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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Previous history One year before admission, he had a 2-day history of lethargy, dizziness, and collapse with hypotension. Only comments written algrove English can be processed.

Use the Advanced search for more specific terms. Email me when people comment on this article. By using this site, you syndroke to the Terms of Use and Privacy Policy. Views Read Edit View history. Summary Epidemiology Prevalence is unknown but less than cases have been published since the first description in Topics Endocrine system diseases. It can be confirmed by molecular testing.

Triple-A syndrome or AAA syndromealso known as achalasia-addisonianism-alacrima syndrome or Allgrove syndrome[1] is a rare autosomal recessive congenital disorder. Sybdrome was significant improvement in his speech, cessation of cough and reported normalisation of eating habits.

Following features of achalasia cardia are seen. Alacrima — ascertaining this usually depends on direct questioning about tear production. The appropriate management of the disease ameliorates the prognosis significantly. Plasma renin activity was normal.

Autosomal recessive disorders Syndromes affecting the gastrointestinal tract Congenital disorders Rare syndromes Nucleus diseases Medical triads Syndromes affecting the eyes Syndromes affecting the endocrine system.

Clues to recognising the syndrome Clinical suspicion of aolgrove insufficiency in the presence of achalasia in any patient, children or adults. In other projects Wikimedia Commons. His family history was unremarkable and did not include consanguinity. Serotonin syndrome was proposed as a diagnosis, because he had recently started taking paroxetine for management of presumed psychogenic impotence.


A diagnosis of primary adrenal insufficiency usually includes consideration of an autoimmune basis where adrenal antibody status should be tested with or without other pointers to polyautoimmune endocrinopathyinfective causes tuberculosis, viruses and mycoses and, in older patients, malignant infiltration.

Growth and puberty occurred normally. Neurological manifestations are diverse: 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 synxrome, which might be associated with neurological features.

Allgrove syndrome in adulthood. Management of neurological features is symptomatic.

Orphanet: Triple A syndrome Allgrove syndrome

We report a man with longstanding undiagnosed adrenal insufficiency. Eur J Pediatr ; Arch Dis Child ; 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 in our patient.

Over several years he had sought professional help for erectile dysfunction and ejaculatory failure, from urologists, sexual counsellors, psychiatrists and neurologists, without success. Hum Mol Genet ; 5: Familial glucocorticoid deficiency with achalasia of the cardia associated with mixed neuropathy, long-tract degeneration and mild dementia. Health care resources for this disease Expert centres Diagnostic tests 22 Patient organisations 35 Orphan drug s 4.

The differential diagnosis includes adrenoleukodystrophy ALD in childhood or adolescence, with either neurological abnormality or adrenal insufficiency as the first presentation.

From Wikipedia, the free encyclopedia. Disease definition Triple A syndrome is a very rare multisystem disease characterized by adrenal aklgrove with isolated glucocorticoid deficiency, achalasia, alacrima, autonomic dysfunction and neurodegeneration. Clin Endocrinol ; Prognosis If untreated, triple A syndrome may have a high morbidity and prognosis can be severe.


Allgrove syndrome: when a recognisable paediatric disorder occurs in adulthood

No clear diagnosis was reached. Summary and related texts. You will be notified by email within five working days should your response be accepted. 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 allgove, sexual and psychological function. The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment.

Such a late diagnosis emphasises the need for assessment of adrenal function in any young person with achalasia or alacrima. Adrenomyelodystrophy occurs when patients with this progressive demyelinating disorder first present in adulthood.

Triple-A syndrome – Wikipedia

Responses are now closed for this article. In most cases, there is no family history of it. 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. Allbrove onset of Triple A syndrome varies between infancy and adulthood.

Computed tomography CT scanning and magnetic resonance imaging of his brain showed no abnormality.

Triple-A syndrome

Familial glucocorticoid deficiency with achalasia of the cardia and deficient tear production. Only comments seeking to improve the quality and accuracy of information on the Orphanet website are syndrmoe. 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.