Open AccessAn atypical presentation of Joubert syndrome due to a novel mutation in ZNF423 gene
Author(s) -
Deepika Sivathanu,
Dhanarathnamoorthy Vetrichelvan,
Umamaheswari Balakrishnan,
Ranjith Kumar Manokaran
Publication year - 2020
Publication title -
journal of pediatric neurosciences
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.247
H-Index - 18
eISSN - 1998-3948
pISSN - 1817-1745
DOI - 10.4103/jpn.jpn_168_19
Subject(s) - joubert syndrome , hypotonia , medicine , pediatrics , presentation (obstetrics) , cerebellar vermis , ciliopathy , cerebellum , surgery , genetics , biology , gene , phenotype
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.