scholarly journals Neurofibromatosis type 1 associated with coarctation of the abdominal aorta

2021 ◽  
Author(s):  
Reema Al Essa ◽  
Mohammed Al Jasser
Keyword(s):  
Abdominal Aorta ◽  
Neurofibromatosis Type 1 ◽  
Arteriovenous Malformations ◽  
Autosomal Dominant ◽  
Rare Complication ◽  
Genetic Disorders ◽  
Neurofibromatosis Type ◽  
Arterial Stenosis

Neurofibromatosis type 1 (NF1) is one of the most autosomal dominant genetic disorders. NF1 vasculopathy is a rare complication of NF1 with prevalence up to 6% including aneurysms, arterial stenosis, aorta coarctation and arteriovenous malformations [...]

scholarly journals Neurofibromatosis Type 1 Presenting with Plexiform Neurofibromas in Two Patients: MRI Features

2012 ◽  
Vol 2012 ◽  
pp. 1-3 ◽  
Author(s):  
Ahmet Mesrur Halefoglu
Keyword(s):  
Neurofibromatosis Type 1 ◽  
Autosomal Dominant ◽  
Genetic Disorders ◽  
Neurofibromatosis Type ◽  
Plexiform Neurofibromas ◽  
Mri Features ◽  
History Of ◽  
Magnetic Resonance Imaging Mri ◽  
Distinguishing Features

Neurofibromatosis type 1 (NF1), also known as peripheral neurofibromatosis or von Recklinghausen’s disease, is one of the most common genetic disorders. It is inherited in an autosomal dominant pattern. Multiple cutaneous neurofibromas are hallmark lesions of NF1. Localized and plexiform neurofibromas of the paraspinal and sacral region are the most common abdominal neoplasms in NF1. Herein, we report two patients with a known history of NF1 presenting with multiple, extensive localized and plexiform neurofibromas. We describe the important distinguishing features of these tumors as seen on magnetic resonance imaging (MRI), including very bright signal intensity and target sign on T2 weighted images.

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 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.

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 Dysfunctions of the Abdominal Aorta and Renal Arteries in a Mouse Model of Neurofibromatosis Type 1

2015 ◽  
Vol 29 (S1) ◽  
Author(s):  
Kimberly Jett ◽  
Harleen Chohan ◽  
Jason Cui ◽  
Jan Friedman ◽  
Cornelis Breemen ◽  
...  
Keyword(s):  
Mouse Model ◽  
Abdominal Aorta ◽  
Neurofibromatosis Type 1 ◽  
Neurofibromatosis Type ◽  
Renal Arteries

Neurofibromatosis Type 1

2017 ◽  
Author(s):  
David S. Wolf
Keyword(s):  
Learning Disabilities ◽  
Neurofibromatosis Type 1 ◽  
Autosomal Dominant ◽  
Neurofibromatosis Type ◽  
Vascular Abnormalities ◽  
Hyperactivity Disorder ◽  
Café Au Lait Spots ◽  
Lisch Nodules ◽  
Neurocutaneous Disorder

Neurofibromatosis type 1 is a common, autosomal dominant, monogenetic neurocutaneous disorder. It is characterized by café au lait spots, axillary and inguinal freckling, Lisch nodules, optic pathway gliomas, neurofibromas, and distinctive bony abnormalities. Also associated with this condition are other central nervous system tumors, scoliosis, hypertension, vascular abnormalities, and cognitive issues such as learning disabilities and attention deficit-hyperactivity disorder.

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.

scholarly journals Neurofibromatosis Type 1 Complicated by Atypical Coarctation of the Thoracic Aorta

2013 ◽  
Vol 2013 ◽  
pp. 1-4
Author(s):  
Masato Kimura ◽  
Shuhei Kakizaki ◽  
Kengo Kawano ◽  
Shinichi Sato ◽  
Shigeo Kure
Keyword(s):  
Thoracic Aorta ◽  
Neurofibromatosis Type 1 ◽  
Aortic Coarctation ◽  
Autosomal Dominant ◽  
Genetic Disorder ◽  
Neurofibromatosis Type ◽  
Lisch Nodules ◽  
Atypical Coarctation ◽  
Graft Interposition

Neurofibromatosis type 1 (NF1) is a relatively common autosomal dominant genetic disorder with a prevalence of 1 in 3,000 (0.03%) at birth. Clinical features are café-au-lait macules, intertriginous freckling, dermal neurofibroma, iris hamartoma (Lisch nodules), and learning disability. NF1 vasculopathy is a serious but underrecognized complication involving the cerebrovascular and cardiovascular systems. The incidence of hypertension in patients with NF1 is around 1% and is associated mainly with renal artery stenosis in children. Only a few cases of thoracic aortic coarctation in association with hypertension and neurofibromatosis have been reported. Here we describe the case of a 4-year-old girl who presented with NF1 and hypertension due to atypical coarctation of the thoracic aorta. The diagnosis of coarctation of the thoracic aorta at the Th5-to-Th6 level was made following catheterization with a pressure gradient of 40 mmHg. The patient underwent surgery comprising resection of the coarctation of the thoracic aorta and graft interposition. On the basis of our findings, annual assessment of blood pressure is advised for patients with NF1.

scholarly journals Spontaneous hemothorax: A rare lethal pulmonary complication of neurofibromatosis type 1

2021 ◽  
pp. 433-435
Author(s):  
Aditya Nath Shukla ◽  
Ashok Kumar Singh ◽  
Saket Nigam
Keyword(s):  
Hemorrhagic Shock ◽  
Neurofibromatosis Type 1 ◽  
Autosomal Dominant ◽  
Pulmonary Complication ◽  
Neurofibromatosis Type ◽  
Autosomal Dominant Disease ◽  
Spontaneous Hemothorax ◽  
Dominant Disease ◽  
Abnormal Pigmentation

Neurofibromatosis 1 (NF1), also called von Recklinghausen’s disease, is an autosomal dominant disease characterized by multiple non-cancerous tumors of nerves and skin, and areas of abnormal pigmentation. Vasculopathy and spontaneous hemothorax are rare complications, but potentially lethal, which necessitates quick and decisive intervention to save the life of the patient. Here, we present a case of spontaneous massive haemothorax leading to hemorrhagic shock in a 66-year-old woman with neurofibromatosis type-1. She was investigated and managed successfully.

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