Breathing instability in Joubert syndrome.

摘要

Joubert syndrome (JS) is a autosomal-recessive disorder characterized by hypotonia, ataxia, developmental delay, disordered breathing, and abnormal ocular movements.1 The pathognomonic MRI hallmark of JS is the "molar tooth sign" (MTS), resulting from thickening and horizontalization of superior cerebellar peduncles and prominence of the interpe-duncular fossa.A 16-year-old girl was referred for episodes of subjective feeling of "lack of air" mainly recurring during handling or stress and diagnosed as panic attacks. Neurological examination revealed prominent chin, ogival palate, dysphonia, dysmetria, general hypotonia, severe ataxic gaitb and mild mental retardation.