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

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.