitial Pneumonia ◽  
Neurofibromatosis Type 1 ◽  
Autosomal Dominant ◽  
Interstitial Fibrosis ◽  
Neurofibromatosis Type ◽  
Pulmonary Involvement ◽  
Autosomal Dominant Disorder ◽  
Systemic Manifestations ◽  
Von Recklinghausen

Neurofibromatosis type 1 (NF1) is an autosomal dominant disorder with multiple systemic manifestations. Pulmonary involvement has been reported in the form of interstitial fibrosis, emphysema, pulmonary hypertension and thoracic neoplasm. We report a case of desquamative interstitial pneumonia in a non-smoker with NF1.

scholarly journals Gastric Outlet Obstruction due to Submucosal Neurofibromatous Proliferation of Duodenal Bulb in Neurofibromatosis Type 1 Patient

2010 ◽  
Vol 79 (Suppl 1) ◽  
pp. S31 ◽  
Author(s):  
Byung Sun Suh ◽  
Dong Woo Shin ◽  
Jung Seob Lee ◽  
Se Young Kim ◽  
Eun Mee Han ◽  
...  
Keyword(s):  
Gastric Outlet Obstruction ◽  
Neurofibromatosis Type 1 ◽  
Duodenal Bulb ◽  
Outlet Obstruction ◽  
Neurofibromatosis Type

scholarly journals Diffuse neurofibroma of the chest and abdominal wall invading the diaphragm leads to diaphragmatic eventration: case report

BMC Surgery ◽  
2021 ◽  
Vol 21 (1) ◽  
Author(s):  
Xian-shuai Li ◽  
Shu-qian He ◽  
Xian-guo Chen
Keyword(s):  
Autosomal Dominant ◽  
Neurofibromatosis Type ◽  
High Rate ◽  
Biological Behavior ◽  
New Mutation ◽  
Case Presentation ◽  
Variable Expression ◽  
Diaphragmatic Eventration ◽  
Dominant Condition

Abstract Background Neurofibromatosis type 1 (NF1) is an autosomal dominant condition with a high rate of new mutation and variable expression. Diffuse neurofibroma of the epidermis invading deeper organs is rare.We report a case of diffuse subcutaneous neurofibroma in the thoracoabdominal wall which had invaded the diaphragm and caused diaphragmatic eventration. Case presentation We describe a patient with diffuse neurofibroma of the chest and abdomen who was admitted to the hospital due to sudden abdominal pain and a possible diaphragmatic hernia. We performed thoracotomy and found that the neurofibroma had invaded the diaphragm and caused diaphragmatic eventration. Conclusions This occurrence has not been reported, and it shows that although neurofibromatosis is a benign disease, it still has the biological behavior of a malignant tumor and may cause a serious impact on and damage to other organs.

scholarly journals The Rare Togetherness of Bladder Leiomyoma and Neurofibromatosis

2018 ◽  
Vol 2018 ◽  
pp. 1-3
Author(s):  
Cem Yucel ◽  
Salih Budak ◽  
Erdem Kisa ◽  
Orcun Celik ◽  
Zafer Kozacioglu
Keyword(s):  
Neurofibromatosis Type 1 ◽  
Autosomal Dominant ◽  
Rare Condition ◽  
Neurofibromatosis Type ◽  
Urinary System ◽  
Von Recklinghausen Disease ◽  
Recklinghausen Disease ◽  
Bladder Leiomyoma ◽  
Von Recklinghausen

Neurofibromatosis Type 1 (Von Recklinghausen disease) is a common, autosomal dominant hereditary disorder characterized by involvement of multiple tissues derived from the neural crest. Urinary system involvement in neurofibromatosis is a rare condition. Leiomyoma of the bladder is a rare benign mesenchymal tumor. In this case, our experience and approach regarding the bladder leiomyoma development in a patient diagnosed with neurofibromatosis are presented and the literature data has been reviewed.

Neurofibromatosis type 1 with subarachnoid haemorrhage from the left vertebral arteriovenous fistula: case presentation and literature review

2021 ◽  
Vol 14 (2) ◽  
pp. e239880
Author(s):  
Toshinori Nishizawa ◽  
Takahiro Tsuchiya ◽  
Yoshihiro Terasawa ◽  
Yasuhiro Osugi
Keyword(s):  
Neck Pain ◽  
Subarachnoid Haemorrhage ◽  
Arteriovenous Fistula ◽  
Neurofibromatosis Type 1 ◽  
Epidural Haematoma ◽  
Neurofibromatosis Type ◽  
Sudden Onset ◽  
Vertebral Arteriovenous Fistula ◽  
First Case

We present the case of a 47-year-old woman with neurofibromatosis type 1 (NF1) with subarachnoid haemorrhage (SAH) from the left vertebral arteriovenous fistula, along with a review of previous cases. Our patient had a family history of NF1 and presented to the emergency department with a sudden-onset severe headache and neck pain. CT scan showed SAH. CT angiography revealed a left vertebral arteriovenous fistula and an epidural haematoma. She underwent direct surgery and was discharged without neurologic deficits. To our knowledge, this is the first case of SAH caused by perimedullary drainage of a vertebral arteriovenous fistula associated with NF1. In a literature search, we identified 40 cases of vertebral arteriovenous fistula associated with NF1. The majority of vertebral arteriovenous fistulas occurred on the left side and in women. Patients with vertebral arteriovenous fistula typically experience neck pain, radiculopathy, radiculomyelopathy and bruits.

scholarly journals An Update on Neurofibromatosis Type 1-Associated Gliomas

Cancers ◽  
2020 ◽  
Vol 12 (1) ◽  
pp. 114 ◽  
Author(s):  
Lobbous ◽  
Bernstock ◽  
Coffee ◽  
Friedman ◽  
Metrock ◽  
...  
Keyword(s):  
Central Nervous System ◽  
Nervous System ◽  
Neurofibromatosis Type 1 ◽  
Autosomal Dominant ◽  
Neurofibromatosis Type ◽  
Central Nervous System Neoplasms ◽  
Therapeutic Landscape ◽  
Nervous System Neoplasms ◽  
Collaborative Efforts

Neurofibromatosis type 1 (NF1) is an autosomal dominant tumor predisposition syndrome that affects children and adults. Individuals with NF1 are at high risk for central nervous system neoplasms including gliomas. The purpose of this review is to discuss the spectrum of intracranial gliomas arising in individuals with NF1 with a focus on recent preclinical and clinical data. In this review, possible mechanisms of gliomagenesis are discussed, including the contribution of different signaling pathways and tumor microenvironment. Furthermore, we discuss the recent notable advances in the developing therapeutic landscape for NF1-associated gliomas including clinical trials and collaborative efforts.

scholarly journals A case report and review of the literature of Bouveret syndrome

2020 ◽  
Vol 102 (1) ◽  
pp. e15-e19 ◽  
Author(s):  
G Singh ◽  
N Merali ◽  
S Shirol ◽  
P Drymousis ◽  
S Singh ◽  
...  
Keyword(s):  
Case Report ◽  
Surgical Treatment ◽  
Rare Variant ◽  
Gastric Outlet Obstruction ◽  
Gallstone Ileus ◽  
Outlet Obstruction ◽  
Review Of The Literature ◽  
First Case ◽  
Bouveret Syndrome

Bouveret syndrome is a rare variant of gallstone ileus causing gastric outlet obstruction. It results from the formation of either a cholecystoduodenal or a cholecystogastric fistula and subsequent migration of gallstone into the duodenum or pylorus of stomach, causing obstruction. The first case was reported by Leon Bouveret in 1896. We report a case illustrating the rarity and severity of this condition, together with a review of the literature of the different methods of endoscopic and surgical treatment.

Spontaneous Rupture of Multiple Occipital Artery Aneurysms in a Patient With Neurofibromatosis Type 1

2017 ◽  
Vol 52 (1) ◽  
pp. 86-88 ◽  
Author(s):  
Daniele Bissacco ◽  
Maurizio Domanin ◽  
Silvia Romagnoli ◽  
Edoardo Martelli ◽  
Vittorio Civelli ◽  
...  
Keyword(s):  
Nervous System ◽  
Neurofibromatosis Type 1 ◽  
Spontaneous Rupture ◽  
Autosomal Dominant ◽  
Genetic Disorder ◽  
Neurofibromatosis Type ◽  
Occipital Artery ◽  
Endovascular Approach ◽  
Spontaneous Hematoma

Neurofibromatosis type 1 (NF-1) is an autosomal dominant genetic disorder, mainly characterized by skin and peripheral nervous system abnormalities. Uncommonly, NF-1 may be associated with peripheral or supra-aortic trunks artery aneurysms. We report a case of symptomatic multiple occipital artery aneurysms detected in a 53-year-old woman affected by sporadic NF-1. An endovascular approach was performed to exclude aneurysms and to stop laterocervical spontaneous hematoma.

scholarly journals Moyamoya syndrome associated with neurofibromatosis type I in a pediatric patient

2011 ◽  
Vol 129 (2) ◽  
pp. 110-112 ◽  
Author(s):  
Luiz Guilherme Darrigo Júnior ◽  
Elvis Terci Valera ◽  
André de Aboim Machado ◽  
Antonio Carlos dos Santos ◽  
Carlos Alberto Scrideli ◽  
...  
Keyword(s):  
Moyamoya Disease ◽  
Autosomal Dominant ◽  
Genetic Disorder ◽  
Neurofibromatosis Type ◽  
Type I ◽  
Moyamoya Syndrome ◽  
Radiological Findings ◽  
Convulsive Seizures ◽  
Age Range

CONTEXT: Neurofibromatosis type 1 (NF-1) is the most prevalent autosomal dominant genetic disorder among humans. Moyamoya disease is a cerebral vasculopathy that is only rarely observed in association with NF-1, particularly in the pediatric age range. The present study reports an occurrence of this association in an infant. CASE REPORT: An eight-month-old female presented convulsive seizures with clonic movements. The patient suffered an ischemic stroke with hemiparesis. Magnetic resonance imaging revealed radiological findings compatible with moyamoya disease. The diagnosis of NF-1 was made at the age of 20 months. CONCLUSION: Despite the rarity of this association in childhood, children with focal neurological symptoms and a diagnosis of NF-1 deserve to be investigated for moyamoya syndrome.

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