Craniosynostosis of the Metopic Suture in a Patient With CADASIL/Lehman Syndrome

J Craniofac Surg. 2021 Nov-Dec;32(8):e737-e739. doi: 10.1097/SCS.0000000000007713.

Abstract

A 3-month-old patient presented for evaluation by plastic surgery with marked trigonocephaly and was subsequently diagnosed with metopic craniosynostosis. During presurgical evaluation, the patient was found to have two variants of the NOTCH3 gene, resulting in the diagnosis of lateral meningocele (Lehman) syndrome. Due to the increased possibility of stroke associated with cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy, the patient underwent only anterior calvarial vault remodeling without fronto-orbital advancement for correction of her craniosynostosis. This unique constellation of symptoms, and its impact on operative management, has not been previously described in the literature.

Publication types

  • Case Reports

MeSH terms

  • Abnormalities, Multiple
  • CADASIL*
  • Craniosynostoses* / diagnostic imaging
  • Craniosynostoses* / genetics
  • Craniosynostoses* / surgery
  • Female
  • Humans
  • Infant
  • Meningocele
  • Mutation
  • Receptor, Notch3 / genetics

Substances

  • NOTCH3 protein, human
  • Receptor, Notch3

Supplementary concepts

  • Lateral meningocele syndrome