What causes Rhombencephalosynapsis?
While most cases are nonsyndromic, rhombencephalosynapsis may be associated with VACTERL (vertebral anomalies, anal atresia, cardiovascular anomalies, tracheoesophageal fistula, renal anomalies, and limb defects) or other congenital supratentorial anomalies (Bosemani et al., 2015; Poretti et al., 2016).
How many cases of Rhombencephalosynapsis are there?
As of 2018 only 36 cases have been reported.
What is midbrain Fusion?
The midbrain is often fused across the midline (mesencephalosynapsis) which is recognized by fused colliculi and sometimes associated with evidence of aqueductal obstruction. Absent septum pellucidum, dysplastic corpus callosum, and absent olfactory bulbs are also frequently noted.
What are the symptoms of Rhombencephalosynapsis?
Common symptoms include mental retardation, ataxia, spasticity, and epilepsy. Patients may be asymptomatic if rhombencephalosynapsis is an isolated finding.
What is Rhombencephalosynapsis?
Rhombencephalosynapsis (RES) is a sporadic cerebellar malformation characterized by partial or complete absence of the cerebellar vermis and apparent fusion of the cerebellar hemispheres. RES can be seen in isolation or in combination with other brain malformations and malformations outside the nervous system.
Is medulla a hindbrain?
The lower part of both the brainstem and the overall hindbrain is the medulla oblongata, where the brain transitions to the spinal cord.
How many people have Dandy-Walker?
Frequency. Dandy-Walker malformation is estimated to affect 1 in 10,000 to 30,000 newborns.
Can ataxia be unilateral?
How it affects the body and to what extent depends on where in the cerebellum the damage occurs, and whether lesions occur on one side (unilateral) or both sides (bilateral). Ataxia can change a person’s posture. If damage occurs in the vestibulocerebellum, it will affect the person’s balance and eye movement control.
How do I check my truncal ataxia?
Truncal ataxia was measured by independent observers as grade 1, mild to moderate imbalance with walking independently; grade 2, severe imbalance with standing, but cannot walk without support; and grade 3, falling at upright posture.