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An unique case suffering from repetitive syncope episodes due to ictal asystole.

ABSTRACT: We present the case of a patient with syncope with repetition over 12 years, with a clinical profile not clearly related with a cardiogenic origin, who was studied by several medical specialties without any accurate diagnosis. After subcutaneous loop recorder implantation, we were able to demonstrate how seizures acted as a trigger in the genesis of an exaggerated cardio inhibitory reflex. A new entity has been described, known as "ictal asystole", in patients with focal epilepsy mostly from the temporal lobes and has been implicated as a cardiac cause of sudden unexplained death in epilepsy. We think this case could add new information about some patients who are at high risk of death but they are misdiagnosed.

SUBMITTER: Gil-Ortega I

PROVIDER: S-EPMC6265108 | biostudies-literature | 2011 Jun

REPOSITORIES: biostudies-literature

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An unique case suffering from repetitive syncope episodes due to ictal asystole.

Gil-Ortega Ignacio I Garrido-Corro Beatriz B Gil-Ortega Milagros M Fortuna-Alcaraz Maria Lorenza ML

Journal of cardiology cases 20110411 3

We present the case of a patient with syncope with repetition over 12 years, with a clinical profile not clearly related with a cardiogenic origin, who was studied by several medical specialties without any accurate diagnosis. After subcutaneous loop recorder implantation, we were able to demonstrate how seizures acted as a trigger in the genesis of an exaggerated cardio inhibitory reflex. A new entity has been described, known as "ictal asystole", in patients with focal epilepsy mostly from the ...[more]

PMID: 30532856

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Project description:Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED) is a rare monogenic disorder, associated with endocrine deficiencies and non-endocrine involvement. Gastrointestinal (GI) manifestations appear in approximately 25% of patients and are the presenting symptom in about 10% of them. Limited awareness among pediatricians of autoimmune enteropathy (AIE) caused by destruction of the gut endocrine cells in APECED patients delays diagnosis and appropriate therapy. We describe an 18-year-old female presenting at the age of 6.10 years with hypoparathyroidism, oral candidiasis and vitiligo. The clinical diagnosis of APECED was confirmed by sequencing the autoimmune regulator-encoding (AIRE) gene. Several characteristics of the disease-Hashimoto's thyroiditis, Addison's disease, diabetes mellitus type 1 and primary ovarian insufficiency-developed over the years. She had recurrent episodes of severe intractable hypocalcemia. Extensive GI investigations for possible malabsorption, including laboratory analyses, imaging and endoscopy with biopsies were unremarkable. Revision of the biopsies and chromogranin A (CgA) immunostaining demonstrated complete loss of enteroendocrine cells in the duodenum and small intestine, confirming the diagnosis of AIE. Management of hypocalcemia was challenging. Only intravenous calcitriol maintained calcium in the normal range. Between hypocalcemic episodes, the proband maintained normal calcium levels, suggesting a fluctuating disease course. Repeated intestinal biopsy revealed positive intestinal CgA immunostaining. The attribution of severe hypocalcemic episodes to AIE emphasizes the need for increased awareness of this unique presentation of APECED. The fluctuating disease course and repeated intestinal biopsy showing positive CgA immunostaining support a reversible effect of GI involvement. CgA immunostaining is indicated in patients with APECED for whom all other investigations have failed to reveal an explanation for the malabsorption.

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An unique case suffering from repetitive syncope episodes due to ictal asystole.

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An unique case suffering from repetitive syncope episodes due to ictal asystole.

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