2024/12/31 by Siala, N., Azzabi O, Dridi Y +7
#4Asyndrome #Allgrove #achalasia #achalasie #cardiomyotomie #cardiomyotomy #syndromedes4A
paper · doi:10.71566/pist-rmp-194846
AllgrovesyndromealsocalledtripleAisarareautosomalrecessivediseaseassociatingachalasia,alacrimiaand Addisondisease. Whenassociatedtoneurologicalmanifestationsordysautonomia,itiscalled«4Asyndrome». Wereportthecaseofatenyearsoldboy,bornofanon-consanguineousmarriage,whosesisterpresentsnon exploredalacrimia,havinglearningdifficulties,whowashospitalizedtoexploremelanodermiawithwalkingdif- ficulties. ThehistoryandthephysicalexaminationL’anamnèseainsiquel’examenphysiquenoushaveallowed toevokethe4Asyndrome. TheSchirmertestshowedalacrimia. Thecortisolratewasfallenwithaveryhigh ACTH rate. The esophageal barium swallowshowed ahypotonic esophagus. Esophageal manometryconfir- medachalasia. Theelectromyogramshowedamotorneurogenicimpairment. ThecerebralRMIwasnormal. Weprescribedsubstitutiontherapyfortheadrenalfailure,artificialtears,andheunderwentcardiomyotomyfor hisachalasia. Theoutcomewasfavourablewitha16monthsofhindsight.