RT Book, Section
A1 Bissonnette, Bruno
A1 Luginbuehl, Igor
A1 Engelhardt, Thomas
SR Print(0)
ID 1164074334
T1 Joubert Syndrome
T2 Syndromes: Rapid Recognition and Perioperative Implications, 2e
YR 2019
FD 2019
PB McGraw-Hill Education
PP New York, NY
SN 9781259861789
LK accesspediatrics.mhmedical.com/content.aspx?aid=1164074334
RD 2024/04/25
AB A  genetic  disorder  characterized  by  cerebral  malformations  (vermis  and  brain  stem)  resulting  in  severe  coordination  (ataxia)  and  breathing  (sleep  apnea,  hyperpnea)  disorders.  This  medical  condition  is  present  during  infancy  and  is  characterized  by  cerebellar  ataxia,  hyperpnea,  sleep  apnea,  abnormal  eye,  tongue  movements,  and  myotonia.  There  is  a  significant  range  of  mental  retardation.  The  presence  of  the  “molar  tooth  sign”  found  in  the  MRI,  in  which  the  cerebellar  vermis  of  the  brain  is  absent  or  underdeveloped  whereas  the  brain  stem  is  abnormal,  is  very  informative  and  the  Joubert  Syndrome  must  be  considered  in  the  differential  diagnosis.