Pingping Gao, Yunhai Song, Zeyang Xia, Huiqing Liu, Bo Yang
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Treatment of giant encephalocele and occipital defect in a child with neurofibromatosis type 1: illustrative case.
Background: Children with neurofibromatosis type 1 (NF1) rarely develop calvarial defects, and even more rarely do they develop encephalocele and plexiform neurofibroma (PNF).
Observations: The authors report on the repair of osseous defects of occipital bone and encephalocele in a boy with NF1 with a family history of NF1. Targeted medicine was introduced after the repair for unresectable PNF.
Lessons: The etiopathogenesis and treatment of the occipital defects and associated morbidities are discussed. https://thejns.org/doi/10.3171/CASE2561.
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