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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Responses are now closed for this article. Hum Mol Genet ; 5: 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. The onset of Triple A syndrome varies between infancy and adulthood.

The syndrome involves achalasiaaddisonianism adrenal insufficiency of primary typeand alacrima insufficiency of tears. Views Read Edit View history.

For all other comments, please send your remarks via contact us. Adrenal insufficiency may cause hypoglycemia and seizures. Growth and puberty occurred normally. Computed tomography CT scanning and magnetic resonance imaging of his brain showed no abnormality. 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 lalgrove the heart rate.

Serotonin syndrome was proposed as a diagnosis, because he had recently started taking paroxetine for management of presumed psychogenic impotence.

Orphanet: Triple A syndrome Allgrove syndrome

Previous history One year before admission, he had a 2-day history of lethargy, dizziness, and collapse with hypotension. His family history was unremarkable and did not include consanguinity. A diagnosis of primary adrenal insufficiency usually includes consideration of an autoimmune basis where adrenal antibody status should be tested with or alogrove other pointers to polyautoimmune endocrinopathyinfective causes tuberculosis, viruses and mycoses and, in older patients, allrgove infiltration.

Autosomal syndrrome disorders Syndromes affecting the gastrointestinal tract Congenital disorders Rare syndromes Nucleus diseases Medical triads Syndromes affecting the eyes Syndromes affecting the endocrine system. The appropriate management of the disease ameliorates the prognosis significantly.


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.

Triple-A syndrome

ACTH insensitivity due to adrenocortical atrophy is the resultant clinical picture. The differential diagnosis includes adrenoleukodystrophy ALD in childhood or adolescence, with either neurological abnormality or adrenal insufficiency as the first presentation.

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 neurological features.

MRI of the brain of year-old boy with triple-A syndrome showing hypoplastic lacrimal glands yellow arrows. Treatment for Triple A syndrome includes hydrocortisone substitutive therapy, esophageal dilatation or myotomy of the lower esophageal sphincter and artificial tear drops. Muscle Nerve ; Clues to recognising the syndrome Clinical suspicion of adrenal insufficiency in the presence of achalasia in any patient, children or adults.

Alacrima — ascertaining this usually depends on direct questioning about tear production. We report a man with longstanding undiagnosed adrenal insufficiency. 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.

Only comments written in English can be processed. Differential diagnosis 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. Peripheral motor and sensory neuropathy are common, 10 and may be subtle in childhood. It shows non relaxation of lower oesophageal sphincter, increased tone of oesophageal sphincteratonic oesophagus.

Managed effectively, affected individuals can have a normal lifespan and bear children. Diagnostic methods Diagnosis is based on clinical examination and adrenal function testing. Alacrima, when present, is the first clinical sign, manifesting in the first months of life, but achalasia of the cardia, leading to dysphagia, is usually the first relevant symptom leading to diagnosis.


Prevalence is unknown but less than cases have been published since the first description in Achalasia was diagnosed on radiological and endoscopic findings, with symptomatic improvement following pneumatic dilatation. There was significant improvement in his speech, cessation of cough and reported normalisation of eating habits. In other projects Wikimedia Commons.

Familial glucocorticoid deficiency with achalasia of the cardia and deficient tear production. Summary and related texts. When presenting in early childhood, alacrima and, possibly, achalasia are the indicative signs; in childhood and adolescence, onset is characterized by achalasia and adrenal insufficiency; while in adulthood, presentation is predominantly neurological with autonomous and polyneuropathic involvement. Plasma renin activity was normal.

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.

Allgrove syndrome: when a recognisable paediatric disorder occurs in adulthood

The documents contained in this web site are presented for information purposes only. Familial syndtome deficiency with achalasia of the cardia associated with mixed neuropathy, long-tract degeneration and mild dementia.

Other search option s Alphabetical list. Unlike other neurological disorders associated with adrenal insufficiency, neurological change with Allgrove syndrome is extremely slow. Elevated adrenocorticotrophic hormone and low basal cortisol levels confirm the diagnosis.

Allgrove syndrome in adulthood. Although neurological disorder constitutes part of the condition, the severe and progressive muscle weakness of long-term undiagnosed adrenal insufficiency syncrome a major contribution to reduced motor function and quality of life, as seen in allgrobe patient.

Allgrove syndrome was first described in Topics Endocrine system diseases. Clin Endocrinol ; 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.