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

Clues to recognising the 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. Following features of achalasia cardia are seen. There was significant improvement in his speech, cessation of cough and reported normalisation of eating habits.

Allgrove syndrome: when a recognisable paediatric disorder occurs in adulthood

Additional information Further information on this disease Classification s 6 Gene s 3 Clinical signs and symptoms Publications in PubMed Other website s 5. No clear diagnosis was reached.

Plasma renin activity was normal.

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.

Views Read Edit View history. Alacrima is usually the earliest manifestation.

Triple-A syndrome – Wikipedia

Given that the presence of 2 among the 3 main clinical signs achalasia, alacrima or adrenal insufficiency is pathognomonic, differential diagnosis can be considered when only one clinical sign is observed, for example at the onset of the disease.


From Wikipedia, the free encyclopedia. Use the Advanced search syndrime more specific terms. 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. Summary and related texts. You can help by adding to it. With adequate cortisol replacement, monitoring of ACTH levels and education to ensure appropriate increases ayndrome corticosteroid treatment during intercurrent illness or anaesthesia, the prognosis for health and quality of life is improved.

Diagnostic methods Diagnosis is based on clinical examination and adrenal function testing. Basic Search Advanced search search. Clin Endocrinol alglrove J Neurol Neurosurg Psychiatry ; On plain x Ray an absence of fundal gas shadow, widened mediastinum and an air fluid level in mediastinum is also seen.

In other projects Wikimedia Commons. Muscle Nerve ; Allgrove syndrome was first described in ACTH insensitivity due to adrenocortical atrophy is the resultant clinical picture. There may also be signs of syndrme dysfunction with AAA, such as pupillary abnormalities, an abnormal reaction to intradermal histamine, abnormal sweating, orthostatic hypotension, and disturbances of the heart rate. Erectile dysfunction in our patient was neurological in origin, and so it is not surprising that it failed to respond to usual therapies.

Summary Epidemiology Prevalence is unknown but less than cases have been published since the first description in Triple A syndrome is a very qllgrove multisystem disease characterized by adrenal insufficiency with isolated glucocorticoid syndromr, achalasia, alacrima, autonomic dysfunction and neurodegeneration. Our patient had no family history of the disorder, indicating that he was likely to be the first index case with the mutated gene.

You will be notified by email within five working days should your response be accepted. 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.


Prevalence is unknown but less than cases have been published since the first description in syndromw 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.

He also reported extreme difficulties with swallowing, taking an hour to eat a meal, constant cough, poor saliva control and accompanying inhalation of food. This article is about the congenital endocrine and muscular disorder. Health care resources for this disease Expert centres Diagnostic tests 22 Patient organisations 35 Orphan drug s 4. 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.

Triple-A syndrome

Alacrima — ascertaining this usually depends on direct questioning about tear production. Treacher Collins syndrome Spinocerebellar ataxia 7 Cajal body: An endocrinological consultation was sought because of increasing lethargy, weakness and reported testicular atrophy. Clinical suspicion of adrenal insufficiency in the presence of achalasia in any patient, children or adults. 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.