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 CASE REPORT
Year : 2020  |  Volume : 15  |  Issue : 3  |  Page : 294-296

An atypical presentation of Joubert syndrome due to a novel mutation in ZNF423 gene


1 Department of PaediatricsSri Ramachandra Institute of Higher Education and Research, Chennai, Tamil Nadu, India
2 Department of NeonatologySri Ramachandra Institute of Higher Education and Research, Chennai, Tamil Nadu, India
3 Division of Paediatric Neurology, Department of Neurology, Sri Ramachandra Institute of Higher Education and Research, Chennai, Tamil Nadu, India

Correspondence Address:
Dr. Ranjith Kumar Manokaran
Division of Paediatric Neurology, Department of Neurology, Sri Ramachandra Institute of Higher Education and Research, Porur, Chennai, Tamil Nadu.
India
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Source of Support: None, Conflict of Interest: None


DOI: 10.4103/jpn.JPN_168_19

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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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