Joubert syndrome labeled as hypotonic cerebral palsy

Joubert syndrome (JS) is a rare autosomal recessive disorder with cerebellar vermis hypoplasia and complex brainstem malformation. The diagnosis of cases can be difficult as the presentation can be similar to cases of cerebral palsy. We present a case of JS in an 18-month-old girl who presented to p...

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Autores principales: Dekair, Lubna H., Kamel, Hussein, El-Bashir, Haitham O.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Riyadh : Armed Forces Hospital 2014
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4727659/
https://www.ncbi.nlm.nih.gov/pubmed/24983287
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author Dekair, Lubna H.
Kamel, Hussein
El-Bashir, Haitham O.
author_facet Dekair, Lubna H.
Kamel, Hussein
El-Bashir, Haitham O.
author_sort Dekair, Lubna H.
collection PubMed
description Joubert syndrome (JS) is a rare autosomal recessive disorder with cerebellar vermis hypoplasia and complex brainstem malformation. The diagnosis of cases can be difficult as the presentation can be similar to cases of cerebral palsy. We present a case of JS in an 18-month-old girl who presented to pediatric rehabilitation with a diagnosis of hypotonic cerebral palsy and abnormal eye movements. The brain MRI confirmed the typical brain malformations.
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spelling pubmed-47276592016-02-02 Joubert syndrome labeled as hypotonic cerebral palsy Dekair, Lubna H. Kamel, Hussein El-Bashir, Haitham O. Neurosciences (Riyadh) Case Report Joubert syndrome (JS) is a rare autosomal recessive disorder with cerebellar vermis hypoplasia and complex brainstem malformation. The diagnosis of cases can be difficult as the presentation can be similar to cases of cerebral palsy. We present a case of JS in an 18-month-old girl who presented to pediatric rehabilitation with a diagnosis of hypotonic cerebral palsy and abnormal eye movements. The brain MRI confirmed the typical brain malformations. Riyadh : Armed Forces Hospital 2014-07 /pmc/articles/PMC4727659/ /pubmed/24983287 Text en Copyright: © Neurosciences Neurosciences is an Open Access journal and articles published are distributed under the terms of the Creative Commons Attribution-NonCommercial License (CC BY-NC). Readers may copy, distribute, and display the work for non-commercial purposes with the proper citation of the original work.
spellingShingle Case Report
Dekair, Lubna H.
Kamel, Hussein
El-Bashir, Haitham O.
Joubert syndrome labeled as hypotonic cerebral palsy
title Joubert syndrome labeled as hypotonic cerebral palsy
title_full Joubert syndrome labeled as hypotonic cerebral palsy
title_fullStr Joubert syndrome labeled as hypotonic cerebral palsy
title_full_unstemmed Joubert syndrome labeled as hypotonic cerebral palsy
title_short Joubert syndrome labeled as hypotonic cerebral palsy
title_sort joubert syndrome labeled as hypotonic cerebral palsy
topic Case Report
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4727659/
https://www.ncbi.nlm.nih.gov/pubmed/24983287
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AT kamelhussein joubertsyndromelabeledashypotoniccerebralpalsy
AT elbashirhaithamo joubertsyndromelabeledashypotoniccerebralpalsy

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