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Head titubation and irritability as early symptoms of Joubert syndrome with a homozygous NPHP1 variant
Yoshie Sakurai1, Tatsuya Watanabe1, Yuki Abe1
1Department of Neonatology, Miyagi Children's Hospital, Japan.
Background:
Joubert 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 Report:
We 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.
Conclusion:
Irritability with head titubation may be an early clinical clue for the clinician to suspect Joubert syndrome.
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