1.
Mov Disord
; 37(4): 879-881, 2022 04.
Artigo
em Inglês
| MEDLINE
| ID: mdl-35142387
2.
Pract Neurol
; 22(3): 213-215, 2022 Jun.
Artigo
em Inglês
| MEDLINE
| ID: mdl-34969826
RESUMO
Allgrove syndrome is an autosomal recessive disease mostly caused by mutations in the AAAS gene. It has variable clinical features but its cardinal features comprise the triad of achalasia, alacrimia and adrenal insufficiency. It typically develops during the first decade of life, but some cases have second and third decades onset. We describe a 25-year-old woman with Allgrove syndrome who had progressive amyotrophy, achalasia, dry eyes and adrenal insufficiency since childhood. Awareness of its neurological manifestations and multisystem features helps to shorten the time for diagnosis and allow appropriate symptomatic treatment.
Assuntos
Insuficiência Adrenal , Acalasia Esofágica , Insuficiência Adrenal/complicações , Insuficiência Adrenal/diagnóstico , Insuficiência Adrenal/genética , Adulto , Criança , Acalasia Esofágica/complicações , Acalasia Esofágica/diagnóstico , Acalasia Esofágica/genética , Feminino , Humanos , Mutação
3.
Ophthalmol Retina
; 3(8): 709, 2019 08.
Artigo
em Inglês
| MEDLINE
| ID: mdl-31383398