Rhombencephalosynapsis

Scroop, Rebecca; Mr, Sage; Voyvodic, Frank

doi:10.1046/j.1440-1673.2000.00789.x

Cited by 11 publications

(13 citation statements)

References 7 publications

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“…Fusion of cerebellar peduncles and colliculi, gray matter heterotopia, stenosis or atresia of aqueduct, hypoplastic or absent inferior olivary nuclei, severe hypoplasia of the cerebellar hemispheres, and an isolated (trapped) fourth ventricle can be associated with the condition. [1][2][3][4][5][6][7][8][9][10] In our case, cerebellar changes mainly posterior fusion were consistent with partial rhombencephalosynapsis with key hole-shaped fourth ventricle. …”

Section: Discussionmentioning

confidence: 70%

“…The clinical presentation of rhombencephalosynapsis can range from mental retardation to normal intelligence and is related to the presence and severity associated with supratentorial changes. [1][2][3][4][5][6][7][8][9][10] The current patient has normal intelligence.…”

Section: Jossmentioning

confidence: 99%

“…[1][2][3][4][5][6][7][8][9][10] It can be associated with various supratentorial anomalies, [1][2][3][4][5][6][7][8][9][10] and rarely with facial and hand anomalies; 1,11,12 however, its association with spinal anomalies as well as with cerebellar tonsillar herniations and tectal beaking similar to that seen in Chiari II malformations [13][14][15] has not been reported previously. In this article, we report a case with coexistent features of partial rhombencephalosynapsis, Chiari II malformation, and spinal anomalies.…”

Section: Introductionmentioning

confidence: 99%

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Rhombencephalosynapsis and Chiari II Malformation with Spinal Deformities

Hasan

Shopra

Purohit

et al. 2017

The Journal of Spinal Surgery

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Rhombencephalosynapsis is a rare congenital intracranial malformation. Partial rhombencephalosynapsis is a variation of this anomaly with few reported cases. We report a unique case of a patient with partial rhombencephalosynapsis associated with Chiari II, and various spinal malformations, which is very rare, and only few such cases have been reported in literature. These findings suggest that rhombencephalosynapsis can be associated with spinal malformations and, furthermore, that cases with the common features of rhombencephalosynapsis and Chiari II malformation can exist. Such an association likely represents a new anomaly of the hind brain with spine.

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Section: Discussionmentioning

confidence: 70%

Section: Jossmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

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Rhombencephalosynapsis and Chiari II Malformation with Spinal Deformities

Hasan

Shopra

Purohit

et al. 2017

The Journal of Spinal Surgery

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“…Nowadays, due to technical advancement in the field of neuroimaging, this disease has attracted the attention of researches in living patients [1, 3, 12]. MRI has also revealed several adult patients with RES [9, 13, 14]. …”

Section: Discussionmentioning

confidence: 99%

Atypical Craniosynostosis with Torticollis and Neurological Symptoms: A Rhombencephalosynapsis Sequence

Koljonen

Leikola

Valanne

et al. 2009

Case Reports in Medicine

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Purpose. We describe a case of 3-year-old girl with rhombencephalosynapsis, a rare cerebellar anomaly. Patient. A 3-year-old girl was admitted to our hospital due to congenital torticollis and asymmetry of face, skull and trunk. Craniosynostosis was suspected due to abnormal head shape. 3D-CT revealed closure of the sagittal suture without scaphocephalic skull. Due to atypical craniosynostosis with neurological symptoms, brain-MRI was performed revealing rhombencephalosynapsis. Results. Our patient presented with atypical craniosynostosis and balance problems, not typical for scaphocephaly. Operative treatment for craniosynotosis was not carried out because the cause of the problems was the cerebellum instead of the brain. Conclusions. Therefore, we conclude that patients with atypical craniosynostosis should be examined with brain-MRI to exclude the intracranial malformations, which 3D-CT does not reveal. Without brain-MRI, decision (not) to perform surgery could have been different.

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“…2,3 The nature of the insult remains unknown. 4 The disorder seems to be sporadic, without instance of familial recurrence.…”

Section: Discussionmentioning

confidence: 99%