Joubert Syndrome and Biot's Respiration Misdiagnosed as Epilepsy

Abstract

190 Joubert syndrome (JS) is a rare ciliopathy characterized by hypotonia, ataxia, psychomotor delay and irregular breathing patterns.1,2 The disease is genetically heterogeneous with more than 35 genes currently known to cause it when mutated.3 The pathognomonic feature of JS is a distinctive cerebellar and brainstem malformation on axial cranial magnetic resonance imaging (MRI) known as the “Molar Tooth Sign” (MTS) (Figure 1).4 JS may be accompanied by the additional systemic involvements, and classified as follows: Pure JS (classical form), JS with ocular defect (JS-O), JS with renal defect (JS-R), JS with oculorenal defects (JS-OR), JS with hepatic defect (JS-H), JS with orofaciodigital defects (JS-OFD).1,2,5 Although the epileptic seizures are not common in JS, an approximate prevalence of 10% was reported in a case series.6 Sleep-related problems are frequently overJoubert Syndrome and Biot’s Respiration Misdiagnosed as Epilepsy