Joubert syndrome: clinical and polygraphic observations in a further case.
To our knowledge, only 10 cases of Joubert syndrome have been published so far. In this paper, we describe the clinical, radiological (computerized tomography) and polygraphic findings in an additional patient. The female presented here is the product of consanguineous parents and a sibling of a previously reported infant. In addition to the well-known episodic tachypnea in an awake state, representing the clinical hallmark of this syndrome, this child also had bouts of tachypnea while asleep. Interestingly enough, these were confined only to non-REM sleep.
D002524:Cerebellar Ataxia / Q000175:diagnosis* / Q000235:genetics; D002531:Cerebellum / Q000002:abnormalities*; D005133:Eye Movements; D005260:Female; D006801:Humans; D007223:Infant; D008607:Intellectual Disability / Q000175:diagnosis* / Q000235:genetics; D010375:Pedigree; D012120:Respiration Disorders / Q000175:diagnosis* / Q000235:genetics; D012891:Sleep Apnea Syndromes / Q000175:diagnosis; D013577:Syndrome; D014057:Tomography, X-Ray Computed