scholarly journals Pulmonary hypertension associated with neurofibromatosis type 1

2018 ◽  
Vol 27 (149) ◽  
pp. 180053 ◽  
Author(s):  
Etienne-Marie Jutant ◽  
Barbara Girerd ◽  
Xavier Jaïs ◽  
Laurent Savale ◽  
Caroline O'Connell ◽  
...  
Keyword(s):  
Pulmonary Hypertension ◽  
Lung Disease ◽  
Neurofibromatosis Type 1 ◽  
Genetic Disorder ◽  
Neurofibromatosis Type ◽  
Pulmonary Vascular Disease ◽  
Increased Risk ◽  
Parenchymal Lung Disease ◽  
Parenchymal Lung

Neurofibromatosis type 1 (NF1), also known as von Recklinghausen disease, is a frequent autosomal dominant genetic disorder with a prevalence of 1 in 3000. Pulmonary hypertension (PH) associated with NF1 (PH-NF1) is a rare but severe complication of NF1 and is classified as Group 5 PH, defined as “PH with unclear and/or multifactorial mechanisms”. A literature review in PubMed on the association between NF1 and PH identified 18 articles describing 31 cases. PH-NF1 was characterised by a female predominance, an advanced age at diagnosis, an association with parenchymal lung disease in two out of three cases and poor long-term prognosis. NF1 is generally associated with interstitial lung disease but some cases of severe PH without parenchymal lung disease suggest that there could be a specific pulmonary vascular disease. There is no data available on the efficacy of specific pulmonary arterial hypertension treatment in PH-NF1. Therefore, these patients should be evaluated in expert PH centres and referred for lung transplantation at an early stage. As these patients have an increased risk of malignancy, careful assessment of the post-transplant malignancy risk prior to listing for transplantation is necessary. Clinical trials are needed to evaluate promising treatments targeting the RAS-downstream signalling pathways.

scholarly journals Lung cancer and parenchymal lung disease in a patient with neurofibromatosis type 1

2019 ◽  
Vol 45 (3) ◽  
Author(s):  
Alessandro Severo Alves de Melo ◽  
Sérgio Ferreira Alves Jr ◽  
Paulo de Moraes Antunes ◽  
Gláucia Zanetti ◽  
Edson Marchiori
Keyword(s):  
Lung Cancer ◽  
Lung Disease ◽  
Neurofibromatosis Type 1 ◽  
Neurofibromatosis Type ◽  
Parenchymal Lung Disease ◽  
Parenchymal Lung

scholarly journals Lower DLco% identifies exercise pulmonary hypertension in patients with parenchymal lung disease referred for dyspnea

2020 ◽  
Vol 10 (1) ◽  
pp. 204589401989191 ◽  
Author(s):  
Richard H. Zou ◽  
William D. Wallace ◽  
S. Mehdi Nouraie ◽  
Stephen Y. Chan ◽  
Michael G. Risbano
Keyword(s):  
Pulmonary Hypertension ◽  
Lung Disease ◽  
Vascular Disease ◽  
Pulmonary Function Tests ◽  
Pulmonary Vascular Disease ◽  
Chronic Obstructive ◽  
Exertional Dyspnea ◽  
Pulmonary Arterial ◽  
Parenchymal Lung Disease ◽  
Parenchymal Lung

Exercise pulmonary hypertension is an underappreciated form of physical limitation related to early pulmonary vascular disease. A low diffusing capacity of lungs for carbon monoxide (DLco) can be seen in patients with resting pulmonary hypertension as well as parenchymal lung disease. It remains unclear whether low DLco% identifies early pulmonary vascular disease. We hypothesize that a reduced DLco% differentiates the presence of exercise pulmonary hypertension in patients with parenchymal lung disease. Fifty-six patients referred for unexplained exertional dyspnea with pulmonary function tests within six months of hemodynamic testing underwent exercise right heart catheterization. Exclusion criteria included resting pulmonary arterial or venous hypertension. Receiver operator characteristic curve determined the optimal DLco% cutoffs based on the presence or absence of parenchymal lung disease. Twenty-one (37%) patients had parenchymal lung disease, most common manifesting as chronic obstructive lung disease or interstitial lung disease. In patients with parenchymal lung disease, a DLco of 46% demonstrated 100% sensitivity and 73% specificity for detecting exercise pulmonary hypertension. In patients without parenchymal lung disease, a DLco of 73% demonstrated 58% sensitivity and 94% specificity for detecting exercise pulmonary hypertension. In both cohorts, DLco% below the optimum cutoffs were associated with higher peak mean pulmonary arterial pressure and peak total pulmonary resistance consistent with the hemodynamic definition of exercise pulmonary hypertension. Patients with a DLco < 46% were more often treated with pulmonary vasodilators and had a trend to higher mortality and lung transplant. DLco% is a simple non-invasive screening test for the presence of exercise pulmonary hypertension in our mixed referral population with progressive exertional dyspnea. DLco < 46% with parenchymal lung disease and DLco < 73% without parenchymal lung disease may play a role in differentiating the presence of pulmonary vascular disease prior to invasive hemodynamic testing.

scholarly journals Spontaneous pneumothorax as a clinical manifestation of neurofibromatosis type 1

2021 ◽  
Vol 14 (3) ◽  
pp. e238694
Author(s):  
Tine Lorentzen ◽  
Hanne Madsen ◽  
Marie Josée Zareh Lausten-Thomsen ◽  
Anette Bygum
Keyword(s):  
Nervous System ◽  
Clinical Manifestation ◽  
Neurofibromatosis Type 1 ◽  
Spontaneous Pneumothorax ◽  
Genetic Disorder ◽  
Neurofibromatosis Type ◽  
Pulmonary Involvement ◽  
Secondary Spontaneous Pneumothorax ◽  
Increased Risk

Neurofibromatosis type 1 (NF1) is a genetic disorder affecting the skin, nervous system, eyes and bones. Pulmonary involvement is unknown to many physicians. Yet, patients may be affected by lung bullae and cysts, which represent an increased risk for secondary spontaneous pneumothorax (SSP). We present a 56-year-old patient with a pathogenic variant of the NF1 gene, who suffered from NF1 with lung manifestations and recurrent SSP. It is essential to identify the patients having an increased risk of developing SSP as preventive surgery seem to decrease the risk of new events. Pneumothorax can be a clinical manifestation of NF1 but is not yet widely acknowledged as such.

scholarly journals Cerebellar glioblastoma multiforme in an adult patient with neurofibromatosis type 1: an extremely rare report with review of literature

2019 ◽  
Vol 55 (1) ◽  
Author(s):  
Nima Derakhshan ◽  
Nazanin Azadeh ◽  
Arash Saffarian ◽  
Mousa Taghipour ◽  
Keyvan Eghbal ◽  
...  
Keyword(s):  
Glioblastoma Multiforme ◽  
Neurofibromatosis Type 1 ◽  
Genetic Disorder ◽  
High Grade Glioma ◽  
Neurofibromatosis Type ◽  
Pathology Report ◽  
Low Grade ◽  
Cerebellar Glioblastoma ◽  
Increased Risk

Abstract Background Neurofibromatosis type 1 (NF1) is a multisystem genetic disorder with autosomal dominant inheritance which predisposes the affected individuals to increased risk of developing certain benign and malignant central nervous system (CNS) tumors. NF1 patients are most notably prone to develop low-grade optic pathway, brainstem, and cerebellar astrocytoma. Current literature suggests that brain tumors in patients with NF1 tend to be less aggressive compared to sporadic ones. Glioblastoma multiforme (GBM) is a high-grade glioma which is relatively rare in patients with NF1 and is most commonly seen in supratentorial regions of the brain. Case presentation A 33-year-old patient was admitted in neurosurgery ward with acute hydrocephalus caused by a cerebellar mass lesion. On primary assessment, the patient was diagnosed with NF1. He was followed for 2 months and underwent surgical resection of the mass due to worsening symptoms. The pathology report revealed the malignant nature of the lesion. Patient received adjuvant chemo-radiotherapy with diagnosis of cerebellar GBM. Up to 19 months following surgery, he had gained a relatively well ability to walk and talk again.

scholarly journals Bullous lung disease and neurofibromatosis type-1

2015 ◽  
Vol 77 (2) ◽  
Author(s):  
E. Nardecchia ◽  
L. Perfetti ◽  
M. Castiglioni ◽  
D. Di Natale ◽  
A. Imperatori ◽  
...  
Keyword(s):  
Lung Disease ◽  
Young Patient ◽  
Neurofibromatosis Type 1 ◽  
Autosomal Dominant ◽  
Genetic Disorder ◽  
Neurofibromatosis Type ◽  
Dominant Trait ◽  
Autosomal Dominant Trait ◽  
Thoracoscopic Resection

Lung interstitial diseases and bullae are described as possible complications of neurofibromatosis type-1 (NF-1), a genetic disorder inherited as a autosomal-dominant trait. We report the case of a 16-year-old male non-smoker with NF-1, who presented with pneumothorax caused by ruptured lung bullae. The case of this young patient, successfully treated by video-assisted thoracoscopic resection of bullae, supports the concept that pulmonary alterations may be part of the NF-1 syndrome, rather than as an unrelated complication.

scholarly journals Interstitial lung disease and pre-capillary pulmonary hypertension in neurofibromatosis type 1

2018 ◽  
Vol 24 ◽  
pp. 8-11
Author(s):  
Daniela Rodrigues ◽  
Hugo Oliveira ◽  
Carina Andrade ◽  
Luísa Carvalho ◽  
Susana Guimarães ◽  
...  
Keyword(s):  
Pulmonary Hypertension ◽  
Interstitial Lung Disease ◽  
Lung Disease ◽  
Neurofibromatosis Type 1 ◽  
Neurofibromatosis Type

Isolated premature menarche in two siblings with Neurofibromatosis type 1

2020 ◽  
Vol 33 (6) ◽  
pp. 813-816
Author(s):  
James Blackburn ◽  
Mohammed Didi ◽  
Shivaram Avula ◽  
Senthil Senniappan
Keyword(s):  
Neurofibromatosis Type 1 ◽  
Pubertal Timing ◽  
Genetic Disorder ◽  
Pubertal Development ◽  
Neurofibromatosis Type ◽  
Malignant Tumours ◽  
Peripheral Tissues ◽  
Paediatric Endocrinology ◽  
The Central Nervous System

AbstractObjectivesNeurofibromatosis type 1 (NF1) is an autosomal dominant genetic disorder, caused by mutation in NF1. The condition is typified by the development of benign and malignant tumours in both the central nervous system and peripheral tissues. Isolated menarche is a sub-classification of incomplete isosexual precocious puberty typified by menarche in girls with no other features of pubertal development. The effects of NF1 on pubertal timing are poorly understood, we report two siblings with NF1 and apparent abnormal pubertal development.Case PresentationTwo siblings were referred to the tertiary paediatric endocrinology clinic at 6 and 7 years of age with recurrent, cyclical vaginal bleeding. There was a strong family history of NF1, the mother of the siblings and two brothers were also diagnosed at a young age. On examination both patients were prepubertal at presentation. Both siblings underwent a gonadotrophin releasing hormone test, which revealed a follicle-stimulating hormone dominant (prepubertal) response. The features were suggestive of isolated premature menarche as no other cause was identified. The elder sibling established menarche and developed signs of consonant pubertal development at 12 years of age. The younger sibling remains under regular follow-up.ConclusionsNF1 has previously been associated with alterations in pubertal timing. We report, for the first time, two siblings with NF1 who presented with isolated menarche.

scholarly journals Pathological fracture of non-ossifying fibroma associated with neurofibromatosis type 1

2019 ◽  
Vol 12 (7) ◽  
pp. e228170 ◽  
Author(s):  
James Ritchie Gill ◽  
Tamer Magid EL Nakhal ◽  
Soo-Mi Park ◽  
Mariusz Chomicki
Keyword(s):  
Clinical Features ◽  
Neurofibromatosis Type 1 ◽  
Pathological Fracture ◽  
Neurofibromatosis Type ◽  
Ossifying Fibroma ◽  
Pathological Fractures ◽  
Cast Immobilisation ◽  
Increased Risk ◽  
Operative Fixation

We report the management of a pathological fracture through a proximal tibial non-ossifying fibroma (NOF) in a 13-year-old girl with neurofibromatosis type 1 (NF1). The fracture was minimally displaced, and the lesion had clinical features of a NOF, and therefore biopsy was not required. Operative fixation has been the preferred method of treatment for pathological fractures through NOF associated with NF1. Multiple NOFs associated with NF1 are rare but can coalesce resulting in large lesions with an increased risk of pathological fracture. In cases which permit, non-operative treatment with cast immobilisation can yield satisfactory results.

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 Endocrine Dysfunction in Neurofibromatosis Type 1 – An Update

2016 ◽  
Vol 62 (1) ◽  
pp. 155-158
Author(s):  
Raluca-Monica Pop ◽  
Radu Mircea Neagoe ◽  
Melinda Kolcsar ◽  
Ionela Paşcanu
Keyword(s):  
Neurofibromatosis Type 1 ◽  
Genetic Disorder ◽  
Parathyroid Tissue ◽  
Neurofibromatosis Type ◽  
Needle Aspiration ◽  
Autosomal Dominant Disorder ◽  
Thyroid Lesion ◽  
Neurogenic Tumors ◽  
Multiple Neoplasms

AbstractBackground: Neurofibromatosis type 1 is an autosomal dominant disorder associated with multiple neoplasms particularly those of ectodermal origin. Various endocrine pathologies are often present, among them, hyperparathyroidism and follicular thyroid lesion are very rare described and their coincidence in the same patient has not been described in the literature reviewed.Subject: A 59-years-old woman with clinical manifestation of neurofibromatosis type 1 developed dysphagia, dysphonia, choking sensation. Physical and imagistic examination revealed a multinodular goiter with microfollicular lesion on fine needle aspiration biopsy (FNAB), elevated parathormone levels and severe osteoporosis. The surgically removed thyroid contained a nodule with follicular architecture of uncertain malignant potential; the parathyroid tissue appeared normal.Discussion and conclusion: This case serves as a reminder to look for non-neurogenic tumors in patients with neurofibromatosis. Clinicians must be aware of the diverse clinical features of this genetic disorder.

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