Vol. 23 - Num. 90
Clinical Reviews in Digestive Diseases
Joubert syndrome
Sara Marquina Cintoraa, Ariadna Sánchez Suáreza, Myriam Herrero Álvarezb, Iván Carabaño Aguadoc, Elisa Aguirre Pascuald, Enrique Salcedo Lobatoc, Enrique Medina Benítezc
aServicio de Pediatría. Hospital Universitario de Getafe. Getafe. Madrid. España.
bServicio de Pediatría. Hospital Universitario Rey Juan Carlos. Móstoles. Madrid. España.
cSección de Gastroenterología, Hepatología y Nutrición Pediátrica. Servicio de Pediatría. Hospital Universitario 12 de Octubre. Madrid. España.
dSección de Radiología Infantil. Servicio de Radiodiagnóstico. Hospital Universitario 12 de Octubre. Madrid. España.
Correspondence: S Marquina. E-mail: sara.marquina5@gmail.com
Reference of this article: Marquina Cintora S, Sánchez Suárez A, Herrero Álvarez M, Carabaño Aguado I, Aguirre Pascual E, Salcedo Lobato E, et al. Joubert syndrome. Rev Pediatr Aten Primaria. 2021;23:191-4.
Published in Internet: 22-06-2021 - Visits: 26612
Abstract
Joubert syndrome is a rare neurological disorder. It is characterized by the absence or underdevelopment of the cerebellar vermis and a malformed brain stem. These abnormalities cause signs and symptoms that include abnormal breathing patterns, hypotonia and development delay. It may associate kidney, liver or eye abnormalities. Treatment is supportive and depends on the symptoms in each person. This is why early diagnosis is so important, to offer a multidisciplinary strategy for improving the prognosis and quality of life.
Keywords
● Cerebellum ● Cystic fibrosis ● Elastography ● Joubert
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