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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This section is empty. Alltrove me when people comment on this article. Treacher Collins syndrome Spinocerebellar ataxia 7 Cajal body: 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.

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. Eur J Pediatr ; Views Read Edit View history.

Orphanet: Triple A syndrome Allgrove syndrome

Alacrima is usually the earliest manifestation. Glucocorticoid and partial mineralocorticoid deficiency associated with achalasia. Marital separation followed this difficult period. Allgrove syndrome in 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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Do you have any competing interests to synsrome Neurological dysfunction — not universal, but the combination of achalasia and neurological dysfunction should prompt specific questions about symptoms of adrenal insufficiency. Check this box if you wish to receive syndrlme copy of your message. 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.


Hum Mol Genet ; 5: Our patient had no family history of the disorder, indicating that he sydnrome likely to be the first index case with the mutated gene. Clinical suspicion of adrenal insufficiency in the presence of achalasia in any patient, children or adults. Allgrove syndrome was first described in Familial glucocorticoid deficiency with achalasia of the cardia associated with mixed neuropathy, long-tract degeneration and mild dementia.

Other search option s Alphabetical list. The syndrome is highly variable.

Prognosis If untreated, triple A syndrome may have a high morbidity and prognosis can be severe. When presenting in early childhood, alacrima and, possibly, achalasia are the indicative signs; in childhood and adolescence, onset is ayndrome by achalasia and adrenal insufficiency; while in adulthood, presentation is predominantly neurological with autonomous and polyneuropathic involvement.

Summary Epidemiology Prevalence is unknown but less than cases have been published since the first description in Arch Dis Child ; You can help by adding to it. There was significant improvement in his speech, cessation of cough and reported normalisation of eating habits. He also reported extreme difficulties with swallowing, taking an hour to eat a meal, constant cough, poor saliva control and accompanying inhalation of food.

Managed effectively, affected individuals can have a normal lifespan and bear children.

There may also be signs of autonomic dysfunction with AAA, such as pupillary abnormalities, an abnormal reaction to intradermal histamine, abnormal sweating, orthostatic hypotension, and disturbances of the heart rate. Allgroev of the brain of year-old boy with triple-A syndrome showing hypoplastic lacrimal glands yellow arrows.


Following features of achalasia cardia are allgrve. Prevalence is unknown but less than cases have been published since the first description in 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.

Triple-A syndrome

ACTH insensitivity due to adrenocortical atrophy is syndrme resultant clinical picture. Clin Endocrinol ; Direct questioning confirmed alacrima, the patient stating that he never produced tears at any age. Alacrima — ascertaining this usually depends on direct questioning about tear production. The documents contained in this web site are presented for information purposes only. Peripheral motor and sensory neuropathy are common, 10 and may be subtle in childhood.

Erectile dysfunction in our patient was neurological in origin, and so it is not surprising that it failed to respond allgrovd usual therapies. 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 eyndrome quality of life, as seen in our patient. In cases reported previously, adrenal insufficiency was usually diagnosed in the first decade 6 with a few exceptions 278accompanied by hypoglycaemia and increased skin pigmentation.