Learning more about Joubert syndrome and related disorders

Congress:

ECR 2023

Poster Number:

C-10074

Type:

Educational Exhibit

Keywords:

CNS, MR, Diagnostic procedure, Genetic defects

Authors:

A. Al Orf, K. B. Waheed, M. Albassam, A. A. Alshehri

DOI:

10.26044/ecr2023/C-10074

DOI-Link:

https://dx.doi.org/10.26044/ecr2023/C-10074

Findings and procedure details

Out of 12 genetically proven JS cases, most were females (9/12), and nearly all presented with hypotonia, ataxia, developmental delay, intellectual impairment, and speech disorders. 5/12 children presented at age of 1 or below. The molar tooth sign was seen in 10/12 cases [Table 1]. Most of the cases were found associated with consanguineous marriage

Fig 1: Fig.1. Molar tooth sign demonstrated on axial T2 weighted MR image.

Fig 2: Table 1. Clinical and imaging characteristics of diagnosed JS patients.