scholarly journals GAD antibody-associated limbic encephalitis in a young woman with APECED

2017 ◽  
Vol 2017 ◽  
Author(s):  
Anna Kopczak ◽  
Adrian-Minh Schumacher ◽  
Sandra Nischwitz ◽  
Tania Kümpfel ◽  
Günter K Stalla ◽  
...  
Keyword(s):  
Adrenal Insufficiency ◽  
Limbic Encephalitis ◽  
Immunosuppressive Treatment ◽  
Addison’S Disease ◽  
Epileptic Seizures ◽  
Oligoclonal Bands ◽  
Addison's Disease ◽  
List Type ◽  
Gad Antibodies ◽  
Aire Gene

Summary The autoimmune polyendocrinopathy–candidiasis–ectodermal dystrophy (APECED) syndrome is a genetic disorder caused by a mutation in the autoimmune regulator (AIRE) gene. Immune deficiency, hypoparathyroidism and Addison’s disease due to autoimmune dysfunction are the major clinical signs of APECED. We report on a 21-year-old female APECED patient with two inactivating mutations in the AIRE gene. She presented with sudden onset of periodic nausea. Adrenal insufficiency was diagnosed by means of the ACTH stimulation test. Despite initiation of hormone replacement therapy with hydrocortisone and fludrocortisone, nausea persisted and the patient developed cognitive deficits and a loss of interest which led to the diagnosis of depression. She was admitted to the psychiatric department for further diagnostic assessment. An EEG showed a focal epileptic pattern. Glutamic acid decarboxylase (GAD) antibodies, which had been negative eight years earlier, were now elevated in serum and in the cerebrospinal fluid. Oligoclonal bands were positive indicating an inflammatory process with intrathecal antibody production in the central nervous system (CNS). The periodic nausea was identified as dialeptic seizures, which clinically presented as gastrointestinal aura followed by episodes of reduced consciousness that occurred about 3–4 times per day. GAD antibody-associated limbic encephalitis (LE) was diagnosed. Besides antiepileptic therapy, an immunosuppressive treatment with corticosteroids was initiated followed by azathioprine. The presence of nausea and vomiting in endocrine patients with autoimmune disorders is indicative of adrenal insufficiency. However, our case report shows that episodic nausea may be a symptom of epileptic seizures due to GAD antibodies-associated LE in patients with APECED. Learning points: Episodic nausea cannot only be a sign of Addison’s disease, but can also be caused by epileptic seizures with gastrointestinal aura due to limbic encephalitis. GAD antibodies are not only found in diabetes mellitus type 1, but they are also associated with autoimmune limbic encephalitis and can appear over time. Limbic encephalitis can be another manifestation of autoimmune disease in patients with APECED/APS-1 that presents over the time course of the disease.

scholarly journals Addison’s disease in antiphospholipid syndrome: a rare complication

2018 ◽  
Vol 2018 ◽  
Author(s):  
Diana Oliveira ◽  
Mara Ventura ◽  
Miguel Melo ◽  
Sandra Paiva ◽  
Francisco Carrilho
Keyword(s):  
Adrenal Insufficiency ◽  
Antiphospholipid Syndrome ◽  
Rare Complication ◽  
Addison’S Disease ◽  
Addison's Disease ◽  
List Type ◽  
Adrenal Imaging ◽  
Significant Clinical Improvement ◽  
Life Threatening ◽  
High Index Of Suspicion

Summary Addison’s disease (AD) is the most common endocrine manifestation of antiphospholipid syndrome (APS), but it remains a very rare complication of the syndrome. It is caused by adrenal venous thrombosis and consequent hemorrhagic infarction or by spontaneous (without thrombosis) adrenal hemorrhage, usually occurring after surgery or anticoagulant therapy. We present a clinical case of a 36-year-old female patient with a previous diagnosis of APS. She presented with multiple thrombotic events, including spontaneous abortions. During evaluation by the third episode of abortion, a CT imaging revealed an adrenal hematoma, but the patient was discharged without further investigation. A few weeks later, she presented in the emergency department with manifestations suggestive of adrenal insufficiency. Based on that assumption, she started therapy with glucocorticoids, with significant clinical improvement. After stabilization, additional investigation confirmed AD and excluded other etiologies; she also started mineralocorticoid replacement. This case illustrates a rare complication of APS that, if misdiagnosed, may be life threatening. A high index of suspicion is necessary for its diagnosis, and prompt treatment is crucial to reduce the morbidity and mortality potentially associated. Learning points: AD is a rare but life-threatening complication of APS. It is important to look for AD in patients with APS and a suggestive clinical scenario. APS must be excluded in patients with primary adrenal insufficiency and adrenal imaging revealing thrombosis/hemorrhage. Glucocorticoid therapy should be promptly initiated when AD is suspected. Mineralocorticoid replacement must be started when there is confirmed aldosterone deficiency. Hypertension is a common feature of APS; in patients with APS and AD, replacement therapy with glucocorticoids and mineralocorticoids may jeopardize hypertension management.

Cognitive function in patients with primary adrenal insufficiency (Addison's disease)

2015 ◽  
Vol 55 ◽  
pp. 1-7 ◽  
Author(s):  
Katharina Schultebraucks ◽  
Katja Wingenfeld ◽  
Jana Heimes ◽  
Marcus Quinkler ◽  
Christian Otte
Keyword(s):  
Cognitive Function ◽  
Adrenal Insufficiency ◽  
Addison’S Disease ◽  
Addison's Disease ◽  
Primary Adrenal Insufficiency

No inhibition of corticotrophin (ACTH)-hypersecretion in adrenal insufficiency by somatostatin

1980 ◽  
Vol 95 (1) ◽  
pp. 71-74 ◽  
Author(s):  
A. Jara-Albarrán ◽  
J. Bayort ◽  
A. Caballero ◽  
R. Eusebio ◽  
P. García-Peris ◽  
...  
Keyword(s):  
Adrenal Insufficiency ◽  
Addison’S Disease ◽  
Addison's Disease ◽  
Plasma Acth ◽  
Acth Secretion ◽  
Primary Adrenal Insufficiency ◽  
No Inhibition ◽  
Infusion Period

Abstract. Somatostatin (250 μg as a bolus iv and 250 μg as a I h infusion) was administered to 6 patients with primary adrenal insufficiency (Addison's disease). The fall in plasma ACTH during the infusion period ranged between 0–30% with a mean reduction of 11.2 ± 11.6%. These findings suggest that with the method employed, somatostatin is not an inhibitor of ACTH secretion in a condition in which glucocorticoids are lacking.

Autoimmune Addison's disease--evidence for a role of steroid 21-hydroxylase autoantibodies in adrenal insufficiency.

1994 ◽  
Vol 79 (5) ◽  
pp. 1517-1521
Author(s):  
J Furmaniak ◽  
S Kominami ◽  
T Asawa ◽  
N Wedlock ◽  
J Colls ◽  
...  
Keyword(s):  
Adrenal Insufficiency ◽  
Addison’S Disease ◽  
Addison's Disease

scholarly journals Addison’s Disease Presenting as Acute Renal Failure and Hyperkalemic Paralysis: A Rare Presentation

2021 ◽  
Vol 2021 ◽  
pp. 1-4
Author(s):  
Kundan Jana ◽  
Kalyana Janga ◽  
Sheldon Greenberg ◽  
Amit Gulati
Keyword(s):  
Renal Failure ◽  
Acute Renal Failure ◽  
Adrenal Insufficiency ◽  
Delayed Diagnosis ◽  
Kidney Injury ◽  
Addison’S Disease ◽  
Adrenal Crisis ◽  
Addison's Disease ◽  
Medication History ◽  
Rare Presentation

Hyperkalemic paralysis in the setting of acute renal failure can lead to a missed or delayed diagnosis of adrenal insufficiency as the raised potassium can be attributed to the renal failure. Acute kidney injury as the presenting manifestation in an adrenal crisis due to Addison’s disease has been rarely reported in the literature. Here, we present the case of a young 37-year-old male who came with hyperkalemic paralysis and acute renal failure needing emergent hemodialysis. He had no past medical history and no medication history. His hyponatremia, hypotension, and hyperkalemia pointed to a picture of adrenal insufficiency confirmed by undetectable serum cortisol, elevated ACTH, renin, and low aldosterone levels and imaging. Replacement steroid therapy was given, and the patient made a steady recovery. He was advised on the importance of compliance to treatment at discharge to prevent another crisis event. Acute renal failure with hyperkalemia as a presenting manifestation of Addison’s disease can be very misleading. It is especially important to be vigilant of adrenal insufficiency in such patients as the hyperkalemia is resistant to standard therapy of insulin dextrose and can precipitate fatal arrhythmia if treatment is delayed.

scholarly journals Etiological and clinical structure of primary chronic adrenal insufficiency: retrospective analysis of 426 cases

1998 ◽  
Vol 44 (6) ◽  
pp. 22-26
Author(s):  
V. V. Fadeev ◽  
I. I. Buziashvili ◽  
I. I. Dedov
Keyword(s):  
Family History ◽  
Autoimmune Diseases ◽  
Adrenal Insufficiency ◽  
Retrospective Analysis ◽  
Dynamic Assessment ◽  
Addison’S Disease ◽  
Addison's Disease ◽  
Medical Academy ◽  
History Of ◽  
Close Relatives

A retrospective analysis of case histories of 426 patients with primary chronic adrenal insufficiency (1-AI), followed up at Endocrinology Research Center, Russian Academy of Medical Sciences, and/or Endocrinology Clinic of I. M. Setchenov Moscow Medical Academy in 1954-1977, was carried out in order to assess the etiological and clinical structure of this disease. The idiopathic form of Addison 's disease prevailed over its tuberculous form (70 and 30%), respectively); dynamic assessment of morbidity over the above period showed a progressive predominance of the idiopathic form. 1-AI is more than 2 times more incident in women, and the incidence of the disease in women vs. men is ever growing. There are at least 2.5 times more women than men among patients with idiopathic Addison's disease, while for the tuberculous form the ratio is 1:1. The mean age of 1-AI manifestation is 34.3 ± 0.46 years. The peak of clinical manifestation of idiopathic Addison's disease occurs between 20 and 40 years (at the age of 32.8 years on average), while for the tuberculous form this age is 30-50 years (37.4), which indicates a later manifestation of this form (p < 0.01). In 28%) cases idiopathic Addison's disease coursed in the presence of autoimmune polyglandular syndromes (APS): type 1 in 3%o and type II in 25% cases. Dynamic assessment of the ratio of the incidence of 1-AI alone to that in the presence of APS showed that from the thirties to the fifties, idiopathic Addison's disease was a component of APS in 13 % cases and by the eighties and nineties this values increased to 34%), which permits a conclusion about pathomorphism of 1-AI, consisting in gradual transfer of this disease into APS. Many patients with 1-AI develop concomitant autoimmune diseases; analysis of family history of such patients reveals autoimmune diseases in close relatives in many cases, while the majority of patients with the tuberculous form of Addison 5 disease have a family history of tuberculosis.

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