[Newborn with neurofibromatosis type 1 and meningoencephalocele]
Anna Tianjing Weng1, Anna Elisabet Lewis2, Anne Cathrine Roslev3
1Afdeling for Børn og Unge, Juliane Marie Centret, Københavns Universitetshospital - Rigshospitalet.
Abstract:
In this case report, a newborn with neurofibromatosis type 1 (NF1) and meningoencephalocele is presented. The foetus had inherited the same pathogenic defect in the NF1 gene as the father and was therefore closely monitored prenatally. The infant was born with a large frontonasal meningoencephalocele. This has not been described before and medical experience and knowledge is therefore sparse. In this case, early diagnostic imaging and scheduling of surgical intervention in collaboration with neuro- and plastic surgeons was performed.
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