Hypothalamic hamartomas and inner ear diverticula with X-linked stapes gusher syndrome - new associations?

Emily A. Anderson, Can Özütemiz, Bradley S. Miller, Timothy J. Moss, David R. Nascene

Research output: Contribution to journalArticlepeer-review

3 Scopus citations

Abstract

X-linked stapes gusher syndrome is a genetic form of deafness with distinct radiographic features on temporal bone CT. Hypothalamic hamartoma is a congenital glioneuronal anomaly of the hypothalamus. We report a potential association between these two rare anomalies that, to our knowledge, has not been reported. Two brothers presented with sensorineural hearing loss and almost identical inner ear and hypothalamic abnormalities, consistent with a diagnosis of X-linked stapes gusher syndrome and hypothalamic hamartoma. Genetic testing revealed identical mutations in the POU3F4 gene associated with X-linked stapes gusher syndrome. Furthermore, multiple vestibular diverticula were seen in both brothers, which have also not been reported with X-linked stapes gusher syndrome. This case suggests that POU3F4 mediated X-linked stapes gusher syndrome may also lead to multiple vestibular diverticula and hypothalamic hamartoma and, therefore, brain magnetic resonance imaging (MRI) could be considered in patients presenting with these inner ear findings.

Original languageEnglish (US)
Pages (from-to)142-145
Number of pages4
JournalPediatric Radiology
Volume50
Issue number1
DOIs
StatePublished - Jan 1 2020

Keywords

  • Child
  • Computed tomography
  • Hamartoma
  • Hypothalamus
  • Magnetic resonance imaging
  • POU3F4
  • Sensorineural hearing loss
  • X-linked stapes gusher syndrome

PubMed: MeSH publication types

  • Case Reports
  • Journal Article

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