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

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

Research output: Contribution to journal › Article

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)
JournalPediatric Radiology
DOIs
StatePublished - Jan 1 2019

Fingerprint

Stapes
Diverticulum
Inner Ear
Siblings
Sensorineural Hearing Loss
Temporal Bone
Genetic Testing
Deafness
Hypothalamus
Magnetic Resonance Imaging
Hypothalamic hamartomas
Mutation
Brain
Genes

Keywords

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

PubMed: MeSH publication types

  • Journal Article

Cite this

Hypothalamic hamartomas and inner ear diverticula with X-linked stapes gusher syndrome - new associations? / Anderson, Emily A.; Ozutemiz, Can; Miller, Bradley S.; Moss, Timothy J.; Nascene, David R.

In: Pediatric Radiology, 01.01.2019.

Research output: Contribution to journal › Article

Anderson, EA, Ozutemiz, C, Miller, BS, Moss, TJ & Nascene, DR 2019, 'Hypothalamic hamartomas and inner ear diverticula with X-linked stapes gusher syndrome - new associations?', Pediatric Radiology. https://doi.org/10.1007/s00247-019-04497-z
Anderson EA, Ozutemiz C, Miller BS, Moss TJ, Nascene DR. Hypothalamic hamartomas and inner ear diverticula with X-linked stapes gusher syndrome - new associations? Pediatric Radiology. 2019 Jan 1. https://doi.org/10.1007/s00247-019-04497-z
Anderson, Emily A. ; Ozutemiz, Can ; Miller, Bradley S. ; Moss, Timothy J. ; Nascene, David R. / Hypothalamic hamartomas and inner ear diverticula with X-linked stapes gusher syndrome - new associations?. In: Pediatric Radiology. 2019.
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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.",
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AU - Nascene, David R

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AB - 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.

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