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

Pediatr Radiol. 2020 Jan;50(1):142-145. doi: 10.1007/s00247-019-04497-z. Epub 2019 Aug 22.


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.

Keywords: Child; Computed tomography; Hamartoma; Hypothalamus; Magnetic resonance imaging; POU3F4; Sensorineural hearing loss; X-linked stapes gusher syndrome.

Publication types

  • Case Reports

MeSH terms

  • Child, Preschool
  • Diverticulum / complications
  • Diverticulum / diagnostic imaging
  • Diverticulum / genetics
  • Ear, Inner / diagnostic imaging
  • Hamartoma / complications
  • Hamartoma / diagnostic imaging*
  • Hamartoma / genetics*
  • Hearing Loss, Sensorineural / complications
  • Hearing Loss, Sensorineural / genetics*
  • Humans
  • Hypothalamic Diseases / complications
  • Hypothalamic Diseases / diagnostic imaging*
  • Hypothalamic Diseases / genetics*
  • Labyrinth Diseases / complications
  • Labyrinth Diseases / diagnostic imaging*
  • Labyrinth Diseases / genetics*
  • Magnetic Resonance Imaging / methods
  • Male
  • POU Domain Factors / genetics*
  • Stapes / diagnostic imaging
  • Syndrome
  • Tomography, X-Ray Computed / methods


  • POU Domain Factors
  • POU3F4 protein, human

Supplementary concepts

  • Hypothalamic hamartomas