Department of Pediatrics, Division of Neonatal-Perinatal Medicine, Metropolitan Hospital Center, New York, NY, USA.
J Neonatal Perinatal Med. 2020;13(4):587-591. doi: 10.3233/NPM-180144.
Joubert syndrome is a rare neurological manifestation usually present in late infancy or early childhood with characteristic episodes of abnormal breathing pattern along with the neurological and other systemic involvement.We report a case of confirmed Joubert syndrome present in the immediate neonatal period with isolated spells of oxygen desaturations not accompanied by the classically described breathing pattern and absent neurological symptoms causing delay in the diagnosis. Isolated oxygen desaturation episodes could be a presenting manifestation of Joubert syndrome in a neonatal period.
杰特伯综合征是一种罕见的神经表现，通常在婴儿后期或幼儿期出现，伴有特征性的异常呼吸模式，以及神经和其他系统的受累。我们报告了一例确诊的杰特伯综合征病例，该病例在新生儿期即出现，仅表现为孤立性的血氧饱和度下降发作，不伴有经典描述的呼吸模式，且无神经症状，导致诊断延迟。孤立性的血氧饱和度下降发作可能是新生儿期杰特伯综合征的一种表现形式。
