1.
J Pediatr Neurosci
; 15(3): 294-296, 2020.
Article
in English
| MEDLINE
| ID: mdl-33531950
ABSTRACT
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.
2.
BMJ Case Rep
; 20182018 Sep 14.
Article
in English
| MEDLINE
| ID: mdl-30217806