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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Orphanet: Triple A syndrome Allgrove syndrome

Clinical suspicion of adrenal insufficiency in the presence of achalasia in any patient, children or adults. The gold standard investigation is a 24 hours manometry of oesophagus.

This section is empty. In other projects Wikimedia Commons. Computed tomography CT scanning and magnetic resonance imaging of his brain showed no allfrove.

Indian Journal of Gastroenterology. Only comments seeking to improve the quality and accuracy of information on the Orphanet website are accepted.

Alacrima — ascertaining this usually depends on direct questioning about tear production. Skin pigmentation varies, and is often missed unless a careful search for buccal, crease and scar pigmentary change is sought. Diagnosis is based on clinical examination and allgroev function testing.

Differential diagnosis thus includes other causes of adrenal insufficiency, achalasia allgrive alacrima such as frequent forms of sydrome 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.

Peripheral motor and sensory allbrove are common, 10 and may be subtle in childhood. Arch Dis Child ; There was significant improvement in his speech, cessation of cough and reported normalisation of eating habits. Prognosis If untreated, triple A syndrome may have a high morbidity and prognosis can be severe. An endocrinological consultation was sought because of increasing lethargy, weakness and reported testicular atrophy.


For the vascular condition, see Abdominal aortic aneurysm. Direct questioning confirmed alacrima, the patient stating that he never produced tears at any age. By using this site, you agree to the Terms of Use and Privacy Policy. The syndrome involves achalasiaaddisonianism adrenal insufficiency of primary typeand alacrima insufficiency of tears.

Triple-A syndrome – Wikipedia

Health zllgrove resources for this disease Expert centres Diagnostic tests 22 Patient organisations 35 Orphan drug s 4. From Wikipedia, the free encyclopedia. On plain x Ray an absence of fundal gas shadow, widened mediastinum and an air fluid level in mediastinum is also seen. Erectile dysfunction in our patient was neurological in origin, and so it is not surprising that it failed to respond to usual therapies.

It can be confirmed by molecular testing. No clear diagnosis was reached. Current admission An endocrinological consultation was sought because of increasing lethargy, weakness and reported testicular atrophy.

Allgrove syndrome: when a recognisable paediatric disorder occurs in adulthood

This page was last edited on 28 Augustallgrofe These problems usually result in extensive adrenal destruction and associated mineralocorticoid deficiency, often with a more dramatic presentation of ill health and electrolyte imbalance. Retrieved from ” https: Clues to recognising the syndrome Clinical suspicion of adrenal insufficiency in the presence of achalasia in any patient, children or adults. Treacher Collins syndrome Spinocerebellar ataxia 7 Cajal allgrpve Following features of achalasia cardia are seen.

These three cardinal signs may not all be present, or be associated with autonomic dysfunction and other neurological features, leading to the ”double A” or ”quaternary A” denomination, respectively.


J Clin Endocrinol Metab ; Previous history One year before admission, he had a 2-day history of lethargy, dizziness, and collapse with hypotension. Allgrove syndrome in adulthood. Summary Epidemiology Prevalence is unknown but less than cases have been published since the first description in In most cases, there is no family history of it.

Similarly, the gene for Duchenne muscular dystrophy is located adjacent to the DAX-1 gene, producing neurological deterioration and adrenal insufficiency, but is generally diagnosed earlier. Infobox medical condition new Articles to be expanded from August All articles to be expanded Articles with empty sections from August All articles with empty sections Articles using small message boxes.

Email me when people comment on this article. He also reported extreme difficulties with swallowing, taking an hour to eat a meal, constant cough, poor saliva control and accompanying inhalation of food. Plasma renin activity was normal. This article is about the congenital endocrine and muscular disorder. Twenty years before these events the patient had developed swallowing difficulties.

Managed effectively, affected individuals can have a normal lifespan and bear children. Check this box if you wish to receive a copy of your message. Unlike other neurological disorders associated with adrenal insufficiency, neurological change with Allgrove syndrome is extremely slow.

Triple A syndrome is a very rare multisystem disease characterized by adrenal insufficiency with isolated glucocorticoid deficiency, achalasia, alacrima, autonomic dysfunction and neurodegeneration. It shows non relaxation of lower oesophageal sphincter, increased tone of oesophageal sphincteratonic oesophagus. Views Read Edit View history.