关键词： Joubert syndrome cerebellum cyanosis hyperapnea isolated apnea

Mesh ： Abnormalities, Multiple / diagnosis physiopathology psychology Analysis of Variance Brain / diagnostic imaging Cerebellum / abnormalities physiopathology Developmental Disabilities / diagnosis physiopathology psychology Diagnosis, Differential Eye Abnormalities / diagnosis physiopathology psychology Eye Movement Measurements Humans Hypoxia / diagnosis Infant, Newborn Kidney Diseases, Cystic / diagnosis physiopathology psychology Male Neurologic Examination / methods Prognosis Retina / abnormalities physiopathology Severity of Illness Index Symptom Assessment / methods Tachypnea / diagnosis

来  源：   DOI：10.3233/NPM-180144   PDF(Sci-hub)

Abstract：
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.
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