scholarly journals Clinical manifestations of neurofibromatosis type 1 – a diagnostic and management challenge

2018 ◽  
Vol 128 (3) ◽  
pp. 107-110
Author(s):  
Anna Maria Dąbrowska ◽  
Agnieszka Zwolak
Keyword(s):  
Neurofibromatosis Type 1 ◽  
Clinical Symptoms ◽  
Spontaneous Mutation ◽  
Positive Family History ◽  
Clinical Manifestations ◽  
Neurofibromatosis Type ◽  
The Body ◽  
Coarctation Of Aorta ◽  
Management Challenge

Abstract Introduction. Neurofibromatosis type 1 (NF1), caused by mutation of the tumour-suppressor gene encoding neurofibromin, is an autosomal dominant disorder affecting various organs. Aim. The aim of the study was to discuss the clinical symptoms of NF1 based on seven cases of the disease with regard to the literature. Material and methods. We analyzed retrospectively patients with NF1 (4 females and 3 males) aged 19-52 who were treated at Endocrinology Department between 2003 and 2017. The diagnosis was made in childhood (4 patients) or in adolescence (3 cases), based on clinical symptoms and genetic tests. Results. Five patients had a positive family history of NF1, two cases represented spontaneous mutation. All of analyzed subjects presented café-au-lait spots and neurofibromas on the body. We observed neurological disorders such as: epilepsy (2 patients), Arnold-Chiari malformation (1 man), benign brain neoplasms (2 persons). Optic gliomas appeared in two cases. Tumours were also found in other organs, including the uterus (2 women), the lung, the adrenals, the pituitary and the parathyroid gland (with signs of primary hyperparathyroidism) – each tumour in another patient. Four subjects suffered from cognitive impairment. Skeletal manifestations of neurofibromatosis type 1 such as scoliosis (1 man) and short stature (6 patients) have been noted as well. Five patients presented thyroid disorders – hypothyroidism due to Hashimoto’s disease (4 patients), toxic nodular goiter (1 woman). Other clinical symptoms e.g. vitiligo, alopecia areata and coarctation of aorta have also been found. Conclusions. Variety of clinical symptoms causes that NF1 still remains a diagnostic and management challenge for many physicians. Therefore, multidisciplinary approach is needed to optimize patients’ treatment.

scholarly journals Association between neurofibromatosis type 1 and cerebrovascular diseases in children: A systematic review

PLoS ONE ◽  
2021 ◽  
Vol 16 (1) ◽  
pp. e0241096
Author(s):  
Beatriz Barreto-Duarte ◽  
Fabiana H. Andrade-Gomes ◽  
María B. Arriaga ◽  
Mariana Araújo-Pereira ◽  
Juan Manuel Cubillos-Angulo ◽  
...  
Keyword(s):  
Systematic Review ◽  
Neurofibromatosis Type 1 ◽  
Clinical Investigation ◽  
Cerebrovascular Disorders ◽  
Clinical Manifestations ◽  
Neurofibromatosis Type ◽  
Aneurysm Rupture ◽  
The Body ◽  
Wide Range

Background Neurofibromatosis type 1 (NF-1) is an autosomal dominant disease that affects one in every 3000 individuals. This disease can present a wide range of clinical manifestations, ranging from skin abnormalities to severe vascular damage. Although not commonly recognized in the context of NF-1, cerebrovascular disease (CVD), can be often present since childhood and diagnosed just later in life. When present, NF-1-associated CVD clinical manifestations may include headache, cognitive deficits and ultimately aneurysm rupture, causing death. Thus, CVD plays an important role in the clinical manifestations, disease severity and prognosis of patients with NF-1. This systematic review aims to summarize the body of evidence linking NF-1 and CVD in children. Methods Two independent investigators performed a systematic review on the PubMed and EMBASE search platforms, using the following key terms: “neurofibromatosis type 1”, “Von Recklinghausen’s disease”, "children", "adolescents", "stroke", "Moyamoya disease", "vascular diseases", "cerebrovascular disorders", "aneurysm" and "congenital abnormalities". Studies focused on assessing the development of CVD in children with NF-1 were included. Results Seven studies met the inclusion criteria. Twelve different clinical manifestations have been associated with cerebrovascular changes in children with NF-1; 44,5% of diagnosed patients were asymptomatic. Conclusion The available evidence suggests that CVDs are related with the progression of NF-1, even in the absence of a clear clinical manifestation. In addition, improved prognosis was observed when imaging tests were performed to screen for cerebrovascular alterations early during the clinical investigation. Early diagnosis of CVD in NF-1 patients foster implementation of timely interventions, directly impacting clinical outcomes.

scholarly journals Association between neurofibromatosis type 1 and cerebrovascular diseases in children: a systematic review

2020 ◽  
Author(s):  
Beatriz Barreto-Duarte ◽  
Fabiana H. Andrade-Gomes ◽  
María B. Arriaga ◽  
Mariana Araújo-Pereira ◽  
Juan Manuel Cubillos-Angulo ◽  
...  
Keyword(s):  
Systematic Review ◽  
Neurofibromatosis Type 1 ◽  
Cerebrovascular Disorders ◽  
Clinical Manifestations ◽  
Neurofibromatosis Type ◽  
Cerebrovascular Diseases ◽  
Aneurysm Rupture ◽  
The Body ◽  
Wide Range

ABSTRACTBackgroundNeurofibromatosis type 1 (NF-1) is an autosomal dominant disease that affects one in every 3000 individuals. This disease can present a wide range of clinical manifestations, ranging from skin abnormalities to severe vascular changes. Although little recognized, cerebrovascular diseases (CVD), often present since childhood and diagnosed late, may have clinical manifestations ranging from headache and cognitive deficits to aneurysm rupture causing death. Thus, the CVD play an important role in the clinical manifestations, the severity of the condition and the prognosis of patients with NF-1. This systematic review aims to summarize the body of evidence linking NF-1 and CVD the in children.MethodsTwo independent reviewers performed a systematic review on the PubMed and EMBASE search platforms, using the following key terms: “neurofibromatosis type 1”, “recklinghausen disease”, “children”, “adolescents”, “stroke”, “moyamoya disease”, “vascular diseases”, “cerebrovascular disorders”, “aneurysm” and “congenital abnormalities”. Studies focused on assessing the development of CVD in children with NF-1 were included.ResultsSeven studies met the inclusion criteria. Twelve different clinical manifestations have been associated with cerebrovascular changes in children with NF-1; 44,5% of diagnosed patients were asymptomatic.ConclusionThe available evidence suggests that cerebrovascular diseases are related with the progression of NF-1, even in the absence of a clear clinical manifestation. In addition, better prognosis was observed when imaging tests were performed to screen for cerebrovascular changes. This generated early interventions and consequently more favorable outcomes.

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 Dissociated Deficits between Explicit and Implicit Empathetic Pain Perception in Neurofibromatosis Type 1

2021 ◽  
Vol 11 (12) ◽  
pp. 1591
Author(s):  
Hai Xue ◽  
Qiong Wu ◽  
Zhijun Yang ◽  
Bo Wang ◽  
Xingchao Wang ◽  
...  
Keyword(s):  
Cognitive Deficits ◽  
Neurofibromatosis Type 1 ◽  
Pain Perception ◽  
Neurofibromatosis Type ◽  
Brain Network ◽  
The Body ◽  
Network Activity ◽  
Lower Accuracy ◽  
High Level

Cognitive impairments and social-function deficits are severe complaints in neurofibromatosis type 1 (NF1) patients. Empathetic pain perception may be disrupted in NF1 patients because of high-level cognitive deficits. This study investigated the empathy profiles of adult patients with NF1, especially concerning whether explicit and implicit empathetic pain perception are abnormal in this population. We examined empathetic pain perception through a paradigm based on perceiving another person’s pain; in this task, patients were required to make judgments about the presence of pain or the laterality of the body part, as shown in a picture. Twenty NF1 patients without obvious social or communication difficulties completed the task, and the results were compared with results from the normal controls (NCs). Regarding explicit empathetic pain processing, i.e., judging the presence of “pain” or “no pain”, there were no significant differences between patients and controls in accuracy or reaction time. However, in implicit empathetic processing, i.e., judging the laterality of “pain” or “no-pain” pictures, NF1 patients had significantly lower accuracy (p = 0.038) and significantly higher reaction times (p = 0.004) than the NCs. These results were consistent with those of a previous study showing that high-level cognitive deficits were prominent in NF1 patients when performing challenging tasks. The mechanisms and related brain network activity underlying these deficits should receive attention in the future.

scholarly journals A multi-institutional study of brainstem gliomas in children with neurofibromatosis type 1

Neurology ◽  
2017 ◽  
Vol 88 (16) ◽  
pp. 1584-1589 ◽  
Author(s):  
Jasia Mahdi ◽  
Amish C. Shah ◽  
Aimee Sato ◽  
Stephanie M. Morris ◽  
Robert C. McKinstry ◽  
...  
Keyword(s):  
Neurofibromatosis Type 1 ◽  
Clinical Symptoms ◽  
Therapy Group ◽  
Clinical Signs ◽  
Neurofibromatosis Type ◽  
Optic Pathway Glioma ◽  
Focal Lesions ◽  
Asymptomatic Children ◽  
Csf Diversion

Objective:To define the clinical and radiologic features of brainstem gliomas (BSGs) in children with neurofibromatosis type 1 (NF1).Methods:We performed a retrospective cross-sectional study of 133 children with NF1 and concurrent BSGs cared for at 4 NF1 referral centers. BSG was determined using radiographic criteria. Age at diagnosis, tumor location and appearance, clinical symptoms, treatment, and presence of a concurrent optic pathway glioma were assessed.Results:The average age at BSG diagnosis was 7.2 years, and tumors occurred most often in the midbrain and medulla (66%). The majority of children with NF1-BSGs were asymptomatic (54%) and were not treated (88%). Only 9 of the 72 asymptomatic children received treatment because of progressive tumor enlargement. In contrast, 61 children presented with clinical signs/symptoms attributable to their BSG; these individuals were older and more often had focal lesions. Thirty-one patients underwent treatment for their tumor, and 14 received CSF diversion only. Progression-free survival was ∼3 years shorter for children receiving tumor-directed therapy relative to those who had either no treatment or CSF diversion only. Overall survival was 85% for the tumor-directed therapy group, whereas no deaths were reported in the untreated or CSF diversion groups.Conclusions:Unlike children with sporadically occurring BSGs, most children with NF1-BSGs were asymptomatic, and few individuals died from complications of their tumor. Those requiring tumor-directed treatment tended to be older children with focal lesions, and had clinically more aggressive disease relative to those who were not treated or underwent CSF diversion only.

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