TITLE:
Cerebellar Agenesis: A Very Rare Abnormality of the Posterior Fossa
AUTHORS:
Najwa Loukili, Amal Benchine, Hanae Chimi, Fatima Hassouni, Mounia El Yousfi, Samir Bargach
KEYWORDS:
Agenesis Cerebellar, Cerebellum, Cranial Fossa Posterior, Prenatal Diagnosis, Ultrasound
JOURNAL NAME:
Open Access Library Journal,
Vol.11 No.8,
August
26,
2024
ABSTRACT: Introduction: Cerebellar agenesis is an extremely rare condition. It is a descriptive term that implies complete absence of the cerebellum. The posterior fossa includes the brainstem and the cerebellum, the cerebellum plays a significant role in actively controlling body movements, particularly in maintaining balance and posture, and also it plays a role in regulating our emotions. Advanced neuroimaging techniques are essential for diagnosing morphological abnormalities of the cerebellum. An accurate diagnosis is crucial for early treatment, prognosis, and providing guidance to affected children and their families. Materials and methods: In this review, we present the case of a woman who is 15 weeks pregnant, who was suspected of having cerebellar agenesis with significant hydrocephalus and who was managed at the gynecology department of the Souissi Hospital of Rabat during the period from January 16th to January 23th, 2024. Results: Our case concerned a 35-year-old patient, who was 15 weeks pregnant, primigravida, without any medical or surgical history. The obstetrical examination was normal. Her most recent ultrasound showed a biparietal diameter (BPD) of 48.6 mm, which is at the 100th percentile, and a cranial circumference of 180 mm, also at the 100th percentile. The coronal sections revealed a complete absence of the cerebellum. We therefore deduced from this examination a cerebellar agenesis with an important hydrocephalus compressing the brain parenchyma above and below tentorial with a facial dysmorphia. The woman opted for medical termination of pregnancy. Conclusion: Cerebellar agenesis remains a challenging diagnosis due to its small size and the embryological changes this structure undergoes. Prenatal imaging (ultrasound and MRI) allows for diagnosing this anomaly, although a definitive diagnosis cannot be guaranteed. The prognosis is also complex, ranging from normal development to death.