Breathing instability in Joubert syndrome

Abstract

A 16-year-old girl was referred for episodes of sub-jective feeling of ‘‘lack of air’’ mainly recurring duringhandling or stress and diagnosed as panic attacks.Neurological examination revealed prominent chin,ogival palate, dysphonia, dysmetria, general hypoto-nia, severe ataxic gaitb and mild mental retardation. Acheck for heart defects was negative. Brain MRIshowed vermian aplasia and a dilated fourth ventricle,that is, the MTS (Fig. 1A). Videopolysomnography(VPSG) gave away breathing instability to be ‘‘ataxic’’in shape, more than periodic, and consisting in repeti-tive but not predictable tachypnea, followed by centralapnea, recurring during wake, light NREM, and REMsleep (Fig. 1B), not associated with other signs ofrespiratory distress and suggesting a rostrocaudaldisorganization of brain stem respiratory rhythmgenerator(s).Our patient fulfilled the criteria for pure JS.