Answer for BIR CoW 02 Jan 2022
Dandy walker malformation with hydrocephalus
Findings
posterior fossa with cystic dilatation of fourth ventricle extending posteriorly, seen displacing the bilateral cerebellar hemispheres laterally associated with Vermian hypoplasia, and cephalad rotation of vermian remnant Torcula lamboid inversion noted Dilatation of bilateral lateral , 3rd and 4th ventricle. Tip of right VP shunt seen within the 4th ventricle.
Discussion
Dandy-Walker Malformation is the most common posterior fossa malformation and typically occurs only sporadically, with a low overall risk of recurrence (1%–5%). DWM may be isolated or may occur as part of chromosomal anomalies or well-defined Mendelian disorders such as Ritscher-Schinzel or craniocerebello-cardiac syndrome In addition, rare mutations in six genes (ZIC1, ZIC4, FOXC1, FGF17, LAMC1, and NID1) have been found in a few patients with DWM. On the basis of the function of these genes, DWM may represent a complex disruption of the interaction between the developing cerebellum and the developing posterior fossa mesenchyme and its derivates. The majority of patients with DWM present before 1 year of age with signs and symptoms of increased intracranial pressure . Macrocephaly is the most common manifestation, affecting 90%–100% of children during the first months of life . Systemic involvement (eg, cardiovascular, urogenital, or skeletal anomalies) may be seen in DWM, is associated with defined syndromes, and also influences the prognosis (poorer outcome). The key neuroimaging features of DWM are hypoplasia (agenesis) of the cerebellar vermis (whose inferior portion is typically affected, possibly in combination with its superior portion), which is elevated and upwardly rotated dilatation of the cystic-appearing fourth ventricle, which consequently may fill the entire posterior fossa The cerebellar hemispheres are typically displaced anterolaterally, but their size and morphology are usually normal . The posterior fossa is usually enlarged, and the tentorium as well as the torcular and transverse sinuses are elevated.
Findings
posterior fossa with cystic dilatation of fourth ventricle extending posteriorly, seen displacing the bilateral cerebellar hemispheres laterally associated with Vermian hypoplasia, and cephalad rotation of vermian remnant Torcula lamboid inversion noted Dilatation of bilateral lateral , 3rd and 4th ventricle. Tip of right VP shunt seen within the 4th ventricle.
Discussion
Dandy-Walker Malformation is the most common posterior fossa malformation and typically occurs only sporadically, with a low overall risk of recurrence (1%–5%). DWM may be isolated or may occur as part of chromosomal anomalies or well-defined Mendelian disorders such as Ritscher-Schinzel or craniocerebello-cardiac syndrome In addition, rare mutations in six genes (ZIC1, ZIC4, FOXC1, FGF17, LAMC1, and NID1) have been found in a few patients with DWM. On the basis of the function of these genes, DWM may represent a complex disruption of the interaction between the developing cerebellum and the developing posterior fossa mesenchyme and its derivates. The majority of patients with DWM present before 1 year of age with signs and symptoms of increased intracranial pressure . Macrocephaly is the most common manifestation, affecting 90%–100% of children during the first months of life . Systemic involvement (eg, cardiovascular, urogenital, or skeletal anomalies) may be seen in DWM, is associated with defined syndromes, and also influences the prognosis (poorer outcome). The key neuroimaging features of DWM are hypoplasia (agenesis) of the cerebellar vermis (whose inferior portion is typically affected, possibly in combination with its superior portion), which is elevated and upwardly rotated dilatation of the cystic-appearing fourth ventricle, which consequently may fill the entire posterior fossa The cerebellar hemispheres are typically displaced anterolaterally, but their size and morphology are usually normal . The posterior fossa is usually enlarged, and the tentorium as well as the torcular and transverse sinuses are elevated.
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!