scholarly journals Establishing the diagnosis neurofibromatosis type 1: A rare case

2019 ◽  
Author(s):  
Dyatiara Devy ◽  
D. Damayanti
Keyword(s):  
Neurofibromatosis Type 1 ◽  
De Novo ◽  
Malignant Tumors ◽  
Neurofibromatosis Type ◽  
The Body ◽  
Multisystem Disorder ◽  
Wide Range ◽  
Multidisciplinary Clinic ◽  
History Of

Neurofibromatosis type 1 (NF1) or Von Recklinghausen's disease is a dominantly inherited genetic, multisystem disorder. Individuals with neurofibromatosis type 1 are prone to develop benign and malignant tumors of the CNS and peripheral nervous system, in addition to malignant diseases affecting other parts of the body. About 50% of individuals with neurofibromatosis type 1 have no family history of the disease and the disease is due to de novo (spontaneous) mutations. Early diagnosis is challenging because of its extremely variable characteristics. Some individuals may be mildly affected showing minimal signs, whereas others are severely afflicted. Individuals with NF-1 are best cared for within a multidisciplinary clinic, which has access to a wide range of subspecialists. The dermatologist has a role not only in the diagnosis of NF1 and differentiating it from other similar disorders, but also in the recognition of rare associated skin manifestations.

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.

scholarly journals Identification of a germline CSPG4 variation in a family with neurofibromatosis type 1-like phenotype

2021 ◽  
Vol 12 (8) ◽  
Author(s):  
Zhuanli Bai ◽  
Yiping Qu ◽  
Lin Shi ◽  
Xinju Li ◽  
Zhen Yang ◽  
...  
Keyword(s):  
Neurofibromatosis Type 1 ◽  
De Novo ◽  
Neurofibromatosis Type ◽  
Multisystem Disorder ◽  
Functional Studies ◽  
Whole Exome ◽  
Germline Variation ◽  
Increased Susceptibility

AbstractNeurofibromatosis type 1 (NF1), an autosomal dominant and multisystem disorder, is generally considered to be caused by NF1 inactivation. However, there are also numerous studies showing that Neurofibromatosis type 1-like phenotype can be caused by the abnormalities in the other genes. Through targeted parallel sequencing, whole-exome sequencing, de novo genomic sequencing, and RNA isoform sequencing, we identified a germline V2097M variation in CSPG4 gene probably increased susceptibility to a NF1-like phenotype family. Besides, a series of in vitro functional studies revealed that this variant promoted cell proliferation by activating the MAPK/ERK signaling pathway via hindering ectodomain cleavage of CSPG4. Our data demonstrate that a germline variation in the CSPG4 gene might be a high risk to cause NF1-like phenotype. To our knowledge, this is the first report of mutations in the CSPG4 gene in human diseases.

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.

Brain metastasis of Wilms tumor with diffuse anaplasia and complex cytogenetic phenotype in a child with neurofibromatosis Type 1

2011 ◽  
Vol 8 (4) ◽  
pp. 353-356
Author(s):  
Marianna Shvartsbeyn ◽  
Luigi Bassani ◽  
Irina Mikolaenko ◽  
Jeffrey H. Wisoff
Keyword(s):  
Brain Metastasis ◽  
Neurofibromatosis Type 1 ◽  
Wilms Tumor ◽  
Metastatic Tumor ◽  
Neurofibromatosis Type ◽  
Radiological Features ◽  
First Case ◽  
History Of ◽  
The Brain

The authors report the first case of a Wilms tumor (WT) with diffuse anaplasia metastatic to the brain in a 13-year-old girl with a history of neurofibromatosis Type 1. At presentation, the metastatic tumor had radiological features that suggested a meningioma. Histologically it was characterized by striking anaplasia and features similar to the patient's previously resected WT with diffuse anaplasia.

scholarly journals Multiple Gastric Gastrointestinal Stromal Tumors in a Patient with Neurofibromatosis Type 1

2016 ◽  
Vol 2016 ◽  
pp. 1-5
Author(s):  
Makoto Tomatsu ◽  
Jun Isogaki ◽  
Takahiro Watanabe ◽  
Kiyoshige Yajima ◽  
Takuya Okumura ◽  
...  
Keyword(s):  
Neurofibromatosis Type 1 ◽  
Gastrointestinal Stromal Tumors ◽  
Kinase Inhibitor ◽  
Submucosal Tumor ◽  
Neurofibromatosis Type ◽  
Stromal Tumors ◽  
Serosal Surface ◽  
History Of ◽  
Small Intestinal

Gastrointestinal stromal tumors (GISTs) are relatively common in neurofibromatosis type 1 (NF 1) patients. Approximately 90% of GISTs associated with NF 1 are located in the small intestine, while sporadic GISTs are most commonly located in the stomach. Here we report an extremely rare case of an NF 1 patient with multiple gastric GITs (90 or more) but without multiple small intestinal tumors. A 63-year-old female patient who had a history of NF 1 underwent surgery for a gastric neuroendocrine tumor and gastric submucosal tumor (SMT). During the operation, multiple small nodules were identified on the serosal surface of the upper stomach. SMT and multiple nodules on the serosal surface were diagnosed as GISTs consisting of spindle cells positive for KIT, CD34, and DOG-1. Both GIST and the normal gastric mucosa showed no mutations not only in the c-kitgene (exons 8, 9, 11, 13, and 17) but also in thePDGFRAgene (exons 12, 14, and 18). This patient is being followed up without the administration of a tyrosine kinase inhibitor.

scholarly journals A Rare Case of Hypophosphataemic Osteomalacia in von Recklinghausen Neurofibromatosis

2021 ◽  
Author(s):  
Yasmine Makhlouf ◽  
Soumaya Boussaid ◽  
Houda Ajlani ◽  
Samia Jemmali ◽  
Sonia Rekik ◽  
...  
Keyword(s):  
Neurofibromatosis Type 1 ◽  
Fibroblast Growth Factor 23 ◽  
Neurofibromatosis Type ◽  
High Dose ◽  
Rare Tumour ◽  
Appropriate Treatment ◽  
History Of ◽  
Von Recklinghausen ◽  
Hypophosphataemic Osteomalacia

Background: Neurofibromatosis type 1 (NF1), also known as von Recklinghausen disease, is a one of the more common hereditary autosomal disorders. However, osteomalacia in neurofibromatosis type 1 is very rare tumour-induced osteomalacia; fibroblast growth factor-23 is usually implicated. Patients and methods: We report the case of a patient with a history of von Recklinghausen neurofibromatosis who presented with hypophosphataemic osteomalacia. Results: The patient was treated with high-dose calcitriol and oral phosphate with clinical improvement. Conclusion: Even though it is a rare entity, we must consider the diagnosis of hypophosphataemic osteomalacia in patients with neurofibromatosis in order to deliver appropriate treatment.

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