[Joubert syndrome. Report of a new case and review of literature (author's transl)].
A two-month old male with episodic hyperpnea, facial hemispasms, abnormal eye movements and mental retardation is presented. Pneumoencephalography and C.T. showed an occipital encephalocele and partial defects of the cerebellar vermis. The case agrees with the few cases reported like Joubert syndrom" At present he is three years old. Episodic hyperpnea and facial hemispasms have disappeared but his motor and mental development is obviously retarded.
D000015:Abnormalities, Multiple; D002524:Cerebellar Ataxia / Q000150:complications*; D006801:Humans; D007231:Infant, Newborn; D008607:Intellectual Disability / Q000150:complications*; D008297:Male; D008588:Meningocele / Q000150:complications; D013577:Syndrome; D014057:Tomography, X-Ray Computed
Síndrome de Joubert. Estudio de un nuevo caso y revisión de la literatura.