Answer for BIR CoW 11 Aug 2024
Rhombencephalosynapsis
Findings
Vermis absent with fused bilateral cerebellar hemispheres with distorted transversely oriented cerebellar folia noted. Features suggestive of Rhomboencephalosynapsis
Discussion
Rhombencephalosynapsis is characterized by absence of the vermis and continuity of the cerebellar hemispheres, dentate nuclei, and superior cerebellar peduncles. It results from a failure of vermian differentiation.
The fused development of the cerebellar hemispheres is thought to result from an insult between the 28th and 44th day of gestation
The most common clinical manifestations of rhombencephalosynapsis include : Truncal / limb ataxia Abnormal eye movements Head stereotypies Delayed motor development Long-term cognitive outcome varies from severe impairment to normalcy.
Associations : Rhombencephalosynapsis has been seen to be associated with: VACTERL Gomez-Lopez-Hernandez syndrome: comprises rhombencephalosynapsis, developmental delay, scalp alopecia, and trigeminal anaesthesia 5 Vertebral fusion anomalies Imaging features : Vermian abnormalities absent anterior (rostral) vermis deficient posterior (caudal) vermis nodulus tends to be formed Fusion of the cerebellar hemispheres, with transversely orientated inferior cerebellar folia Fusion of dentate nuclei Fusion of the superior cerebellar peduncles This usually results in an abnormally small posterior fossa, and an abnormally shaped fourth ventricle, which takes on a diamond (or key hole) shape. Additional frequently associated abnormalities include: Fusion of the thalami Fusion of inferior colliculi Absent septum pellucidum Ventriculomegaly Sutural synostosis Hypoplasia of the commissural system (Corpus callosum, Anterior commissure) Hypoplasia of the anterior visual pathway Agenesis of the posterior lobe of the pituitary
Reference :
https://pubs.rsna.org/doi/full/10.1148/rg.351140038 https://radiopaedia.org/articles/rhombencephalosynapsis
Findings
Vermis absent with fused bilateral cerebellar hemispheres with distorted transversely oriented cerebellar folia noted. Features suggestive of Rhomboencephalosynapsis
Discussion
Rhombencephalosynapsis is characterized by absence of the vermis and continuity of the cerebellar hemispheres, dentate nuclei, and superior cerebellar peduncles. It results from a failure of vermian differentiation.
The fused development of the cerebellar hemispheres is thought to result from an insult between the 28th and 44th day of gestation
The most common clinical manifestations of rhombencephalosynapsis include : Truncal / limb ataxia Abnormal eye movements Head stereotypies Delayed motor development Long-term cognitive outcome varies from severe impairment to normalcy.
Associations : Rhombencephalosynapsis has been seen to be associated with: VACTERL Gomez-Lopez-Hernandez syndrome: comprises rhombencephalosynapsis, developmental delay, scalp alopecia, and trigeminal anaesthesia 5 Vertebral fusion anomalies Imaging features : Vermian abnormalities absent anterior (rostral) vermis deficient posterior (caudal) vermis nodulus tends to be formed Fusion of the cerebellar hemispheres, with transversely orientated inferior cerebellar folia Fusion of dentate nuclei Fusion of the superior cerebellar peduncles This usually results in an abnormally small posterior fossa, and an abnormally shaped fourth ventricle, which takes on a diamond (or key hole) shape. Additional frequently associated abnormalities include: Fusion of the thalami Fusion of inferior colliculi Absent septum pellucidum Ventriculomegaly Sutural synostosis Hypoplasia of the commissural system (Corpus callosum, Anterior commissure) Hypoplasia of the anterior visual pathway Agenesis of the posterior lobe of the pituitary
Reference :
https://pubs.rsna.org/doi/full/10.1148/rg.351140038 https://radiopaedia.org/articles/rhombencephalosynapsis
Note:
We do not discourage differential diagnosis. But all the differentials must satisfy the findings noted in the case.
If you feel you have answered rightly but cannot find your name in the above list, please call 09551942599.
Did you Know?
The order in which the names appear in this winner's list is based on the time of submission. The first person to send the correct answer gets his/her name on top of the list!
We do not discourage differential diagnosis. But all the differentials must satisfy the findings noted in the case.
If you feel you have answered rightly but cannot find your name in the above list, please call 09551942599.
Did you Know?
The order in which the names appear in this winner's list is based on the time of submission. The first person to send the correct answer gets his/her name on top of the list!