What is Rhombencephalosynapsis?
Rhombencephalosynapsis is a midline brain malformation characterized by missing cerebellar vermis with apparent fusion of the cerebellar hemispheres. Rhombencephalosynapsis can be seen in isolation or together with other central nervous system and extra-central nervous system malformations.
What is posterior fossa abnormality?
Abnormalities in the posterior fossa consist of cerebellar cortical cysts, polymicrogyria, and hypoplasia of the vermis, pons, and cerebellar hemispheres. 33,35. A brainstem concavity at the floor of the 4th ventricle with a z-shape appearance of the midbrain on the sagittal sequences has also been described (Figure 8) …
How many people have Rhombencephalosynapsis?
As of 2018 only 36 cases have been reported.
What is Vermian hypoplasia?
Isolated inferior vermian hypoplasia (IIVH), also referred as part of Dandy-Walker variant (DWV), is a congenital malformation characterized by partial absence of the inferior portion of the cerebellar vermis.
What is post fossa in ultrasound?
The posterior fossa is composed primarily of the following structures: the cerebellum (comprising the cerebellar hemispheres and vermis); the cerebral peduncles; the fourth ventricle; the brainstem (pons and bulb); the cisterna magna; and the tentorium.
Can you live with Dandy Walker syndrome?
The syndrome has an extreme range of severity. Some people with a Dandy-Walker variant live their entire lives without any symptoms. Others have it in association with other symptoms, resulting in severe disabilities or even death (Incesu & Khosla, 2003).
Is Dandy-Walker malformation fatal?
Rarely, people with Dandy-Walker malformation have no health problems related to the condition. Problems related to hydrocephalus or complications of its treatment are the most common cause of death in people with Dandy-Walker malformation.
What is the prognosis of rhombencephalosynapsis in adults?
Prognosis of the disease is neurologically variable involving the normal IQ to the complete lack of the intellectual ability co-occurring with ataxia, strabismus, dysarthria, nystagmus, and/or behavioral challenges including auto-aggressive and obsessive impulsive disorders.
What kind of brain malformation is rhombencephalosynapsis?
Rhombencephalosynapsis is a midline brain malformation characterized by missing cerebellar vermis with apparent fusion of the cerebellar hemispheres. Rhombencephalosynapsis can be seen in isolation or together with other central nervous system and extra-central nervous system malformations.
Can a positive test for rhombencephalosynapsis lead to GLHS?
If the results show a positive sign for the presence of the disease then further signs are ought to be looked for the confirmation of the disease named GLHS as rhombencephalosynapsis is considered to be a very important feature of this disease. So it is stated that the diagnosis of rhombencephalosynapsis may lead to the detection of GLHS.