Clinical Phenotype of South African Children With Neurofibromatosis 1

Ramanjam, Veruschka; Adnams, Colleen M.; Ndondo, Alvin; Fieggen, Graham; Fieggen, Karen; Wilmshurst, Jo M.

doi:10.1177/08830738060210011501

Cited by 10 publications

(7 citation statements)

References 13 publications

(28 reference statements)

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“…The diagnosis is made according to the NIH 1988 clinical diagnostic criteria 8 . Clinical features of NF-1 detected in our patients were similar with many studies reported in literature previously 13,14 .…”

Section: Discussionsupporting

confidence: 91%

Nörofibromatozis tip 1 olan çocuklarda klinik fenotipi etkileyen faktörler

Kamiş

Yağcı-Küpeli

2021

Cukurova Medical Journal

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In this study, it was aimed to evaluate the clinical, radiological and genetic features of children who were followed up with the diagnosis of Neurofibromatosis type 1 (NF-1). Materials and Methods: Patients who were 0-18 years diagnosed with Neurofibromatosis according to National Institute of Health 1988 criteria between September 2012 and September 2019 were included in the study. Patient data were collected through patient files and hospital information system. Results: A total of 50 patients were included in the study. The male/female ratio was 0.92. The median age at the time of diagnosis was 5.6 years (age range: 1-18 years). The most common finding was cafe-au-lait spots detected in all patients. Family history was found in 60% of the patients and consanguinity between parents in 14%. Neurofibroma was detected in 12%, Lisch nodule in 36% of the patients. Axillary freckling ratio was 82%, inguinal freckling ratio was 78%. Tumors were found in 22% of the patients, optic glioma in 12%, and plexiform neurofibroma in 6%. Focal areas of signal intensity (FASI) was found 56% in cranial magnetic resonance imaging (MRI). Conclusion:The relationship between mutation type and clinical and radiological features in NF-1 was evaluated. There was no statistically significant difference in clinical and radiological findings between patients with or without mutation. Large-scale studies are needed to reveal the factors that determine the clinical phenotype in patients with NF-1 diagnosis. Amaç: Bu çalışmada, Nörofibromatozis tip 1 (NF-1) tanısı ile izlenen çocukların klinik, radyolojik ve genetik özelliklerinin değerlendirilmesi amaçlanmıştır. Gereç ve Yöntem: Eylül 2012 ile Eylül 2019 tarihleri arasında Ulusal Sağlık Enstitüsü 1988 kriterlerine göre 0-18 yaş Nörofibramatozis tanısı almış hastalar çalışmaya dahil edildi. Hasta verileri, hasta dosyaları ve hastane bilgi sistemi üzerinden toplandı. Bulgular: Toplam 50 hasta çalışmaya alındı. Erkek / kız oranı 0,92 idi. Tanı anındaki ortanca yaş 5,6 yıldı (yaş aralığı: 1-18 yıl). Tüm hastalarda saptanan en yaygın bulgu Cafe-au-lait lekeleriydi. Hastaların %60'ında aile öyküsü ve %14'ünde ebeveynler arasında akrabalık saptandı. Hastaların %12'sinde nörofibrom, %36'sında Lisch nodülü saptandı. Aksiler çillenme oranı %82, inguinal çillenme oranı %78 idi. Hastaların %22'sinde tümör, %12'sinde optik gliom ve %6'sında pleksiform nörofibrom saptandı. Kraniyal manyetik rezonans görüntülemede (MRG) %56 oranında fokal alanlarda sinyal yoğunluk artışı (FASI) saptandı. Sonuç: NF-1'de mutasyon tipi ile klinik ve radyolojik özellikler arasındaki ilişki değerlendirildi. Mutasyonlu ve mutasyonsuz hastalar arasında klinik ve radyolojik bulgular açısından istatistiksel olarak anlamlı bir fark yoktu. NF-1 tanılı hastalarda klinik fenotipi belirleyen faktörleri ortaya çıkarmak için geniş ölçekli çalışmalara ihtiyaç vardır.

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Section: Discussionsupporting

confidence: 91%

Nörofibromatozis tip 1 olan çocuklarda klinik fenotipi etkileyen faktörler

Kamiş

Yağcı-Küpeli

2021

Cukurova Medical Journal

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“…However, in a third series, these lesions were not associated with intellectual impairment 9 . In a study by Ramanjam et al, the rate of learning difficulty was found to be 70% in African children with NF1 and this ratio, which is higher than others in the literature, was tried to be explained by reasons such as poor socioeconomic level, bad nutrition, maternal education and education system 21 . In our study, 22 (61.1%) of the patients with T2H of cerebral MRI were girls and this relationship was statistically significant.…”

Section: Discussionmentioning

confidence: 92%

Nörofibromatozis tip 1 tanılı hastalarda nöroradyolojik bulguların kognitif fonksiyonlara etkisi

Mert¹,

Uçar²

2019

Cukurova Medical Journal

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The aim of this study was to evaluate the clinical and radiological findings of children with Neurofibromatosis Type 1 (NF1), and to investigate the factors affecting cognitive functions. Materials and Methods: Fifty-one patients who were diagnosed as NF1 in the Pediatric Neurology Clinic of Çukurova University Medical School were included in this study. Age, sex distribution, presence of family history, presence of parental consanguinity, intelligence tests, learning disabilities, presence of motor retardation, presence of autism, presence of attention deficit and hyperactivity disorder presence of behavior disorder, neuroimaging findings, seizure histories, and number of antiepileptic drugs used were evaluated retrospectively. Results: Of the patients, 27 (50.9%) were female and 26 (49.1%) were male. Twenty-seven (50.9%) were hereditary, 26 (49.1%) were sporadic, while 8 (29.6%) of the hereditary patients were from the mother and 19 (70.4%) were from the father. A statistically significant relationship was found between the presence of T2 hyperintensity in cerebral magnetic resonance imaging (MRI) and female gender, presence of macrocephaly and mental retardation. Additionally, an important relationship was established between the presence of autism, and attention deficit hyperactivity disorder and mental retardation. Conclusion: Although a relationship between clinical and radiological findings have been found, there are associations waiting to be clarified in patients with NF1 who are not included in the diagnostic criteria, such as macrocephaly. Amaç: Bu çalışmada, Nörofibromatozis Tip 1 (NF1) tanısıyla takip edilen çocukların klinik ve radyolojik bulgularının değerlendirilmesi, kognitif fonksiyonlara etki eden faktörlerin araştırılması amaçlandı. Gereç ve Yöntem: Bu çalışmaya 2 Çukurova Üniversitesi Tıp Fakültesi Çocuk Nöroloji Polikliniğinde NF1 tanısı alan, en az 1 yıllık izlemi olan 53 hasta alındı. Hastaların yaşı, cinsiyet dağılımı, aile öyküsü varlığı, anne-baba arasında akrabalık varlığı, zeka testleri, öğrenme güçlüğü, motor gerilik varlığı, otizm varlığı, dikkat eksikliği ve hiperaktivite bozukluğu varlığı, davranış bozukluğu varlığı, nörogörüntüleme bulguları, nöbet öyküleri, kullandığı antiepileptik ilaç sayıları açısından retrospektif olarak değerlendirildi. Bulgular: Hastaların 27'si (%50.9) kız, 26'sı (%49.1) erkekti. Yirmiyedisi (%50.9) herediter, 26'sı (%49.1) sporadik geçişliyken, herediter olanların 8'i (%29.6) anneden, 19'u (%70.4) babadan geçişli idi. Serebral manyetik rezonans görüntülemede (MRG) T2 hiperintensitesi varlığı ile hastaların kız cinsiyette olması, makrosefali varlığı ve mental retardasyon varlığı arasında istatistiksel olarak anlamlı bir ilişki saptandı. Ayrıca otizm varlığı ve dikkat eksikliği hiperaktivite bozukluğu ile mental retardasyon arasında önemli bir ilişki saptandı. Sonuç: Klinik ve radyolojik olarak bazı bulgular arasında ilişki varlığı saptansa da oluş mekanizmaları bilinmemekle birlikte, makrosefali gibi tanı kriterleri içinde yer almayan ancak NF1'li hastala...

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“…Blazo et al reported that optic glioma was found in 15% of 84 patients with NF 1 [27]. Ramanjam et al reported that 6% of patients with NF 1 had optic glioma in in their study [10]. In the study of Ferner et al, the optic glioma rate was reported as 15% [28].…”

Section: Discussionmentioning

confidence: 92%

“…In NF1 disease, the sexes are generally affected equally [14]. In the study of Ramanjam et al, 26 of 48 patients diagnosed with NF1 were reported as female (54%) and 22 as male (46%) [10]. In the study of Corsello et al, it was reported that 49.1% of the patients were girls and 50.9% were boys [15].…”

Section: Discussionmentioning

confidence: 99%

Genotype–Phenotype Correlation of Novel NF1 Gene Variants Detected by NGS in Patients with Neurofibromatosis Type 1

Öz

2021

Neurochem. J.

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Neurofibromatosis type 1 (NF1) is an inherited tumor predisposition syndrome. The high susceptibility to benign-malignant tumors and frequency of complications have revealed the importance of genetic molecular diagnosis and regular follow-up of patients. The aim of this study was to identify the genetic mutations that cause the disease and provide genotype/phenotype correlations. The patients with NF1 assessed in the genetic outpatient clinic between 2018 and 2020 were included in the study. The NF1 gene was analyzed by next generation sequencing (NGS) method. Patient's demografic features and the results of NF1 gene analysis were investigated retrospectively. Café au lait spots were present in all 40 patients included in the study. Lisch nodule was observed in 20%, optic glioma in 10%, neurofibroma in 12.5%, hamartoma in 10%, short stature in 10% of patients. Cranial MRI abnormalities were detected in 55% of patients. We detected four novel mutations which were not reported before in the literature; p.S2460*, p.Q1360sFS*20, p.K1457* and p.K918*.Prediction of complications that may arise in patients according to mutations and information about genotype-phenotype correlations can be helpful in the management of the disease. Early diagnosis, informing families about NF1 disease, providing genetic counseling, and regular follow-up of patients by a team of experts from different branches are important in terms of minimizing the mortality and morbidity of NF1.

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Clinical Phenotype of South African Children With Neurofibromatosis 1

Cited by 10 publications

References 13 publications

Nörofibromatozis tip 1 olan çocuklarda klinik fenotipi etkileyen faktörler

Nörofibromatozis tip 1 olan çocuklarda klinik fenotipi etkileyen faktörler

Nörofibromatozis tip 1 tanılı hastalarda nöroradyolojik bulguların kognitif fonksiyonlara etkisi

Genotype–Phenotype Correlation of Novel NF1 Gene Variants Detected by NGS in Patients with Neurofibromatosis Type 1

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