Abstract
Object. Rhombencephalosynapsis (RS) is a rare congenital posterior fossa malformation characterized by dorsal fusion of the cerebellar hemispheres, hypogenesis or agenesis of the vermis, and fusion of the dentate nuclei and superior cerebellar peduncles. The objective of this institutional study is to review the clinical conditions associated with RS and analyze the varied biological profile of this unique condition. Methods. The study data were collected retrospectively from the medical records of patients at Rainbow Babies and Children's Hospital. After required institutional review board approval, the authors obtained information regarding the cases of RS reviewed by the Departments of Radiology, Genetics, and/or Pediatric Neurology. Medical charts were systematically reviewed, and 9 patients were analyzed in detail. Results. The authors describe 6 cases of RS and 3 cases of partial RS. This case series demonstrates an association between RS and symptomatic hydrocephalus (7 of 9 patients) and RS and Chiari malformation (5 of 9 patients). Patients with symptomatic hydrocephalus underwent endoscopic third ventriculostomy or ventriculoperitoneal shunt insertion. One of the patients with an associated Chiari malformation underwent foramen magnum decompression. Conclusions. The authors present a large case series of RS. Patients with RS often had hydrocephalus and/or a Chiari Type I or II hindbrain malformation. Neuroimaging findings of RS are presented along with hypotheses to explain the embryopathology of this unusual condition.
| Original language | English (US) |
|---|---|
| Pages (from-to) | 320-326 |
| Number of pages | 7 |
| Journal | Journal of Neurosurgery: Pediatrics |
| Volume | 11 |
| Issue number | 3 |
| DOIs | |
| State | Published - Mar 2013 |
| Externally published | Yes |
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Keywords
- Congenital malformation
- Embryology
- Hydrocephalus
- Posterior fossa malformation
- Rhombencephalosynapsis
ASJC Scopus subject areas
- Clinical Neurology
- Surgery
- Pediatrics, Perinatology, and Child Health
Cite this
Rhombencephalosynapsis : Embryopathology and management strategies of associated neurosurgical conditions with a review of the literature. / Weaver, John; Manjila, Sunil; Bahuleyan, Biji; Bangert, Barbara A.; Cohen, Alan.
In: Journal of Neurosurgery: Pediatrics, Vol. 11, No. 3, 03.2013, p. 320-326.Research output: Contribution to journal › Review article
}
TY - JOUR
T1 - Rhombencephalosynapsis
T2 - Embryopathology and management strategies of associated neurosurgical conditions with a review of the literature
AU - Weaver, John
AU - Manjila, Sunil
AU - Bahuleyan, Biji
AU - Bangert, Barbara A.
AU - Cohen, Alan
PY - 2013/3
Y1 - 2013/3
N2 - Object. Rhombencephalosynapsis (RS) is a rare congenital posterior fossa malformation characterized by dorsal fusion of the cerebellar hemispheres, hypogenesis or agenesis of the vermis, and fusion of the dentate nuclei and superior cerebellar peduncles. The objective of this institutional study is to review the clinical conditions associated with RS and analyze the varied biological profile of this unique condition. Methods. The study data were collected retrospectively from the medical records of patients at Rainbow Babies and Children's Hospital. After required institutional review board approval, the authors obtained information regarding the cases of RS reviewed by the Departments of Radiology, Genetics, and/or Pediatric Neurology. Medical charts were systematically reviewed, and 9 patients were analyzed in detail. Results. The authors describe 6 cases of RS and 3 cases of partial RS. This case series demonstrates an association between RS and symptomatic hydrocephalus (7 of 9 patients) and RS and Chiari malformation (5 of 9 patients). Patients with symptomatic hydrocephalus underwent endoscopic third ventriculostomy or ventriculoperitoneal shunt insertion. One of the patients with an associated Chiari malformation underwent foramen magnum decompression. Conclusions. The authors present a large case series of RS. Patients with RS often had hydrocephalus and/or a Chiari Type I or II hindbrain malformation. Neuroimaging findings of RS are presented along with hypotheses to explain the embryopathology of this unusual condition.
AB - Object. Rhombencephalosynapsis (RS) is a rare congenital posterior fossa malformation characterized by dorsal fusion of the cerebellar hemispheres, hypogenesis or agenesis of the vermis, and fusion of the dentate nuclei and superior cerebellar peduncles. The objective of this institutional study is to review the clinical conditions associated with RS and analyze the varied biological profile of this unique condition. Methods. The study data were collected retrospectively from the medical records of patients at Rainbow Babies and Children's Hospital. After required institutional review board approval, the authors obtained information regarding the cases of RS reviewed by the Departments of Radiology, Genetics, and/or Pediatric Neurology. Medical charts were systematically reviewed, and 9 patients were analyzed in detail. Results. The authors describe 6 cases of RS and 3 cases of partial RS. This case series demonstrates an association between RS and symptomatic hydrocephalus (7 of 9 patients) and RS and Chiari malformation (5 of 9 patients). Patients with symptomatic hydrocephalus underwent endoscopic third ventriculostomy or ventriculoperitoneal shunt insertion. One of the patients with an associated Chiari malformation underwent foramen magnum decompression. Conclusions. The authors present a large case series of RS. Patients with RS often had hydrocephalus and/or a Chiari Type I or II hindbrain malformation. Neuroimaging findings of RS are presented along with hypotheses to explain the embryopathology of this unusual condition.
KW - Congenital malformation
KW - Embryology
KW - Hydrocephalus
KW - Posterior fossa malformation
KW - Rhombencephalosynapsis
UR - http://www.scopus.com/inward/record.url?scp=84874668667&partnerID=8YFLogxK
UR - http://www.scopus.com/inward/citedby.url?scp=84874668667&partnerID=8YFLogxK
U2 - 10.3171/2012.12.PEDS12188
DO - 10.3171/2012.12.PEDS12188
M3 - Review article
C2 - 23331215
AN - SCOPUS:84874668667
VL - 11
SP - 320
EP - 326
JO - Journal of Neurosurgery: Pediatrics
JF - Journal of Neurosurgery: Pediatrics
SN - 1933-0707
IS - 3
ER -