Periventricular small cystic lesions in a patient with Coffin-Lowry syndrome who exhibited a novel mutation in the RPS6KA3 gene

Brain Dev. 2018 Aug;40(7):566-569. doi: 10.1016/j.braindev.2018.03.012. Epub 2018 Apr 17.

Abstract

Background: Coffin-Lowry syndrome is a rare X-linked disease, caused by loss-of-function mutations in the RPS6KA3 gene. Patients exhibit severe intellectual disability with characteristic dysmorphism. As there are no specific laboratory findings to support the diagnosis of Coffin-Lowry syndrome, it may be difficult to diagnose-especially in young children, where the characteristic craniofacial features are less discernible.

Case: Here we report on a 2-year-old boy with Coffin-Lowry syndrome with a novel missense mutation in the RPS6KA3 gene. On magnetic resonance imaging, his brain exhibited periventricular signal abnormalities with multiple small cystic lesions. These findings may aid in diagnosis of Coffin-Lowry syndrome.

Keywords: Coffin-Lowry syndrome; MRI; Periventricular cystic lesions; RPS6KA3; RSK2.

Publication types

  • Case Reports

MeSH terms

  • Brain / diagnostic imaging*
  • Child, Preschool
  • Coffin-Lowry Syndrome / diagnosis*
  • Coffin-Lowry Syndrome / genetics*
  • Coffin-Lowry Syndrome / pathology
  • Diagnosis, Differential
  • Face / abnormalities
  • Humans
  • Magnetic Resonance Imaging
  • Male
  • Mutation, Missense*
  • Phenotype
  • Ribosomal Protein S6 Kinases, 90-kDa / genetics*

Substances

  • Ribosomal Protein S6 Kinases, 90-kDa
  • ribosomal protein S6 kinase, 90kDa, polypeptide 3