Paeds Cases · genetics-dysmorphology-and-metabolism
Neurofibromatosis type 1 — clinical case
A clinical case of neurofibromatosis type 1: a preschool child with multiple cafe-au-lait macules and freckling presenting with a painful enlarging leg lump, illustrating the diagnostic criteria, the surveillance plan, and the recognition of malignant peripheral nerve sheath tumour.
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Case summary
This four-year-old boy has an established diagnosis of NF1 by the NIH criteria, meeting cafe-au-lait macules and skinfold freckling, and he now presents with a painful, rapidly enlarging, firm lump on his left thigh. The clinical question is whether this represents malignant transformation of a pre-existing plexiform neurofibroma into a malignant peripheral nerve sheath tumour, which is the most feared and life-threatening complication of NF1. [1]
References4ShowHide
- [1]Gutmann DH, Ferner RE, Listernick RH, et al. Neurofibromatosis type 1. Nat Rev Dis Primers, 2017.PMID 28230061
- [5]Legius E, Messiaen L, Wolkenstein P, et al. Revised diagnostic criteria for neurofibromatosis type 1 and Legius syndrome: an international consensus recommendation. Genet Med, 2021.PMID 34012067
- [8]Gross AM, Wolters PL, Dombi E, et al. Selumetinib in Children with Inoperable Plexiform Neurofibromas. N Engl J Med, 2020.PMID 32187457
- [10]Williams VC, Lucas J, Babcock MA, et al. Neurofibromatosis type 1 revisited. Pediatrics, 2009.PMID 19117870