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Radiological features of Joubert syndrome and clinical case presentation.
Montero Torres, Jorge Ariel; Flores Escobar, Bruno; Guzman Martinez, Julian; Barrera Martínez, Ricardo Alfonso; Hernández Cortez, Frida Priscila.
Afiliación
  • Montero Torres JA; Departamento de Radiología e Imagen, Hospital de Especialidades, Centro Medico Nacional del Bajío, Instituto Mexicano del Seguro Social, León, Guanajuato, México.
  • Flores Escobar B; Departamento de Radiología e Imagen, Hospital de Especialidades, Centro Medico Nacional del Bajío, Instituto Mexicano del Seguro Social, León, Guanajuato, México.
  • Guzman Martinez J; Departamento de Pediatria, SSA Hospital de Especialidades Pediatricas, Tuxtla Gutierrez, Chiapas. Mexico.
  • Barrera Martínez RA; Departamento de Pediatria, Tuxtla Gutierrez, Chiapas, Mexico.
  • Hernández Cortez FP; Departamento de Pediatria, SSA Hospital de Especialidades Pediatricas, Tuxtla Gutierrez, Chiapas. Mexico.
Radiol Case Rep ; 19(10): 4167-4172, 2024 Oct.
Article en En | MEDLINE | ID: mdl-39101024
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.
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Idioma: En Revista: Radiol Case Rep Año: 2024 Tipo del documento: Article Pais de publicación: Países Bajos
Texto completo
Añadir a Mi BVS
Imprimir
XML
PubMed Links
Buscar en Google

Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Idioma: En Revista: Radiol Case Rep Año: 2024 Tipo del documento: Article Pais de publicación: Países Bajos