Reversible hyperkinesia in a patient with autoimmune polyglandular syndrome type I

1993 ◽  
Vol 71 (11) ◽  
Author(s):  
T. Baumert ◽  
G. Kleber ◽  
J. Schwarz ◽  
A. St�bler ◽  
R. Lamerz ◽  
...  
2021 ◽  
pp. 1-3
Author(s):  
Benfaddoul O ◽  
◽  
Zouita B ◽  
El azzouzi B ◽  
Basraoui N ◽  
...  

Autoimmune polyendocrinopathy ectodermal dystrophy (APECED), also known as autoimmune polyglandular syndrome type I (APS I), is an uncommon, but debilitating autosomal recessive disease caused by mutations in the autoimmune regulator (AIRE), It is characterized by a broad and diverse clinical spectrum which can lead to severe metabolic alterations and eventually life-threatening events. Hypoparathyroidism is one of the major criteria for clinical diagnosis, in addition to chronic mucocutaneous candidiasis and autoimmune adrenal insufficiency. This component is responsible for the forming of brain calcifications which tend to have a characteristic predilection for the basal ganglia. In this article, we report an additional case to the literature and provide a literature review of the expanding radiological spectrum of this syndrome


2001 ◽  
Vol 344 (4) ◽  
pp. 270-274 ◽  
Author(s):  
Christoph Högenauer ◽  
Richard L. Meyer ◽  
George J. Netto ◽  
Diana Bell ◽  
Katherine H. Little ◽  
...  

2009 ◽  
Vol 513 (1) ◽  
pp. 1-20 ◽  
Author(s):  
Sergueï O. Fetissov ◽  
Sophie Bensing ◽  
Jan Mulder ◽  
Erwan Le Maitre ◽  
Anna-Lena Hulting ◽  
...  

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