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An Atypical Presentation of Joubert Syndrome Due to a Novel Mutation in ZNF423 Gene

Joubert syndrome is a rare brain malformation characterized by the absence or underdevelopment of the cerebellar vermis. Infants with Joubert syndrome usually present with hypotonia, developmental delay, oculomotor apraxia, and respiratory abnormalities. Seizures in Joubert syndrome are not uncommon...

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Autores principales: Sivathanu, Deepika, Vetrichelvan, Dhanarathnamoorthy, Balakrishnan, Umamaheswari, Manokaran, Ranjith Kumar
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Wolters Kluwer - Medknow 2020
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7847091/
https://www.ncbi.nlm.nih.gov/pubmed/33531950
http://dx.doi.org/10.4103/jpn.JPN_168_19
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author Sivathanu, Deepika
Vetrichelvan, Dhanarathnamoorthy
Balakrishnan, Umamaheswari
Manokaran, Ranjith Kumar
author_facet Sivathanu, Deepika
Vetrichelvan, Dhanarathnamoorthy
Balakrishnan, Umamaheswari
Manokaran, Ranjith Kumar
author_sort Sivathanu, Deepika
collection PubMed
description Joubert syndrome is a rare brain malformation characterized by the absence or underdevelopment of the cerebellar vermis. Infants with Joubert syndrome usually present with hypotonia, developmental delay, oculomotor apraxia, and respiratory abnormalities. Seizures in Joubert syndrome are not uncommon. Infantile spasms as presentation are hitherto unreported. Here we present a rare case of an 8-month-old infant diagnosed as Joubert syndrome with ZNF423 mutation who presented with West syndrome. Early diagnosis and appropriate management of the child effectively reduced the spasms.
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spelling pubmed-78470912021-02-01 An Atypical Presentation of Joubert Syndrome Due to a Novel Mutation in ZNF423 Gene Sivathanu, Deepika Vetrichelvan, Dhanarathnamoorthy Balakrishnan, Umamaheswari Manokaran, Ranjith Kumar J Pediatr Neurosci Case Report Joubert syndrome is a rare brain malformation characterized by the absence or underdevelopment of the cerebellar vermis. Infants with Joubert syndrome usually present with hypotonia, developmental delay, oculomotor apraxia, and respiratory abnormalities. Seizures in Joubert syndrome are not uncommon. Infantile spasms as presentation are hitherto unreported. Here we present a rare case of an 8-month-old infant diagnosed as Joubert syndrome with ZNF423 mutation who presented with West syndrome. Early diagnosis and appropriate management of the child effectively reduced the spasms. Wolters Kluwer - Medknow 2020 2020-11-06 /pmc/articles/PMC7847091/ /pubmed/33531950 http://dx.doi.org/10.4103/jpn.JPN_168_19 Text en Copyright: © 2020 Journal of Pediatric Neurosciences http://creativecommons.org/licenses/by-nc-sa/4.0 This is an open access journal, and articles are distributed under the terms of the Creative Commons Attribution-NonCommercial-ShareAlike 4.0 License, which allows others to remix, tweak, and build upon the work non-commercially, as long as appropriate credit is given and the new creations are licensed under the identical terms.
spellingShingle Case Report
Sivathanu, Deepika
Vetrichelvan, Dhanarathnamoorthy
Balakrishnan, Umamaheswari
Manokaran, Ranjith Kumar
An Atypical Presentation of Joubert Syndrome Due to a Novel Mutation in ZNF423 Gene
title An Atypical Presentation of Joubert Syndrome Due to a Novel Mutation in ZNF423 Gene
title_full An Atypical Presentation of Joubert Syndrome Due to a Novel Mutation in ZNF423 Gene
title_fullStr An Atypical Presentation of Joubert Syndrome Due to a Novel Mutation in ZNF423 Gene
title_full_unstemmed An Atypical Presentation of Joubert Syndrome Due to a Novel Mutation in ZNF423 Gene
title_short An Atypical Presentation of Joubert Syndrome Due to a Novel Mutation in ZNF423 Gene
title_sort atypical presentation of joubert syndrome due to a novel mutation in znf423 gene
topic Case Report
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7847091/
https://www.ncbi.nlm.nih.gov/pubmed/33531950
http://dx.doi.org/10.4103/jpn.JPN_168_19
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