Head titubation and irritability as early symptoms of Joubert syndrome with a homozygous NPHP1 variant |
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Affiliation: | 1. Department of Neonatology, Miyagi Children’s Hospital, Japan;2. Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Japan;3. Department of Pediatric Neurology, Miyagi Children’s Hospital, Japan |
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Abstract: | 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. |
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Keywords: | Head titubation Irritability Joubert syndrome Neonate |
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