%0 Case Reports
%T Radiological features of Joubert syndrome and clinical case presentation.
%A Montero Torres JA
%A Flores Escobar B
%A Guzman Martinez J
%A Barrera Martínez RA
%A Hernández Cortez FP
%J Radiol Case Rep
%V 19
%N 10
%D 2024 Oct
%M 39101024
暂无%R 10.1016/j.radcr.2024.06.065
%X Joubert Syndrome, manifests in a spectrum of neurological symptoms. This case describes a 7-year-old girl with perinatal complications, and subsequent neurodevelopmental challenges. An MRI confirmed the diagnosis of Joubert syndrome, with the distinctive "molar tooth sign" being a key imaging characteristic. Approximately 25% of cases exhibit nephronophthisis, impacting kidney function, further complicating the clinical picture. Diagnosis relies on imaging and management necessitates a multidisciplinary approach, addressing symptoms and complications, with prognosis linked to the presence of organic disease. The case emphasizes the significance of a multidisciplinary strategy, including genetic counseling, and underscores the diverse manifestations of this syndrome. Prenatal identification through ultrasound and MRI plays a crucial role in diagnosing and treating this rare condition.