scholarly journals Neurofibromatosis Type 1 with Bladder Involvement

2013 ◽  
Vol 2013 ◽  
pp. 1-3
Author(s):  
Iyimser Üre ◽  
Serhat Gürocak ◽  
Ipek Isik Gönül ◽  
Sinan Sözen ◽  
Nuri Deniz
Keyword(s):  
Neurofibromatosis Type 1 ◽  
Autosomal Dominant ◽  
Clinical Presentation ◽  
Treatment Options ◽  
Transmitted Disease ◽  
Clinical Manifestations ◽  
Neurofibromatosis Type ◽  
Benign Disease ◽  
Genitourinary System

Neurofibromatosis type 1 is an autosomal dominant transmitted disease with various clinical manifestations. The bladder is the most commonly affected organ in the genitourinary system. The malignant transformation of the disease is rare, and unlike malign tumors, the treatment option for benign disease is usually conservative. The size and localization of the mass determine the symptoms, most of which are usually not specific. In this paper, we aim to present a 15-year-old patient with neurofibromatosis type 1 with bladder involvement. The clinical presentation and treatment options of this disease are discussed in the light of the literature.

scholarly journals Legius Syndrome in a 13 Month Old Boy: A Case Report

2017 ◽  
Vol 2 (1) ◽  
Keyword(s):  
Learning Disabilities ◽  
Case Report ◽  
Developmental Delay ◽  
Neurofibromatosis Type 1 ◽  
Autosomal Dominant ◽  
Clinical Manifestations ◽  
Neurofibromatosis Type ◽  
Café Au Lait Spots ◽  
Legius Syndrome

Legius syndrome is autosomal dominant and caused by mutations in the SPRED1 gene. Clinical manifestations include multiple cafe-au-lait spots, axillary/ inguinal freckling and a degree of macrocephaly, without the non-pigmentary signs of neurofibromatosis type 1 (NF1). Learning disabilities, developmental delay and ADHD are also known.

scholarly journals Cutaneous Neurofibroma of the Lacrimal Caruncule: A Case Report

2017 ◽  
Vol 8 (2) ◽  
pp. 358-361
Author(s):  
Mario Motta ◽  
Mauro Geller ◽  
Cesar Motta
Keyword(s):  
Case Report ◽  
General Anesthesia ◽  
Female Patient ◽  
Neurofibromatosis Type 1 ◽  
Genetic Disease ◽  
Autosomal Dominant ◽  
Clinical Manifestations ◽  
Neurofibromatosis Type ◽  
Histopathological Analysis

We describe the case of a neurofibroma on the lacrimal caruncle of a female patient with neurofibromatosis type 1 (NF1). NF1 is an autosomal dominant genetic disease with a wide variety of clinical manifestations, one of the most common of which is neurofibroma. The lesion was removed surgically under general anesthesia and sent to histopathological analysis, which confirmed the clinical diagnosis of a neurofibroma.

scholarly journals Pharmacological Approaches in Neurofibromatosis Type 1-Associated Nervous System Tumors

Cancers ◽  
2021 ◽  
Vol 13 (15) ◽  
pp. 3880
Author(s):  
Omar Rabab’h ◽  
Abeer Gharaibeh ◽  
Ali Al-Ramadan ◽  
Manar Ismail ◽  
Jawad Shah
Keyword(s):  
Neurofibromatosis Type 1 ◽  
Genetic Disease ◽  
Autosomal Dominant ◽  
Treatment Options ◽  
Neurofibromatosis Type ◽  
Pharmacological Interventions ◽  
Nervous System Tumors ◽  
The Usa ◽  
Underlying Pathogenesis

Neurofibromatosis type 1 is an autosomal dominant genetic disease and a common tumor predisposition syndrome that affects 1 in 3000 to 4000 patients in the USA. Although studies have been conducted to better understand and manage this disease, the underlying pathogenesis of neurofibromatosis type 1 has not been completely elucidated, and this disease is still associated with significant morbidity and mortality. Treatment options are limited to surgery with chemotherapy for tumors in cases of malignant transformation. In this review, we summarize the advances in the development of targeted pharmacological interventions for neurofibromatosis type 1 and related conditions.

NEUROFIBROMATOSIS TYPE 1 SYNDROME: TWO CASES WITH DIFFERENT CLINICAL MANIFESTATIONS

2017 ◽  
Vol 124 (2) ◽  
pp. e71
Author(s):  
DIRCEU VIRGOLINO DE OLIVEIRA ◽  
VALBER BARBOSA MARTINS ◽  
MARCELO VINICIUS DE OLIVEIRA ◽  
GUSTAVO CAVALCANTI DE ALBUQUERQUE ◽  
JOEL MOTTA JUNIOR ◽  
...  
Keyword(s):  
Neurofibromatosis Type 1 ◽  
Clinical Manifestations ◽  
Neurofibromatosis Type

scholarly journals Clinical manifestations of neurofibromatosis type 1

2014 ◽  
Author(s):  
Anna Dabrowska ◽  
Agnieszka Zwolak ◽  
Maria Kurowska ◽  
Jerzy Tarach
Keyword(s):  
Neurofibromatosis Type 1 ◽  
Clinical Manifestations ◽  
Neurofibromatosis Type

scholarly journals Adrenal incidentaloma in neurofibromatosis type 1

2008 ◽  
Vol 136 (5-6) ◽  
pp. 295-298
Author(s):  
Milina Tancic-Gajic ◽  
Svetlana Vujovic ◽  
Svetislav Tatic ◽  
Milos Stojanovic ◽  
Miomira Ivovic ◽  
...  
Keyword(s):  
Neurofibromatosis Type 1 ◽  
Plexiform Neurofibroma ◽  
Fatal Outcome ◽  
Clinical Manifestations ◽  
Adrenal Incidentaloma ◽  
Neurofibromatosis Type ◽  
Clinical Criteria ◽  
Abdominal Magnetic Resonance Imaging ◽  
Rare Tumours

INTRODUCTION Neurofibromatosis type 1 is one of the most common genetically transmitted diseases with a high index of spontaneous mutations and extremely varied and unpredictable clinical manifestations. It is diagnosed by the existence of certain clinical criteria. The presence of numerous localised cutaneous neurofibromas or a plexiform neurofibroma is virtually pathognomonic of neurofibromatosis type 1. The incidence of pheochromocytoma in neurofibromatosis type 1 is 0.1-5.7%. CASE OUTLINE A 56-year old female patient was admitted for further evaluation of incidental adrenal tumour previously diagnosed on computerized tomography (CT). She had previously unrecognized neurofibromatosis type 1 and a clinical picture which could remind of pheochromocytoma. None of the catecholamine samples in 24 hr urine indicated functionally active pheochromocytoma. Chromogranin A was moderately increased. Decision for operation was made after performing the image techniques. Adrenal incidentaloma had features of pheochromocytoma on abdominal magnetic resonance imaging (MRI), with positive 131I-MIBG (iodine 131-labelled metaiodobenzylguanidine scintigraphy). After being treated with phenoxybenzamine and propranolol, she was operated on. The pathohistological finding showed the case of left adrenal pheochromocytoma. CONCLUSION Detailed diagnostic procedure for pheochromocytoma should be performed with patients having neurofibromatosis type 1 and adrenal incidentaloma. Pheochromocytomas are rare tumours with fatal outcome if not duly recognized and cured.

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.

ROSETTE-FORMING GLIONEURONAL TUMOR: REPORT OF A CHIASMAL-OPTIC NERVE EXAMPLE IN NEUROFIBROMATOSIS TYPE 1

Neurosurgery ◽  
2009 ◽  
Vol 64 (4) ◽  
pp. E771-E772 ◽  
Author(s):  
Bernd W. Scheithauer ◽  
Ana I. Silva ◽  
Rhett P. Ketterling ◽  
J. H. Pula ◽  
James F. Lininger ◽  
...  
Keyword(s):  
Neurofibromatosis Type 1 ◽  
Fluorescent In Situ Hybridization ◽  
Clinical Presentation ◽  
Neurofibromatosis Type ◽  
Large Deletion ◽  
Glioneuronal Tumor ◽  
Genetic Abnormality ◽  
Neoplastic Tissue

Abstract OBJECTIVE Rosette-forming glioneuronal tumor is a rare, rather recently described tumor featuring a highly distinctive, biphasic histological pattern, including a cytologically uniform neuronal component of Homer-Wright type pseudorosettes and an accompanying astrocytic element resembling pilocytic astrocytoma. Its occurrence in the posterior fossa and association with the fourth ventricle is stereotypical and a feature of all reported cases. CLINICAL PRESENTATION In this article, we describe the first rosette-forming glioneuronal tumor arising outside this site, a histologically classic example involving the anterior visual pathway and associated with neurofibromatosis type 1. INTERVENTION Genetic (fluorescent in situ hybridization) studies demonstrated no large deletion in either normal or neoplastic tissue, indicating that the genetic abnormality underlying neurofibromatosis type 1 in this patient is likely a very small deletion or point mutation. CONCLUSION The relation of the tumor to the underlying neurofibromatosis type 1 cannot be assessed.

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