全小脑发育不全：一例极为罕见病症的病例报告

Total cerebellar agenesis: A case report of a very rare condition.

作者信息

Bouanani Zineb, Rhalem Insaf, Lahnine Ghita, Akammar Amal, Bouardi Nizar El, Alami Badreddine, Lamrani Youssef Alaoui, Maaroufi Mustapha, Boubbou Meryem

机构信息

University of Sidi Mohammed Benabdallah, Radiology Department, CHU Hassan II, Fès, Morocco.

出版信息

Radiol Case Rep. 2024 Aug 6;19(10):4569-4571. doi: 10.1016/j.radcr.2024.07.059. eCollection 2024 Oct.

DOI:10.1016/j.radcr.2024.07.059

PMID:39220794

原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC11362815/

Abstract

Complete cerebellar agenesis is an extremely rare condition characterized by the complete absence of cerebellar tissue. Only a small number of cases have been reported, with varying motor and cognitive deficits. We describe a case of an 11-month-old baby with developmental delay, whose CT scan evaluation showed the complete absence of the cerebellum with no other associated cerebral malformation.

摘要

完全性小脑发育不全是一种极为罕见的病症，其特征为小脑组织完全缺失。仅有少数病例被报道，存在不同程度的运动和认知缺陷。我们描述了一例11个月大发育迟缓婴儿的病例，其CT扫描评估显示小脑完全缺失，且无其他相关脑畸形。