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 language | English (US) |
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Journal | Pediatric Radiology |
DOIs | |
State | Published - Jan 1 2019 |
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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.; Özütemiz, Can; Miller, Bradley S.; Moss, Timothy J.; Nascene, David R.
In: Pediatric Radiology, 01.01.2019.Research output: Contribution to journal › Article
}
TY - JOUR
T1 - Hypothalamic hamartomas and inner ear diverticula with X-linked stapes gusher syndrome - new associations?
AU - Anderson, Emily A.
AU - Özütemiz, Can
AU - Miller, Bradley S.
AU - Moss, Timothy J.
AU - Nascene, David R.
PY - 2019/1/1
Y1 - 2019/1/1
N2 - 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.
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.
KW - Child
KW - Computed tomography
KW - Hamartoma
KW - Hypothalamus
KW - Magnetic resonance imaging
KW - POU3F4
KW - Sensorineural hearing loss
KW - X-linked stapes gusher syndrome
UR - http://www.scopus.com/inward/record.url?scp=85070862893&partnerID=8YFLogxK
UR - http://www.scopus.com/inward/citedby.url?scp=85070862893&partnerID=8YFLogxK
U2 - 10.1007/s00247-019-04497-z
DO - 10.1007/s00247-019-04497-z
M3 - Article
C2 - 31440883
AN - SCOPUS:85070862893
JO - Pediatric Radiology
JF - Pediatric Radiology
SN - 0301-0449
ER -