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

Computed tomography CT scanning and magnetic resonance imaging of syndgome brain showed no abnormality. J Clin Endocrinol Metab ; Allgrove syndrome in adulthood. There was significant improvement in his speech, cessation of cough and reported normalisation of eating habits.

Marital separation followed this difficult period. MRI of the brain of year-old boy with triple-A syndrome showing hypoplastic lacrimal glands yellow arrows.

Diagnosis of hypocortisolism is frequently delayed for patients with adrenal insufficiency, because of the subtle nature of clinical complaints weakness, tiredness, sydnrome and slow weight loss. For all other comments, please send your remarks via contact us.

Allgrove syndrome: when a recognisable paediatric disorder occurs in adulthood

Check this box if you wish to receive a copy of your message. Glucocorticoid and partial mineralocorticoid deficiency associated with achalasia.


A diagnosis of symdrome 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. Adrenal insufficiency may cause hypoglycemia and seizures. Management allgrofe neurological features is symptomatic. 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.

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. Allgrove syndrome was first described in The onset of Triple A syndrome varies between infancy and adulthood. 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.

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Treacher Collins syndrome Spinocerebellar ataxia 7 Cajal body: Managed effectively, affected individuals can have a normal lifespan and bear children. This page was last edited on 28 Augustat allgfove Current admission An endocrinological consultation was sought because of increasing lethargy, weakness and reported testicular atrophy.

No clear diagnosis was reached.

Topics Endocrine system diseases. One year before admission, he had a 2-day history of lethargy, dizziness, and collapse with hypotension.


Triple-A syndrome – Wikipedia

Summary and related texts. Clinical description The onset of Triple A syndrome varies between infancy and adulthood.

Health care resources for this disease Expert centres Diagnostic tests 22 Patient organisations 35 Orphan drug s 4. 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 allgeove features.

Growth and puberty occurred normally.

Triple-A syndrome

When mineralocorticoid function is intact, postural hypotension and electrolyte disturbance, with an acute medical emergency presentation, is less likely. A neurological report described mixed motor neurone abnormalities, with symmetrical four-limb weakness, predominantly distal muscle wasting, bilateral pes cavus, symmetrical hyperreflexia and positive Babinski reflexes.

Diagnosis is based on clinical examination and adrenal function testing. His family history was unremarkable and did not include consanguinity. Prevalence is unknown but less than cases have been published since the aplgrove description in Twenty years before these events the patient had developed swallowing difficulties.