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Article

Pathogenesis and treatment of a giant occipital bone defect with meningoencephalocele in an NF1 child: case report and review of the literature.

Child's nervous system : ChNS : official journal of the International Society for Pediatric Neurosurgery - 1 Jan 2024

Antico Alice, Vitulli Francesca, Rossi Andrea, Gaggero Gabriele, Piatelli Gianluca, Consales Alessandro

Abstract excerpt

Autosomal dominantly inherited neurofibromatosis type I (NF1) is a systemic disorder caused by a mutation of a gene on chromosome 17q11.2 and characterized by multiple café-au-lait spots, lentiginous macules, Lisch nodules of the iris, and tumors of the nervous system. Bony manifestations such as scoliosis, dysplasia of the greater sphenoidal wing, tibial pseudoarthrosis, short stature, and macrocephaly have been...

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PMID: 37993698
DOI: 10.1007/s00381-023-06232-4

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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