in this video we'll be talking about dandy walker malformation which is a congenital brain malformation predominantly affecting the cerebellar development cerebellum is a region in the brain that regulates balance coordination movement posture Etc so obviously one can understand what is the manifestation of this disease dandy walker malformation is a congenital malformation which leads to a cystic dilation of the fourth ventricle so there is a portion back of the Hedge head which bulge out and there is a hypoplasia or agenesis of the cerebellar varmis then there is enlargement of the posterior fossa and these are the predominant or the key features of dandywalker malformation these kind of features of Daniel Walker malformation can be detected using MRI imaging so this is how a control and the dandy walker malformation look like notice the cerebellum nicely pointed out in the control MRI whereas if you look at the MRI of a dandy walker patient the cerebellum look pretty much small so obviously there is an over overall hypoplasia of the cerebellum and moreover there is a cystic dilation of the fourth ventricle there are too much of cerebrospinal fluid which are obstructed in these particular ventricle that creates the Bulge in the back of the head so obviously in the during the birth there is a appearance of macrocephaly the macrocephalic appearance is mostly due to the obstructive nature of the overall fourth ventricle there are fluid accumulation so this is how exactly the sagittal coronal and horizontal view of an MRI look like for a dandy walker patient this is how our skull fossa look like this is the anterior cranial fossa medial and posterior cranial fossa in case of dandy walker malformation the posterior Canal fossa is defective so this is how a normal MRI which which looks like this this is the overall cerebellum and here you can see the in the dandy walker malformation the posterior fossa is becoming much more thin and this is how the cerebellum is looking at so the central part of the cerebellum is kind of messed up that means the vermis area is the one which is most affected and this is how the fluid accumulation look like anyway warm is area of the cerebellum is pretty important for motor coordination and it plays crucial role in balance and posture as well and histological findings of dandy walker malformation shows that there is an overall reduction in the foliation of the cerebellum but the most affected region is the flocculonodular lobe and the overall number of lobules are reduced in number so this is how it looks like in the normal and this is how it looks like in the dandy walker malformation so overall the inferior part of the worm is is hype it's undergoing hypoplasia so the diagnostic signatures of dandy walker malformation involves a signature known as the tail sign and this has been recently proposed based on current research so this is a 20 post coitus weak embryo which has a denti-walker malformation you can clearly see the posterior part of the cerebellum appears like a dog's tail and it's kind of like curved so this is the tail sign for the dandy walker malformation and it has been seen that out of the patients which are examined or interpreted with dandy walker malformation 75 percent of the patients show this kind of symptom and this is the latest research that talks about this and this kind of tail sign appears due to the reduced growth of the posterior varmis and it correlates with the failure of rhombic lip region to internalize in a particular cerebral development so rhombic lip is a germinal Zone which has stem cells for different cerebellar cell types so rhombic lip marked here in the red give rise to cell types like granule cells which are glutamateragic cells deep cerebellar nuclear cells or dcns and also it give rise to unipolar brush cells so quite a lot of different cell types in the cerebellum appears from this rhombic lip and it is speculated that rhombic lip is the origin of this particular disease and the problems are happening at the level of rhombic lip and the cells that comes out of the rhombically now dandy walker syndrome is pretty much uh pleiotropic basically symptom shows different type of involvement of genes and pathways also the phenotypic variability and diversity is quite massive you can see there are MRI from three patient and three of these patients shows different degree of severity when it comes to genetics Trisomy 18 Trisomy 13 21 and 9 are associated with Dandy Walker's malformation also the RNA sequencing experiment from the rhombic clip of dandy walker malformation patient reveals an interesting aspect there is a reduction in proliferation and the stemness related genes from the dandy walker malformation patient that explains why the rhombic lip is dysmorphic and undergoes atrophy now symptoms as mentioned before includes delayed motor Milestones hypotonia motor coordination defects or Ataxia also there could be other signatures like prominent occiput craniofacial abnormalities like cleft palate upward slanting of the eyes Etc but these are variable and not present in all the patients treatment and management includes incorporation of the VP shunt or Ventra peritoneal shunt requires a surgery for this kind of implantation this would drain the excess fluid to the peritoneum and that's how the intracranial pressure would be balanced other supportive treatment includes physiotherapy speech therapy and supportive medications so I hope this video was useful if you like this video give it a big thumbs up don't forget to like share and subscribe support our Channel using super thanks see you in next video