Abstract #123: A Case of Adrenal Insufficiency Secondary to Allgrove Syndrome (“4A” Syndrome)

2004 ◽  
Vol 10 ◽  
pp. 43
Author(s):  
A. Vijay Rathinam ◽  
Elias S. Siraj
Keyword(s):  
Adrenal Insufficiency ◽  
Allgrove Syndrome

scholarly journals Sindrome de allgrove en niños. Reporte de 11 casos

2020 ◽  
Vol 50 (4) ◽  
Author(s):  
María Carmen Álvarez López ◽  
Pedro Coello Ramírez ◽  
Elizabeth García Rodríguez ◽  
Mariana Ordoñez Cárdenas ◽  
Fátima Azereth Reynoso Zarzosa
Keyword(s):  
Adrenal Insufficiency ◽  
Genetic Disease ◽  
High Frequency ◽  
Clinical Characteristics ◽  
Autosomal Recessive ◽  
Allgrove Syndrome ◽  
Documented Case ◽  
Responsible Gene ◽  
Neurological Alterations ◽  
Chronic Vomiting

Background. Allgrove Syndrome is a very rare genetic disease, which is inherited in an autosomal recessive way. The responsible gene is the AAAS, that encodes the protein ALADIN. It occurs most often in children of consanguineous parents. It is characterized by the classic triad of achalasia, alacrima, and adrenal insufficiency due to resistance to ACTH; the presence of two of the three previous manifestation events are required to establish the diagnosis. There is also a high frequency of the neurologic symptoms. Objective. Describe the clinical characteristics, age of presentation and evolution in 11 patients with Allgrove Syndrome. Methods. 11 clinical cases compatible with Allgrove Syndrome of presentation in childhood are retrospectively reviewed. Results. The average age at diagnosis was 5.9 years (range 1-16 years old). There was a predominance of the female sex (n = 7). The most common symptoms were postprandial vomiting and alacrima, present in 100% of the cases at the time of diagnosis. Adrenal insufficiency was not common; it was only documented in one patient. There was consanguinity between parents in 62.5% of the cases. Conclusions. Allgrove Syndrome is an uncommon cause of dysphagia, chronic vomiting and failure to grow in children. In case of any documented case of achalasia it is suggested to question in a directed way the presence of alacrima and adrenal insufficiency data such as seizures, hyperpigmentation of the skin and neurological alterations.

scholarly journals Allgrove syndrome: how to suspect the problem? Endocrinologists experience

2020 ◽  
Vol 66 (1) ◽  
pp. 64-69
Author(s):  
Natalya I. Volkova ◽  
Ilya Y. Davidenko ◽  
Igor B. Reshetnikov ◽  
Snezhana S. Brovkina
Keyword(s):  
Adrenal Insufficiency ◽  
Neurological Disorders ◽  
Autosomal Recessive ◽  
Clinical Observation ◽  
Pathogenic Mutation ◽  
Multisystem Disease ◽  
Allgrove Syndrome ◽  
Interdisciplinary Interaction ◽  
Over Time

Allgrove syndrome (Alacrimia, Achalasia, Adrenal insufficiency, AAAS) is a rare autosomal recessive multisystem disease characterized by chronic adrenal insufficiency, alacrimia and achalasia of the cardia. This disease is often associated with various neurological disorders, amyotrophy, in such cases, it is named 4A and 5A syndrome, but sometimes there is also 2A syndrom. The occurrence of the disease is due to a mutation in the gene AAAS (12q13), which encodes the protein ALADIN. Here is a clinical observation of a patient with Allgrove syndrome. The patient had a typical clinic: alacrimia, achalasia, adrenal insufficiency, convulsive syndrome. However, a neurological disorder, manifested by convulsive syndrome, passed with time. Despite the full clinical picture, the diagnosis was made only after 14 years. Allgrove syndrome was verified through genetic analysis revealed a pathogenic mutation c.43CT gene AAAS. Progression of the severity of alacrimia and need of glucocorticoids over time was noted. We shown the difficulty of diagnosis is due to the lack of awareness of clinicians about the disease, the importance of interdisciplinary interaction, as well as the need for follow-up of such patients.

The diagnosis of adrenal insufficiency in a patient with Allgrove syndrome and a novel mutation in the ALADIN gene

Metabolism ◽  
2005 ◽  
Vol 54 (2) ◽  
pp. 200-205 ◽  
Author(s):  
Marzieh Salehi ◽  
Henry Houlden ◽  
Arsalan Sheikh ◽  
Leonid Poretsky
Keyword(s):  
Adrenal Insufficiency ◽  
Novel Mutation ◽  
Allgrove Syndrome

4th A in a triple A syndrome – A rare case report

2020 ◽  
Vol 0 (0) ◽  
Author(s):  
K. MaheshKumar ◽  
Shriraam Mahadevan ◽  
Padmavathi Ramaswamy
Keyword(s):  
Adrenal Insufficiency ◽  
Autonomic Dysfunction ◽  
Autonomic Function ◽  
Genetic Disorder ◽  
Triple A Syndrome ◽  
Case Presentation ◽  
Allgrove Syndrome ◽  
Abnormal Gait ◽  
Rare Case Report ◽  
Sympathovagal Imbalance

AbstractObjectivesAAA (Allgrove) syndrome is a rare genetic disorder characterized by cardinal features of adrenal insufficiency, achalasia, and alacrimia.Case presentationA 21 year girl of known case of Triple A syndrome was referred for the evaluation of autonomic function. She was born full term with developmental delay and abnormal gait. Esophageal manometry study by pneumatic balloon dilatation revealed the presence of achalasia cardia. She had signs of peripheral neuropathy and had episodes of fainting and suspected orthostatic hypotension. Cardiovascular autonomic function and heart rate variability tests were conducted as per Ewing protocol, revealed that the patient had sympathovagal imbalance and sympathetic dominance.ConclusionsThe presence of autonomic dysfunction adds the 4th A to the Triple A syndrome (Adrenal insufficiency, Achalasia, Alacrimia and Autonomic dysfunction). Noninvasive autonomic function tests are recommended for Triple A syndrome patients to reduce the morbidity associated with autonomic dysfunction.

scholarly journals Allgrove syndrome: a rare etiology of adrenal insufficiency in pediatrics

2017 ◽  
pp. 117-120
Author(s):  
Aicha Laargane ◽  
◽  
Ahmed Gaouzi ◽  
Keyword(s):  
Adrenal Insufficiency ◽  
Nous Rapportons ◽  
Allgrove Syndrome ◽  
Système Nerveux Central ◽  
Système Nerveux

Le syndrome Triple A ou maladie d’Allgrove est une maladie génétique complexe, multisystémique et très rare. Ce syndrome associe une insuffisance surrénalienne par résistance adrénocorticotrope (ACTH) avec un déficit isolé en glucocorticoïdes, une achalasie et une alacrymie. A ce tableau typique se greffent des perturbations neurologiques sévères, parfois très invalidantes, touchant le système nerveux central, autonome et périphérique, qualifiant le syndrome de quadruple A. De ce fait, il apparait comme étant un syndrome neuroendocrinien engendrant une symptomatologie atypique, ce qui augmente le risque d’errances diagnostiques. Nous rapportons les particularités diagnostiques de ce syndrome à partir de deux observations portant sur 2 enfants consultant pour un retard staturo-pondéral avec absence de sécrétions lacrymales depuis la naissance. Le diagnostic chez nos patients a été retenu devant le syndrome cardinal ; alacrymie, achalasie et insuffisance surrénalienne, dont la particularité est l’association à un déficit en minéralocorticoïde qui est inhabituel dans le cadre du syndrome d’Allgrove.

Severe malnutrition causing superior mesenteric artery syndrome in an adolescent with Triple A syndrome

2016 ◽  
Vol 29 (10) ◽  
Author(s):  
Christy Foster ◽  
Abha Choudhary
Keyword(s):  
Superior Mesenteric Artery ◽  
Adrenal Insufficiency ◽  
Mesenteric Artery ◽  
Delayed Diagnosis ◽  
Superior Mesenteric Artery Syndrome ◽  
Adolescent Male ◽  
Severe Malnutrition ◽  
Triple A Syndrome ◽  
Allgrove Syndrome ◽  
Sma Syndrome

AbstractTriple A syndrome, formerly known as Allgrove syndrome (AS), is characterized by achalasia, alacrima and adrenal insufficiency. Here we report an adolescent male with adrenal insufficiency who developed severe malnutrition secondary to a delayed diagnosis of achalasia. The severe malnutrition in our patient led to superior mesenteric artery (SMA) obstruction syndrome. Severe malnutrition to the point of SMA syndrome has not been previously described in the literature in Triple A syndrome.

scholarly journals Late onset adrenal insufficiency and achalasia in Allgrove syndrome

2015 ◽  
Vol 2015 (feb26 1) ◽  
pp. bcr2014208900-bcr2014208900 ◽  
Author(s):  
J. Thomas ◽  
S. Subramanyam ◽  
S. Vijayaraghavan ◽  
E. Bhaskar
Keyword(s):  
Adrenal Insufficiency ◽  
Late Onset ◽  
Allgrove Syndrome

scholarly journals CLINICAL COURSE OF A UNIQUE CASE OF ALLGROVE SYNDROME AND CHALLENGES OF HYPOGLYCEMIA MANAGEMENT

2019 ◽  
Vol 5 (6) ◽  
pp. e357-e361
Author(s):  
Chang Lu ◽  
Ting A. Lee ◽  
Debra H. Pan ◽  
Elaine M. Pereira ◽  
Ping Zhou
Keyword(s):  
Adrenal Insufficiency ◽  
Clinical Course ◽  
Clinical Information ◽  
Altered Mental Status ◽  
Metabolic Effects ◽  
Unique Case ◽  
Neuropsychological Development ◽  
Allgrove Syndrome ◽  
History Of ◽  
Glucocorticoid Deficiency

Objective: Allgrove syndrome (AS), also known as triple-A syndrome, is a rare disorder characterized by alacrima, achalasia, adrenal insufficiency, and other manifestations such as problems related to growth, puberty, and neuropsychological development. Although the genetics of this disorder have been studied extensively in recent decades, clinical information is still lacking. Methods: We present a unique case of AS from which we have gained significant insight into its clinical course, especially the management of hypoglycemia. Results: The patient initially presented with altered mental status at age 3 which was found to be due to hypoglycemia. Laboratory values confirmed primary adrenal insufficiency with isolated glucocorticoid deficiency. With additional history of alacrima, a genetic test was obtained which confirmed the diagnosis of AS. For over 10 years, we have been following her growth, puberty, and development. We experienced some challenges in managing her hypoglycemia initially. Certain metabolic effects of steroid overdose were noted. To resolve this problem, we found dextrose supplementation quite effective. Conclusion: The rarity and isolated glucocorticoid deficiency of AS pose clinical challenges for initial diagnosis. Hypoglycemia associated with alacrima should alert the suspicion of AS. Management of hypoglycemia in AS is complicated by achalasia and may benefit from incorporation of both glucocorticoid and dextrose supplementation to prevent side effects of steroid overdose.

Clinical profile, etiology, and diagnostic challenges of primary adrenal insufficiency in Sudanese children: 14-years’ experience from a resource limited setting

2021 ◽  
Vol 0 (0) ◽  
Author(s):  
Salwa A. Musa ◽  
Samar S. Hassan ◽  
Amna I. Ahmed ◽  
Thomas Ngwiri ◽  
Ghassan F. Fadlalbari ◽  
...  
Keyword(s):  
Adrenal Insufficiency ◽  
Clinical Presentation ◽  
Health Care Facilities ◽  
Adrenal Crisis ◽  
Inadequate Response ◽  
Primary Adrenal Insufficiency ◽  
Allgrove Syndrome ◽  
Diagnosis And Management ◽  
Resource Limited ◽  
Morning Cortisol

Abstract Objectives Primary adrenal insufficiency (PAI) in children is an uncommon condition. Congenital adrenal hyperplasia (CAH) is the commonest cause followed by autoimmune disorders. Diagnosis and management are challenging especially in resource-limited settings. Studies from Africa are scanty and here we describe for the first time the clinical presentation, possible etiologies, and challenges in diagnosis and management of PAI in a large cohort of Sudanese children. Methods This was a descriptive hospital-based study where all patients diagnosed with PAI between 2006 and 2020 were reviewed. The diagnosis was based on clinical presentation, low morning cortisol ± high adrenocorticotropic hormone (ACTH), or inadequate response of cortisol to synacthen stimulation. Challenges faced in diagnosis and management were identified. Results From 422 PAI suspected patients, 309 (73.2%) had CAH, and 33 (7.8%) had PAI-like symptoms and were not furtherly discussed. Eighty patients (19%) had fulfilled the study criteria: 29 had Allgrove syndrome, nine auto-immune polyendocrinopathy syndrome, seven adrenoleukodystrophy, and one had an adrenal hemorrhage. Hyperpigmentation was the cardinal feature in 75 (93.8%) while the adrenal crisis was not uncommon. Lack of diagnostic facilities has obscured the etiology in 34 (42.5%) patients. Conclusions PAI is not uncommon in Sudanese children where genetic causes outweigh the autoimmune ones. Many cases were missed due to nonspecific presentation, lack of awareness, and difficult access to tertiary health care facilities. In addition to the clinical findings, early morning cortisol ± ACTH levels can be used in diagnosis where facilities are limited particularly synacthen stimulation test.

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