Maquet Justine, Vanlinthout Christine, Desprechins Brigitte, Vandenbossche Gautier
Service de Radiologie, Imagerie médicale, CHU Liège, Belgique.
Service de Gynécologie-Obstétrique, CHU Liège, Belgique.
Rev Med Liege. 2023 Jul;78(7-8):407-410.
Rhombencephalosynapsis (RS) is a rare cerebellar malformation characterized by the association of partial or total vermis agenesis and fusion of the cerebellar hemispheres. This malformation is often associated with supratentorial cerebral abnormalities and more rarely with extra-cranial abnormalities. The severity of the clinical manifestations and the prognosis of RS depend on the findings of the posterior fossa and the associated anomalies. This clinical case presents an isolated complete RS, documented by antenatal ultrasound, fetal and postnatal/mortem magnetic resonance imaging (MRI) and pathological examination. A RS should be suspected on antenatal morphological ultrasound in case of reduction in size of the posterior fossa and in the absence of vermis. Fetal MRI is the imaging modality of choice to confirm the diagnosis. In the event of medical termination of pregnancy, the autopsy is rarely accepted by the parents, limiting postnatal investigations. This is why postnatal/postmortem MRI can prove to be an alternative to confirm and better document this rare pathology. Finally, multidisciplinary collaboration is essential to make the diagnosis and to ensure the best care.
菱脑融合（RS）是一种罕见的小脑畸形，其特征是部分或完全小脑蚓部发育不全以及小脑半球融合。这种畸形常与幕上脑异常相关，较少与颅外异常相关。RS的临床表现严重程度和预后取决于后颅窝的检查结果及相关异常情况。本临床病例呈现了一例孤立性完全RS，通过产前超声、胎儿及产后/尸检磁共振成像（MRI）以及病理检查得以证实。如果后颅窝变小且无蚓部，产前形态学超声检查时应怀疑RS。胎儿MRI是确诊的首选成像方式。如果进行医学引产，尸检很少能被父母接受，从而限制了产后检查。这就是为什么产后/尸检MRI可作为一种替代方法来证实并更好地记录这种罕见病理情况。最后，多学科协作对于做出诊断和确保最佳治疗至关重要。
