Literature DB >> 31658349

Neurofibromatosis type 1 associated with moyamoya syndrome. Case report and review of the literature.

Magdalena Budişteanu1, Carmen Magdalena Burloiu, Sorina Mihaela Papuc, Ina Ofelia Focşa, Dan Riga, Sorin Riga, Aurora Arghir.   

Abstract

Neurofibromatosis type 1 (NF1) is a genetic disorder with a very heterogeneous clinical picture, affecting central nervous system, skin and bone system. Cerebrovascular lesions, such as moyamoya syndrome, are rarely seen in NF1. Approximately 250 children with NF1 and moyamoya syndrome have been reported. The clinical picture includes hemiparesis, hemianopsia, paresthesia, seizures, speech disorders, and intellectual disability. In this paper, we report on a 6-year-old girl with NF1 and moyamoya syndrome, with a brief review of the existing literature.

Entities:  

Mesh:

Year:  2019        PMID: 31658349

Source DB:  PubMed          Journal:  Rom J Morphol Embryol        ISSN: 1220-0522            Impact factor:   1.033


  4 in total

1.  Systemic vasculopathy and hypertension in a child: Answers.

Authors:  Emre Leventoğlu; Kibriya Fidan; Bahar Büyükkaragöz; Esra Serdaroğlu; Tuba Atalay; Merve Yazol; Oğuz Söylemezoğlu
Journal:  Pediatr Nephrol       Date:  2021-10-11       Impact factor: 3.714

2.  Epilepsy and Electroencephalogram Characteristics in Children with Neurofibromatosis Type 1, What We Have Learned from a Tertiary Center Five Years' Experience.

Authors:  Abdulhafeez M Khair; Stephen Falchek; Rahul Nikam; Gurcharanjeet Kaur
Journal:  Child Neurol Open       Date:  2022-10-11

Review 3.  Western Moyamoya Phenotype: A Scoping Review.

Authors:  Raphael Miller; Santiago R Unda; Ryan Holland; David J Altschul
Journal:  Cureus       Date:  2021-11-22

Review 4.  The Genetic Basis of Moyamoya Disease.

Authors:  R Mertens; M Graupera; H Gerhardt; A Bersano; E Tournier-Lasserve; M A Mensah; S Mundlos; P Vajkoczy
Journal:  Transl Stroke Res       Date:  2021-09-16       Impact factor: 6.829

  4 in total

北京卡尤迪生物科技股份有限公司 © 2022-2023.