scholarly journals Clinical characteristics and mutation Spectrum of NF1 in 12 Chinese families with orbital/periorbital plexiform Neurofibromatosis type 1

2019 ◽  
Vol 20 (1) ◽  
Author(s):  
Peiwei Chai ◽  
Yingxiu Luo ◽  
Chuandi Zhou ◽  
Yefei Wang ◽  
Xianqun Fan ◽  
...  
Keyword(s):  
Mutation Analysis ◽  
Clinical Characteristics ◽  
Plexiform Neurofibroma ◽  
Neurofibromatosis Type ◽  
Successive Generation ◽  
Chinese Patients ◽  
Coding Region ◽  
Plexiform Neurofibromatosis ◽  
Intron Mutation ◽  
Successive Generations

Abstract Background Orbital/periorbital plexiform neurofibroma (OPPN) can compromise physical appearance and visual function. However, the clinical characteristics and NF1 mutation landscape in patients with heritable OPPN have not been reported. Methods The medical charts of 26 Chinese patients with OPPN from 12 families were reviewed. Mutation analysis of the entire coding region and flanking splice sites of the NF1 gene was performed using next-generation sequencing (NGS). Novel NF1 mutations were confirmed by Sanger sequencing. Results Compared to the parental generation, a significantly larger proportion of OPPN patients in the successive generation presented with earlier onset (p = 0.001), amblyopia (p = 0.034), motility disorders (p = 0.009) and bony orbital expansion (p = 0.019). Six novel NF1 mutations were identified in 11 (91.67%) families, including 6 (42.9%) single-base substitutions, 4 (28.5%) splicing mutations, 3 (21.4%) frameshift deletions, and 1 (7.14%) intron mutation. Conclusions The successive generation of OPPN patients presented with earlier onset and exhibited more severe ocular signs than did their parents or grandparents. Special attention should be paid to successive generations of OPPN patients. Considering that 6 mutations were novel, comprehensive NF1 mutation analysis is required or necessary or proposed for genetic counselling.

scholarly journals Plexiform Neurofibroma during Pregnancy, a Case Report from College Teaching Hospital, Kohalpur

2019 ◽  
Vol 17 (1) ◽  
pp. 58-59
Author(s):  
Nirmala Sharma ◽  
Durga B.C.
Keyword(s):  
Case Report ◽  
Neurofibromatosis Type 1 ◽  
Plexiform Neurofibroma ◽  
College Teaching ◽  
Neurofibromatosis Type ◽  
Connective Tissues ◽  
Previous Pregnancy ◽  
Plexiform Neurofibromatosis ◽  
Made In

Plexiform neurofibromas are rare variant (30%) of neurofibromatosis type 1 (NF-1) in which neurofibromas arise as large deforming masses from multiple nerve endings involving also connective tissues and skin folds. We report a case of 24 years old female, second gravida and one parity with diagnosis of plexiform neurofibromatosis made in previous pregnancy with remission of symptoms after pregnancy and accentuation during second pregnancy with positive pregnancy outcome.

Clinical characteristics and NF1 gene mutation analysis of three successive generations in three different Indian families with neurofibromatosis type 1 and peripheral nerve sheath tumours

2018 ◽  
Vol 53 ◽  
pp. 62-68 ◽  
Author(s):  
Bodapati Chandra Mouleshwara Prasad ◽  
Vemula Venkata Ramesh Chandra ◽  
Agarwal Sudarsan ◽  
Pasupuleti Santhosh Kumar ◽  
Potukuchi Venkata Gurunadha Krishna Sarma
Keyword(s):  
Peripheral Nerve ◽  
Gene Mutation ◽  
Neurofibromatosis Type 1 ◽  
Clinical Characteristics ◽  
Neurofibromatosis Type ◽  
Nerve Sheath ◽  
Nf1 Gene ◽  
Successive Generations ◽  
Gene Mutation Analysis

scholarly journals Plexiform Neurofibroma of Clitoris

2017 ◽  
Vol 06 (04) ◽  
pp. 244-246 ◽  
Author(s):  
Dhanya Yesodharan ◽  
Bindu Sudarsanan ◽  
Annie Jojo ◽  
Mohan Abraham ◽  
Nisha Bhavani ◽  
...  
Keyword(s):  
Differential Diagnosis ◽  
Neurofibromatosis Type 1 ◽  
Plexiform Neurofibroma ◽  
Neurofibromatosis Type ◽  
Plexiform Neurofibromatosis

AbstractThe most frequent genital presentation of neurofibromatosis in females is clitoromegaly. We report a case of a 5-year-old girl with neurofibromatosis type 1 with clitoral plexiform neurofibromatosis. Clitoroplasty was done, and the histopathology confirmed the diagnosis. Though rare, plexiform neurofibroma of clitoris should always be considered as a differential diagnosis in children with clitoromegaly before embarking on detailed investigations.

scholarly journals Clinical Characteristics and Gene Mutation Analysis of the Chinese Han Population with Gitelman Syndrome: 3 Case Reports and a Literature Review

2020 ◽  
Vol 2020 ◽  
pp. 1-6
Author(s):  
Xueting Li ◽  
Ruofei Chen ◽  
Mingwei Chen
Keyword(s):  
Gene Mutation ◽  
Mutation Analysis ◽  
Clinical Characteristics ◽  
Clinical Phenotype ◽  
Gene Mutations ◽  
Gitelman Syndrome ◽  
Chinese Patients ◽  
Compound Heterozygous ◽  
Homozygous Mutation ◽  
Gene Mutation Analysis

The present study reported clinical characteristics and the results of gene mutation analysis of 3 Chinese patients with Gitelman syndrome (GS). Three patients manifested with normal blood pressure, recurrent hypokalemia, and metabolic alkalosis. Only case 2 had obvious hypomagnesemia. Gene sequencing showed a compound heterozygous mutation in SCL12A3 in case 1 and a homozygous mutation in SCL12A3 in case 2. Heterozygous mutations in SCL12A3 and CLCNKB were found in case 3. Then, the literature was reviewed. The keyword “Gitelman syndrome” was inputted into the PubMed, Wanfang Database, and CNK to search all Chinese patients with GS diagnosed by gene mutations and to extract complete clinical data from December 1998 to 2018. Finally, a total of 124 cases of GS were included. No significant differences in the levels of serum potassium and magnesium were observed among the different gene mutations, and the serum magnesium levels in adults were lower than those of the juvenile. GS with reduced blood magnesium had a serious clinical phenotype. Therefore, GS had a diverse phenotype, and its final diagnosis required genetic profiling. The relationship of gene mutation and clinical phenotype needed further study.

Clinical characteristics and mutation analysis of five Chinese patients with maple syrup urine disease

2018 ◽  
Vol 33 (3) ◽  
pp. 741-751 ◽  
Author(s):  
Xiaomei Li ◽  
Yali Yang ◽  
Qing Gao ◽  
Min Gao ◽  
Yvqiang Lv ◽  
...  
Keyword(s):  
Mutation Analysis ◽  
Maple Syrup Urine Disease ◽  
Clinical Characteristics ◽  
Chinese Patients ◽  
Maple Syrup ◽  
Urine Disease

scholarly journals Anesthetic Considerations in a Patient With Plexiform Neurofibromatosis: A Case Report

2018 ◽  
Vol 5 (4) ◽  
pp. 169-170
Author(s):  
Pardis Soltanpoor ◽  
Faranak Behnaz ◽  
Mehdi Farokhi ◽  
Reza Jalili Khoshnood ◽  
Hamid Reza Azizi Farsani
Keyword(s):  
Gastrointestinal Stromal Tumors ◽  
Plexiform Neurofibroma ◽  
Neurofibromatosis Type ◽  
Stromal Tumors ◽  
Anesthetic Considerations ◽  
Plexiform Neurofibromatosis ◽  
History Of ◽  
The Brain ◽  
Other Neoplasms

Plexiform neurofibromatosis is an uncommon variant of neurofibromatosis type 1 (NF1) (Von Recklinghausen’s disease). There is a greater prevalence of neurofibromatosis 1 in patients with other neoplasms, such as rhabdomyosarcomas, gastrointestinal stromal tumors (GISTs), pheochromocytomas, carcinoid tumors and ganglioneuromas. We report the anesthetic implications of a case of a 33 year old patient with plexiform neurofibromatosis and a history of pheochromocytoma which was operated on previously. He presented with painless swelling on upper eye-lead since childhood and had multiple caféau-lait spots and neurofibromas on the trunk. The surgery was done in two sessions first on the plexiform neurofibroma of the eye followed by the operation on the brain mass.

Giant plexiform neurofibroma in neurofibromatosis type 1

2018 ◽  
Vol 153 (5) ◽  
Author(s):  
Emanuele Miraglia ◽  
Teresa Lopez ◽  
Stefano Calvieri ◽  
Sandra Giustini
Keyword(s):  
Neurofibromatosis Type 1 ◽  
Plexiform Neurofibroma ◽  
Neurofibromatosis Type

scholarly journals Congenital Craniofacial Plexiform Neurofibroma in Neurofibromatosis Type 1

Diagnostics ◽  
2021 ◽  
Vol 11 (2) ◽  
pp. 218
Author(s):  
Antonella Cacchione ◽  
Alessia Carboni ◽  
Mariachiara Lodi ◽  
Rita De Vito ◽  
Andrea Carai ◽  
...  
Keyword(s):  
Neurofibromatosis Type 1 ◽  
Correct Diagnosis ◽  
Plexiform Neurofibroma ◽  
Neurofibromatosis Type ◽  
Detection Techniques ◽  
Life Threatening ◽  
Magnetic Resonance Imaging Mri ◽  
Diagnostic Work ◽  
Radiological Methods

We present a case demonstrating the performance of different radiographical imaging modalities in the diagnostic work-up of a patient with neurofibromatosis type 1 (NF1) and plexiform neurofibroma (PN). The newborn boy showed an expansive-infiltrative cervical and facial mass presented with macrocrania, craniofacial disfigurement, exophthalmos and glaucoma. A computer tomography (CT) and a magnetic resonance imaging (MRI) were performed. The CT was fundamental to evaluate the bone dysmorphisms and the MRI was crucial to estimate the mass extension. The biopsy of the lesion confirmed the suspicion of PN, thus allowing the diagnosis of NF1. PN is a variant of neurofibromas, a peripheral nerves sheath tumor typically associated with NF1. Even through currently available improved detection techniques, NF1 diagnosis at birth remains a challenge due to a lack of pathognomonic signs; therefore congenital PN are recognized in 20% of cases. This case highlights the importance of using different radiological methods both for the correct diagnosis and the follow-up of the patient with PN. Thanks to MRI evaluation, it was possible to identify earlier the progressive increasing size of the PN and the possible life threatening evolution in order to perform a tracheostomy to avoid airways compression.

Mutation analysis of the GLA gene in Chinese patients with intracerebral hemorrhage

2021 ◽  
Author(s):  
Lu Tang ◽  
Qiong Yang ◽  
Xiaolu Liu ◽  
Danyang Tian ◽  
Chenying Wu ◽  
...  
Keyword(s):  
Intracerebral Hemorrhage ◽  
Mutation Analysis ◽  
Chinese Patients ◽  
Gla Gene

scholarly journals Clinical features and disease severity in patients with mosaic neurofibromatosis type 1: a single-center study and literature review

2021 ◽  
Vol 16 (1) ◽  
Author(s):  
C. Ejerskov ◽  
M. Raundahl ◽  
P. A. Gregersen ◽  
M. M. Handrup
Keyword(s):  
Cognitive Impairment ◽  
Learning Disability ◽  
Diagnostic Criteria ◽  
Clinical Features ◽  
Neurofibromatosis Type 1 ◽  
Plexiform Neurofibroma ◽  
Neurofibromatosis Type ◽  
Language Delay

Abstract Background The mosaic form of neurofibromatosis type 1 (NF1) is called mosaic NF1 (MNF1). No specific MNF1 follow-up guidelines exist. It is debatable if patients with MNF1 should be clinically examined and undergo follow-up in accordance with the standard NF1 guidelines, as MNF1 patients more often may develop more benign phenotypes and thereby less disease-associated complications including cognitive impairment. We discussed the need for a specific MNF1 follow-up guideline with focus on frequency of plexiform neurofibromas and NF1-associated complications. Method A systematic retrospective data collection in a MNF1 cohort from one of two Danish national centers of NF1 Expertise was completed. Data collected included demographics, clinical features including NF1 diagnostic criteria and NF1-associated complications. Recent literature in the field was reviewed. Results We identified 17 patients with MNF1 with a median age of 37 years [4; 66]. Eleven (65%) were females. Five patients (30%) had a plexiform neurofibroma. The median age at detection of plexiform neurofibroma was 30 years [14; 60]. Nine (53%) had at least one NF1-related complication; scoliosis, hypertension, ADHD, learning disability, language delay, autism and delay in gross and fine motor function development. We reviewed nine articles. In total, 126 cases were described within three case-series. Nineteen (15%) had a plexiform neurofibroma and in total, 23 NF1-associated complications were reported including language delay, learning disability and skeletal abnormalities. Furthermore, from the literature it was evident that the diagnosing of MNF1 varies among physicians and across countries. Conclusion Patients with MNF1 present with plexiform neurofibromas and other NF1-related complications with a frequency requiring that follow-up of MNF1 patients should be in accordance with the standard NF1 guideline in both childhood and adulthood. Physicians should be aware of cognitive impairment as a complication to MNF1. To develop a specific MNF1 follow-up guideline, there is a need for an international consensus on the diagnostic criteria for MNF1 and a follow-up study conducted in a larger MNF1 cohort.

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