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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D ICD – 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 precursors sndrome, and rare peripheral forms of congenital adrenal insufficiency or adrenoleukodystrophy, which might be associated with neurological features.

Triple-A syndrome – Wikipedia

Marital separation followed this difficult period. Check this box if you wish to receive a copy of your message. From Wikipedia, the free encyclopedia. It can be confirmed by molecular testing. Retrieved from ” https: Plasma renin activity was normal. Twenty years before these events the patient had developed swallowing difficulties.

Hum Mol Genet synrome 5: Treacher Collins syndrome Spinocerebellar ataxia 7 Cajal body: Only comments seeking to improve the quality and accuracy of information on the Orphanet syndromd are accepted. He also reported algrove difficulties with swallowing, taking an hour to eat a meal, constant cough, poor saliva control and accompanying inhalation of food.

This page was last edited on 28 Augustat Triple-A syndrome or AAA syndromealso known as achalasia-addisonianism-alacrima syndrome or Allgrove syndrome[1] is a rare autosomal recessive congenital disorder. Serotonin syndrome was proposed as a diagnosis, because he had recently started taking paroxetine for management of presumed psychogenic impotence. Achalasia was diagnosed on radiological and endoscopic findings, with symptomatic improvement following pneumatic dilatation.


Clues to recognising the syndrome Syhdrome suspicion of adrenal insufficiency in the presence of achalasia in any patient, children or adults. In most cases, there is no family history of it. In other projects Wikimedia Commons. Views Read Edit View history. Neurological manifestations are diverse: Summary and related texts. Adrenal insufficiency may cause hypoglycemia and seizures.

Familial glucocorticoid deficiency with achalasia of the cardia associated with mixed neuropathy, long-tract degeneration and mild dementia. Bird beak sign and rat tail sign can be appreciated on barium swallow.

Allgrove syndrome: when a recognisable paediatric disorder occurs in adulthood

Prognosis If untreated, triple A syndrome may have a high morbidity and prognosis can be severe. On plain x Ray an absence of fundal gas shadow, allgdove mediastinum and an air fluid level in mediastinum is also seen. Triple A syndrome syndroje a very rare multisystem disease characterized by adrenal insufficiency with allgrrove glucocorticoid deficiency, achalasia, alacrima, autonomic dysfunction and neurodegeneration.

The appropriate management of the disease ameliorates the prognosis significantly. Computed tomography CT scanning and magnetic resonance imaging of his brain showed no abnormality. Bulbar involvement and optic atrophy were observed. By using this site, you agree to the Terms of Use and Privacy Policy. Neurological dysfunction — not universal, but allgroge combination of achalasia and neurological dysfunction should prompt specific questions about symptoms of adrenal insufficiency. Direct questioning confirmed alacrima, the patient stating that he never produced tears at any age.

The gold standard investigation is a 24 hours manometry of oesophagus. Management and treatment Treatment for Triple A syndrome includes hydrocortisone substitutive therapy, esophageal dilatation or myotomy of the lower esophageal sphincter wyndrome artificial tear drops. 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.


Our patient had no family history of the disorder, indicating that he was likely to be the first index case with the mutated gene. Elevated adrenocorticotrophic hormone and low basal cortisol levels confirm the diagnosis. Allgrove syndrome in adulthood. For the vascular condition, see Abdominal aortic aneurysm.

J Neurol Neurosurg Psychiatry ; The onset of Triple A syndrome varies between infancy and adulthood. The differential diagnosis includes adrenoleukodystrophy ALD in childhood or adolescence, with either neurological abnormality or adrenal insufficiency as the first presentation. Responses are now closed for this article.

The documents contained in this web site are presented for information purposes only. Syndrkme features of achalasia cardia are seen.

Skin pigmentation varies, and is often missed unless a careful search for buccal, crease and scar pigmentary change is sought. Summary Syndrlme Prevalence is unknown but less than cases have been published since the first description in Alacrima is usually the earliest manifestation. The syndrome is highly variable.

When mineralocorticoid function is intact, postural hypotension and electrolyte disturbance, with an acute medical emergency presentation, is less likely.

This section is empty. Although most cases of Allgrove syndrome are diagnosed during childhood, awareness of this condition when undiagnosed in adults is crucial, as it is life threatening, and can severely affect neurological, sexual and psychological function.

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.

Similarly, the gene for Allgrve muscular dystrophy is located adjacent to the DAX-1 gene, producing neurological deterioration and adrenal insufficiency, but is generally diagnosed earlier.