Head titubation and irritability as early symptoms of Joubert syndrome with a homozygous NPHP1 variant

BACKGROUNDJoubert syndrome is an autosomal recessive or X-linked genetic disease with a cerebellar vermis defect or hypoplasia, hypotonia, ocular dyskinesia, and mental retardation. In neonates, respiratory problems such as apnea and tachypnea are notable. CASE REPORTWe report a patient Joubert synd...

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Bibliographic Details
Published in:Brain & development 2021, Vol.43 (8), p.863-866
Main Authors: Sakurai, Yoshie, Watanabe, Tatsuya, Abe, Yuki, Nawa, Tatsuro, Uchida, Toshihiko, Aoi, Hiromi, Mizuguchi, Takeshi, Matsumoto, Naomichi, Haginoya, Kazuhiro
Format: Report
Language:English
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Summary:BACKGROUNDJoubert syndrome is an autosomal recessive or X-linked genetic disease with a cerebellar vermis defect or hypoplasia, hypotonia, ocular dyskinesia, and mental retardation. In neonates, respiratory problems such as apnea and tachypnea are notable. CASE REPORTWe report a patient Joubert syndrome with a homozygous NPHP1 variant, who had head titubation with irritability, including exaggerated jitteriness and a marked Morrow reflex appeared soon after birth without neonatal respiratory problems. These symptoms decreased gradually and disappeared until 1 year. CONCLUSIONIrritability with head titubation may be an early clinical clue for the clinician to suspect Joubert syndrome.
ISSN:1872-7131
DOI:10.1016/j.braindev.2021.04.011