Coexistence of Neurofibromatosis Type-1 and MTHFR C677T Gene Mutation in a Young Stroke Patient: A Case Report

Yılmaz, Halim; Erkin, Gülten; Gümüş, Haluk; Nalbant, Lutfiye

doi:10.1155/2013/735419

Cited by 3 publications

(1 citation statement)

References 12 publications

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“…In NF1, severe cognitive impairment not linked to a 17q11.2 microdeletion syndrome or not explainable by other causes should not exclude the albeit rare possibility of another concomitant genetic condition. The high mutation rate of NF1 and the relatively not low worldwide prevalence of neurofibromatosis type 1, can explain the occurrence with NF1 of distinct genetic condition in the same patient [ 27 – 30 ]. This case report clearly underscores the need for more extensive genetic investigation, today possible thanks to massive clinical application of next-generation sequencing-based genetic testing, when the identification of a causative mutation does not fully explain the observed phenotype.…”

Section: Discussionmentioning

confidence: 99%

A novel RAB39B mutation and concurrent de novo NF1 mutation in a boy with neurofibromatosis type 1, intellectual disability, and autism: a case report

et al. 2020

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Background: Mutations in RAB39B at Xq28 causes a rare form of X-linked intellectual disability (ID) and Parkinson's disease. Neurofibromatosis type 1 (NF1) is caused by heterozygous mutations in NF1 occurring de novo in about 50% of cases, usually due to paternal gonadal mutations. This case report describes clinical and genetic findings in a boy with the occurrence of two distinct causative mutations in NF1 and RAB39B explaining the observed phenotype. Case presentation: Here we report a 7-year-old boy with multiple café-au-lait macules (CALMs) and freckling, severe macrocephaly, peculiar facial gestalt, severe ID with absent speech, epilepsy, autistic traits, self-harming, and aggressiveness. Proband is an only child born to a father aged 47. Parents did not present signs of NF1, while a maternal uncle showed severe ID, epilepsy, and tremors.By RNA analysis of NF1, we identified a de novo splicing variant (NM_000267.3:c.6579+2T>C) in proband, which explained NF1 clinical features but not the severe ID, behavioral problems, and aggressiveness. Family history suggested an X-linked condition and massively parallel sequencing of X-exome identified a novel RAB39B mutation (NM_171998.2:c.436_447del) in proband, his mother, and affected maternal uncle, subsequently validated by Sanger sequencing in these and other family members. Conclusions: The case presented here highlights how concurrent genetic defects should be considered in NF1 patients when NF1 mutations cannot reasonably explain all the observed clinical features.

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Section: Discussionmentioning

confidence: 99%

A novel RAB39B mutation and concurrent de novo NF1 mutation in a boy with neurofibromatosis type 1, intellectual disability, and autism: a case report

et al. 2020

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

Barreto-Duarte

Andrade-Gomes

Arriaga

et al. 2020

Preprint

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BackgroundNeurofibromatosis 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.

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Young stroke due to vascular anomaly from neurofibromatosis type 1

2012

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SummaryAetiology of stroke in young is often different to that of an older person. In nearly half of these cases no cause is established. Every effort should be explored to establish a cause as treatment varies accordingly and the prognosis with rehabilitation is favourable when compared with older people. We present a case of pontine infarct in a 43-year-old man due to vascular ectasia associated with neurofibromatosis type 1. Following the stroke, the patient went through intensive rehabilitation where he had a good functional outcome. BACKGROUND

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Coexistence of Neurofibromatosis Type-1 and MTHFR C677T Gene Mutation in a Young Stroke Patient: A Case Report

Cited by 3 publications

References 12 publications

A novel RAB39B mutation and concurrent de novo NF1 mutation in a boy with neurofibromatosis type 1, intellectual disability, and autism: a case report

A novel RAB39B mutation and concurrent de novo NF1 mutation in a boy with neurofibromatosis type 1, intellectual disability, and autism: a case report

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

Young stroke due to vascular anomaly from neurofibromatosis type 1

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