A variable presentation of Joubert syndrome: Case report and a brief review

J Neonatal Perinatal Med. 2020;13(4):587-591. doi: 10.3233/NPM-180144.

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.

Keywords: Joubert syndrome; cerebellum; cyanosis; hyperapnea; isolated apnea.

MeSH terms

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

Supplementary concepts

  • Agenesis of Cerebellar Vermis