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.

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 Lung parenchima changes in neurofibromatosis type 1

2016 ◽  
Vol 73 (2) ◽  
pp. 202-204
Author(s):  
Aleksandra Ilic ◽  
Snezana Raljevic ◽  
Tatjana Adzic ◽  
Vesna Skodric-Trifunovic ◽  
Jelena Stanimirovic
Keyword(s):  
Intensive Care Unit ◽  
Intensive Care ◽  
Case Report ◽  
Neurofibromatosis Type 1 ◽  
Single Gene ◽  
Neurofibromatosis Type ◽  
Nerve Sheath Tumor ◽  
X Rays ◽  
Neurogenic Tumors

Introduction. Neurofibromatosis type 1 (NF1), also known as von Recklinghausen disease, is one of the most common single-gene disorders (mutation on chromosome 17q) and usually associated with cutaneous, musculoskeletal and neurological disorders in humans. NF1 is generally complicated with one or more neurobehavioral disorders or tumors located in the peripheral nervous system such as neurofibromas, peripheral nerve sheath tumor, pheochromocytoma, etc. In the available medical literature, the thoracic manifestations of NF1 have been rarely described in these patients. There are few reports about intrathoracic neurogenic tumors, kyphoscoliosis, pneumonitis and pulmonary fibrosis in patients with NF1. Case report. A 65-year-old female was admitted to the Intensive Care Unit at the Lung Clinic of Belgrade University Clinical Center of Serbia. The patient?s general condition was poor with shortness of breath and present cyanosis. At the same time, the skin changes similar to NF1 were noticed, which were additionally documented by her medical history and diagnosed as NF1. After the application of noninvasive mechanical ventilation and other emergency respiratory medicine measures, the patient soon felt better. The parenchymal changes were viewed by subsequent X-rays and CT scanning of the thorax. Conclusion. This is a case report presenting the NF1 associated with the abnormality of lung parenchyma established during diagnostic procedures at the Intensive Care Unit, Clinic of Pulmonology.

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 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 The impact of host immune cells on the development of neurofibromatosis type 1: The abnormal immune system provides an immune microenvironment for tumorigenesis

2019 ◽  
Vol 2 (Supplement_1) ◽  
pp. i33-i39
Author(s):  
Cheng-Jiang Wei ◽  
Shu-Chen Gu ◽  
Jie-Yi Ren ◽  
Yi-Hui Gu ◽  
Xiang-Wen Xu ◽  
...  
Keyword(s):  
Immune System ◽  
Immune Cells ◽  
Neurofibromatosis Type 1 ◽  
Immune Escape ◽  
Genetic Disorder ◽  
Neurofibromatosis Type ◽  
Complex Interactions ◽  
Nf1 Gene ◽  
The Impact

Abstract AbstractThe immune system plays an essential role in the development of tumors, which has been demonstrated in multiple types of cancers. Consistent with this, immunotherapies with targets that disrupt these mechanisms and turn the immune system against developing cancers have been proven effective. In neurofibromatosis type 1 (NF1), an autosomal dominant genetic disorder, the understanding of the complex interactions of the immune system is incomplete despite the discovery of the pivotal role of immune cells in the tumor microenvironment. Individuals with NF1 show a loss of the NF1 gene in nonneoplastic cells, including immune cells, and the aberrant immune system exhibits intriguing interactions with NF1. This review aims to provide an update on recent studies showing the bilateral influences of NF1 mutations on immune cells and how the abnormal immune system promotes the development of NF1 and NF1-related tumors. We then discuss the immune receptors major histocompatibility complex class I and II and the PD-L1 mechanism that shield NF1 from immunosurveillance and enable the immune escape of tumor tissues. Clarification of the latest understanding of the mechanisms underlying the effects of the abnormal immune system on promoting the development of NF1 will indicate potential future directions for further studies and new immunotherapies.

Oral Manifestations of Neurofibromatosis Type 1 in Children with Facial Plexiform Neurofibroma: Report of Three Cases

2015 ◽  
Vol 39 (2) ◽  
pp. 168-171 ◽  
Author(s):  
KS Cunha ◽  
RE Rozza-de-Menezes ◽  
RM Andrade ◽  
LMS Almeida ◽  
MER Janini ◽  
...  
Keyword(s):  
Trigeminal Nerve ◽  
Neurofibromatosis Type 1 ◽  
Soft Tissues ◽  
Genetic Disorder ◽  
Plexiform Neurofibroma ◽  
Neurofibromatosis Type ◽  
Oral Manifestations ◽  
Plexiform Neurofibromas ◽  
Organ Systems

Neurofibromatosis type 1 (NF1) is a common autosomal genetic disorder with a prevalence of 1 in 3,000 births. NF1 is a complex syndrome characterized by many abnormalities and may affect all organ systems. Oral manifestations of NF1 occur frequently, but reports including NF1 children with facial plexiform neurofibromas and oral alterations are scant. Facial plexiform neurofibroma may cause asymmetry, disfigurement and usually arises from the trigeminal nerve. The aim of this paper is to to report three pediatric NF1 cases with facial plexiform neurofibroma presenting with oral manifestations, which were evaluated clinically and radiographically, and also to briefly review the literature. Patients presented with changes in the oral soft tissues, jaws, and teeth ipsilateral to the tumor.

scholarly journals Neurofibromin regulates metabolic rate via neuronal mechanisms in Drosophila

2021 ◽  
Vol 12 (1) ◽  
Author(s):  
Valentina Botero ◽  
Bethany A. Stanhope ◽  
Elizabeth B. Brown ◽  
Eliza C. Grenci ◽  
Tamara Boto ◽  
...  
Keyword(s):  
Metabolic Rate ◽  
Neurofibromatosis Type 1 ◽  
Genetic Disorder ◽  
Neurofibromatosis Type ◽  
Pathophysiological Mechanism ◽  
Metabolic Homeostasis ◽  
Loss Of Function ◽  
Dynamic Activity ◽  
Neuronal Mechanisms

AbstractNeurofibromatosis type 1 is a chronic multisystemic genetic disorder that results from loss of function in the neurofibromin protein. Neurofibromin may regulate metabolism, though the underlying mechanisms remain largely unknown. Here we show that neurofibromin regulates metabolic homeostasis in Drosophila via a discrete neuronal circuit. Loss of neurofibromin increases metabolic rate via a Ras GAP-related domain-dependent mechanism, increases feeding homeostatically, and alters lipid stores and turnover kinetics. The increase in metabolic rate is independent of locomotor activity, and maps to a sparse subset of neurons. Stimulating these neurons increases metabolic rate, linking their dynamic activity state to metabolism over short time scales. Our results indicate that neurofibromin regulates metabolic rate via neuronal mechanisms, suggest that cellular and systemic metabolic alterations may represent a pathophysiological mechanism in neurofibromatosis type 1, and provide a platform for investigating the cellular role of neurofibromin in metabolic homeostasis.

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 Neurofibromatosis Type 1 Associated with Hashimoto’s Thyroiditis: Coincidence or Possible Link

2013 ◽  
Vol 2013 ◽  
pp. 1-4 ◽  
Author(s):  
Junaid Nabi
Keyword(s):  
Neurofibromatosis Type 1 ◽  
Hashimoto’S Thyroiditis ◽  
Neurofibromatosis Type ◽  
Lymphocytic Infiltration ◽  
Needle Aspiration ◽  
Left Lobe ◽  
Hashimoto's Thyroiditis ◽  
Autoimmune Thyroid ◽  
Hands And Feet

Introduction. Hashimoto's thyroiditis is a common form of chronic autoimmune thyroid disease (AITD) and often coexists with other autoimmune diseases, but Hashimoto’s thyroiditis associated with an autosomal dominant neurofibromatosis type 1 is exceedingly rare.Case Presentation. A 30-year-old Bengali woman presented to the OPD with complaints of aching pain and tingling sensation in her hands and feet. Physical examination revealed dysmorphic facies, nodular swelling in the neck, cafe-au-lait spots, and neurofibromas covering the entire surface of her body. Her thyroid hormones were within normal limits. Thyroid ultrasound revealed a cystic area in the left lobe of the gland, and ultrasound-guided fine needle aspiration cytology revealed lymphocytic infiltration of the gland, suggesting Hashimoto’s thyroiditis. High levels of autoimmune antibodies such as antithyroglobulin and antimicrosomal antibodies confirmed the diagnosis.Conclusion. When encountered with a patient of Neurofibromatosis type 1, a physician should be careful about the possibility of a concomitant autoimmune disease. Clinical presentation of neurofibromatosis and Noonan syndrome often overlaps and recent studies have implicated a mutation in NF1 gene in the etiology of NFNS. More extensive reports and further investigations of such patients having combination of neurofibromatosis type 1 and autoimmune thyroiditis will certainly provide better understanding of this link in the near future.

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