Cri-du-Chat Syndrome: Probable Relationship Between The CdCS And Blake’s Pouch Cyst

Purpose: The goal is to establish a relationship between Blake`s pouch cyst and Cri-Du-Chat syndrome. This association has not been reported previously.

Methods: Brain MRI study have been done for a 1.3 years old female with Cri-du-chat syndrome at our institution. Have shown mainly brainstem hypoplasia with multiple other pathologic findings which the most of them have been reported in similar cases as well as previous reports of Cri-du-chat syndrome. The most striking finding, which had not been reported previously, was widening of the foramen magendie present together with the high position of the anterior tentorium suggested for Blake`s pouch cyst.

We found nine publications about the Cri-du-chat syndrome between the years 1993 and 2020. Which included eight cases reports and one review (included 14 reported cases), and only nine patients were illustrated by MRI study.

Results: We re-evaluated the MRI studies, and from 10 MRI illustrated cases (including the case we present) we found BP signs in four cases out of 10 (40%).

Conclusions: The present of Blake`s pouch cyst in Cri-Du-Chat has not been reported previously. Considering the limits due to the low number of patients evaluated, we can nonetheless speculate that Blake`s pouch cyst is associated with cri-du-chat syndrome. Further multicenter studies examining and more MRI cases will be necessary to deepen the correlation.