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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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.

Adrenal insufficiency may cause hypoglycemia and seizures. The appropriate management of the disease ameliorates the prognosis significantly. Bird beak sign and rat tail sign can be appreciated on barium swallow. Volume Issue 2.

No clear diagnosis was reached. Peripheral motor and sensory neuropathy are common, 10 and may be subtle in childhood. Diagnosis is based on clinical examination and adrenal function testing. Clin Endocrinol ; 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. Clues to recognising the syndrome Clinical suspicion of adrenal insufficiency in the presence of achalasia in any patient, children or adults.

At 37, our patient is allgrove oldest reported case. There was significant improvement in his speech, cessation of cough and reported normalisation of eating habits.

Summary and related texts. Alacrima is usually the earliest manifestation. Responses are now closed for this article. Triple A syndrome is a very rare multisystem disease characterized by adrenal insufficiency with isolated glucocorticoid deficiency, achalasia, alacrima, autonomic dysfunction and neurodegeneration.


Summary Epidemiology Prevalence is unknown but less than cases have been published since the first description in In other projects Wikimedia Commons. Over several years he had sought professional help for erectile dysfunction and ejaculatory failure, from urologists, sexual counsellors, psychiatrists and neurologists, without success. Clinical description The onset of Triple A syndrome varies between infancy and adulthood.

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. On plain x Ray an absence of fundal gas shadow, widened mediastinum and an air fluid level in mediastinum is also seen. Computed tomography CT scanning and magnetic resonance imaging of his brain showed no abnormality.

Allgrove syndrome in adulthood. Arch Dis Child ; Additional information Further information on this disease Classification s 6 Gene s 3 Clinical signs and symptoms Publications in PubMed Other website s 5.

He also reported extreme difficulties with swallowing, taking an hour to eat a meal, constant cough, poor saliva control and accompanying inhalation of syndroke. The syndrome involves achalasiaaddisonianism adrenal insufficiency of primary typeand alacrima insufficiency of tears. A neurological report described mixed motor neurone abnormalities, with symmetrical four-limb weakness, predominantly distal muscle wasting, bilateral pes cavus, symmetrical hyperreflexia and positive Lalgrove reflexes.

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Orphanet: Triple A syndrome Allgrove syndrome

Muscle Nerve ; In most cases, there is no family history of it. Views Read Edit View history. Topics Endocrine system diseases. Other search option s Alphabetical list. Eur J Pediatr ; 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.


Use the Ayndrome search for more specific terms. 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.

Elevated adrenocorticotrophic hormone and low basal cortisol levels confirm the diagnosis. MRI of the brain of year-old boy with triple-A syndrome showing hypoplastic lacrimal glands yellow arrows.

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

For all other comments, please send your remarks via contact us. Managed effectively, affected individuals can have a normal lifespan and bear children. ACTH insensitivity due to adrenocortical atrophy is the resultant clinical picture. Erectile dysfunction in our patient was neurological in origin, and so it is not surprising that it failed to respond to usual therapies.

Allgrove syndrome: when a recognisable paediatric disorder occurs in adulthood

Familial glucocorticoid deficiency with achalasia of the cardia and deficient tear production. 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.

Unlike other neurological disorders associated with adrenal insufficiency, neurological change with Allgrove syndrome is extremely slow.

We report a man with longstanding undiagnosed adrenal insufficiency. Marital separation followed this difficult period. Familial glucocorticoid deficiency with achalasia of the cardia associated with mixed neuropathy, long-tract degeneration and mild dementia.