Abstract. Allgrove’s or “4 A” syndrome is a rare autosomal recessive condition with alacrima, achalasia, autonomic disturbance, and ACTH insensitivity among. Triple-A syndrome or AAA syndrome, also known as achalasia-addisonianism- alacrima syndrome or Allgrove syndrome, is a rare autosomal recessive. Disease summary: Allgrove Syndrome (AS) is rare autosomal recessive disorder characterised by achalasia cardia, alacrimia and adrenal insufficiency, which is.

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The gold standard investigation is a 24 hours manometry of oesophagus. Prevalence is unknown but less than cases have been published since the first description in Although neurological disorder constitutes part of the condition, the severe and progressive muscle weakness of long-term undiagnosed adrenal insufficiency makes a major contribution to reduced motor function and quality of life, as seen sydrome our patient.

Disease definition Triple A syndrome is a very rare multisystem disease characterized by adrenal insufficiency with isolated glucocorticoid deficiency, achalasia, alacrima, autonomic dysfunction and neurodegeneration.

Over several years he had sought professional help for erectile dysfunction and ejaculatory failure, from urologists, sexual counsellors, psychiatrists and neurologists, without success.

Familial glucocorticoid deficiency with achalasia of the cardia associated with mixed neuropathy, long-tract degeneration and mild dementia. For the vascular condition, see Abdominal aortic aneurysm. Discussion This patient with Allgrove syndrome, who developed symptoms of severe life-threatening adrenal insufficiency at age 36, but retained normal mineralocorticoid function, is the oldest reported case surviving with undiagnosed adrenal insufficiency.

Orphanet: Triple A syndrome Allgrove syndrome

Additional information Further information on this disease Classification s 6 Gene s 3 Clinical signs and symptoms Publications in PubMed Other website s 5. Current admission An endocrinological consultation was sought because of increasing lethargy, weakness and reported testicular atrophy.


Only comments seeking to improve the quality and accuracy of information on the Orphanet website are accepted. Eur J Pediatr ; Infobox medical condition new Articles to be expanded syndromf August All articles to be expanded Articles with empty sections from August All articles with empty sections Articles using small message boxes.

Differential diagnosis thus includes other causes of adrenal insufficiency, achalasia or alacrima such as frequent forms of congenital adrenal hyperplasia easily excluded with dosage of adrenal hormones precursorsand rare peripheral forms of congenital adrenal insufficiency or adrenoleukodystrophy, which might be associated with neurological features.

The syndrome is highly variable. J Neurol Neurosurg Psychiatry ; This section is empty.

These problems usually result in extensive adrenal destruction and associated mineralocorticoid deficiency, often with a more dramatic presentation of ill health and electrolyte imbalance.

Clinical suspicion of adrenal insufficiency in the presence of achalasia in syndrom patient, children or adults. Following features of achalasia cardia are seen. Twenty years before these events the patient had developed swallowing difficulties.

Allgrove syndrome: when a recognisable paediatric disorder occurs in adulthood

J Clin Endocrinol Metab ; Email me when people comment on this article. This article is about the congenital endocrine and muscular disorder. Diagnosis of hypocortisolism is frequently delayed for patients with adrenal insufficiency, because of the subtle nature of clinical complaints weakness, tiredness, dizziness and slow weight loss.

There may also be signs of autonomic dysfunction with AAA, such as pupillary abnormalities, an abnormal reaction to intradermal histamine, abnormal sweating, orthostatic hypotension, and disturbances of the heart rate. It shows non relaxation of lower oesophageal sphincter, increased tone of oesophageal sphincteratonic oesophagus.

Triple-A syndrome or AAA syndromealso known as achalasia-addisonianism-alacrima syndrome or Allgrove syndrome[1] is a rare autosomal recessive congenital disorder. Allgrove syndrome was first described in Views Read Edit View history. Our patient had no family history of the disorder, indicating that he was likely to be the first index case with the mutated gene.


Triple-A syndrome – Wikipedia

A diagnosis of Allgrove syndrome was made clinically, and adrenal insufficiency was confirmed with the discovery of elevated ACTH and low basal cortisol levels see Box 1. Responses are now closed for this article. On plain x Ray an absence of fundal gas shadow, widened mediastinum and an air fluid level in mediastinum is also seen. If untreated, triple A syndrome may have a high morbidity and prognosis can be severe. Use the Advanced search for more specific terms.

Alacrima, when present, is the first clinical sign, manifesting in the first months of life, but achalasia of the cardia, leading to dysphagia, is usually the first relevant symptom leading to diagnosis.

In cases reported previously, adrenal insufficiency was usually diagnosed in the first decade 6 with a few exceptions 278accompanied by hypoglycaemia and increased skin pigmentation.

Summary and related texts. The documents contained in this web site are presented for information purposes only. Clues to recognising the syndrome Clinical suspicion of adrenal insufficiency in the presence of achalasia in any patient, children or adults. Publication of your online response is subject to the Medical Journal of Australia ‘s editorial discretion.