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.

中文翻译：

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具有纯合 NPHP1 变体的 Joubert 综合征的早期症状是头部抽搐和易怒

背景

Joubert 综合征是一种常染色体隐性遗传或 X 连锁遗传病，伴有小脑蚓部缺陷或发育不全、张力减退、眼部运动障碍和智力低下。在新生儿中，呼吸暂停和呼吸急促等呼吸问题是值得注意的。

案例报告

我们报告了一名患有纯合NPHP1变体的 Joubert 综合征患者，他的头部因易怒而颤抖，包括夸张的紧张不安和明显的 Morrow 反射，在出生后不久就出现了，没有新生儿呼吸问题。这些症状逐渐减轻并消失，直至 1 年。

结论

对头部的刺激可能是临床医生怀疑 Joubert 综合征的早期临床线索。