{Reference Type}: Case Reports
{Title}: Radiological features of Joubert syndrome and clinical case presentation.
{Author}: Montero Torres JA;Flores Escobar B;Guzman Martinez J;Barrera Martínez RA;Hernández Cortez FP;
{Journal}: Radiol Case Rep
{Volume}: 19
{Issue}: 10
{Year}: 2024 Oct
暂无{DOI}: 10.1016/j.radcr.2024.06.065
{Abstract}: 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.