16p11.2 Microduplication Syndrome with Increased Fluid in the Cisterna: Coincidence or Phenotype Extension?

Genes (Basel). 2023 Aug 3;14(8):1583. doi: 10.3390/genes14081583.

Abstract

We report the first case of a child with 16p11.2 microduplication syndrome with increased fluid in the cisterna magna seen on magnetic resonance imaging (MRI). This finding may correspond to a Blake's Pouch Cyst (BPC) or a Mega Cisterna Magna (MCM), being impossible to differentiate through image examination. The molecular duplication was diagnosed using chromosomal microarray analysis with single nucleotide polymorphism (SNP). We review the clinical and neuroimaging features in published case reports in order to observe the findings described in the literature so far and present a skull three-dimensional model to contribute to a better understanding. Despite the variable expressivity of the syndrome being well known, there is no case described in the available literature that mentions the association of 16p11.2 microduplication and the presence of BPC or MCM seen in neuroimaging exams. This finding may represent an extension of the phenotype not yet reported or may present itself as a coincidence in a child with various malformations.

Keywords: 16p11.2 microduplication syndrome; Blake’s pouch cyst; Mega cisterna magna.

Publication types

  • Case Reports
  • Research Support, Non-U.S. Gov't
  • Review

MeSH terms

  • Chromosome Structures*
  • Head*
  • Humans
  • Neuroimaging
  • Phenotype
  • Polymorphism, Single Nucleotide
  • Syndrome

Grants and funding

The authors thank the participating studies for the data provided. This work was funding by Coordenação de Aperfeiçoamento de Pessoal de Nível Superior—Brasil (CAPES)—Finance Code 001 and Edital PROPPG nº 17/2022—Selection Process for Postdoctoral Scholarships/UFCSPA.