Cardiopulmonary arrest in a patient with delayed diagnosis of immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome.
We present the case of a 21-year-old male patient with a history of autoimmune nephritis, peripheral eosinophilia, eosinophilic esophagitis, and enteropathy who developed subacute worsening cardiomyopathy with systolic dysfunction. Diagnostic studies revealed a one-codon deletion in the FoxP3 gene, which led to the diagnosis of immune dysregulation polyendocrinopathy, enteropathy X-linked syndrome. Unfortunately, this patient suffered from cardiopulmonary arrest with resulting anoxic encephalopathy before diagnosis confirmation. Here, we discuss the key issues surrounding the diagnostic and therapeutic approaches to this patient's condition.
Department of Medicine, University of California, San Diego, La Jolla, USA. ltourangeau@ucsd.edu
Louanne M
LM
Tourangeau
Taylor A
TA
Doherty
D051858:Forkhead Transcription Factors / Q000235:genetics / Q000378:metabolism; D040181:Genetic Diseases, X-Linked / Q000175:diagnosis* / Q000235:genetics; D006323:Heart Arrest / Q000150:complications* / Q000628:therapy*; D006801:Humans; D002534:Hypoxia, Brain / Q000209:etiology*; D007410:Intestinal Diseases / Q000175:diagnosis* / Q000235:genetics; D008297:Male; D018458:Persistent Vegetative State / Q000209:etiology; D016884:Polyendocrinopathies, Autoimmune / Q000175:diagnosis* / Q000235:genetics; D017384:Sequence Deletion; D013577:Syndrome; D016896:Treatment Outcome; D055815:Young Adult
D051858:Forkhead Transcription Factors