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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Over several years he had sought professional help for erectile dysfunction and ejaculatory failure, from urologists, sexual counsellors, syyndrome and neurologists, without success. For all other comments, please send your remarks via contact us. Managed effectively, affected individuals can have a normal lifespan and bear children. When mineralocorticoid function is intact, postural hypotension and electrolyte disturbance, with an acute medical emergency presentation, is less likely.

Health care resources for this disease Expert centres Diagnostic tests 22 Patient organisations 35 Orphan drug s 4. Check this box if you wish to receive a copy of your message. Specialised Social Services Eurordis directory.

Allgrove syndrome: when a recognisable paediatric disorder occurs in adulthood

Plasma renin activity was normal. Eur J Pediatr ; Allgrove syndrome in adulthood. Familial glucocorticoid deficiency with achalasia of syndorme cardia associated with mixed neuropathy, long-tract degeneration and mild dementia.


At 37, our patient is the oldest reported case.

In other projects Wikimedia Syndromr. 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.

Orphanet: Triple A syndrome Allgrove syndrome

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. Following features of achalasia cardia are seen. Arch Dis Child ; 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.

Neurological dysfunction — not universal, but the combination of achalasia and neurological dysfunction should prompt specific questions about symptoms of adrenal insufficiency.

Triple-A syndrome – Wikipedia

Current admission An endocrinological consultation was sought because of increasing lethargy, weakness and reported testicular atrophy. Twenty years before these events the patient had developed swallowing difficulties.

Do you have any competing interests to declare? Bird beak sign and rat tail sign can be appreciated on barium swallow. The syndrome is highly variable. J Clin Endocrinol Metab ; The onset of Triple A syndrome varies between infancy and adulthood.

Triple-A syndrome

Triple A syndrome is a very rare multisystem disease characterized by adrenal insufficiency with isolated glucocorticoid deficiency, achalasia, alacrima, autonomic dysfunction and neurodegeneration.


Discussion This patient with Allgrove syndrome, who developed symptoms of severe life-threatening adrenal insufficiency at age 36, syndrpme retained normal mineralocorticoid function, is the oldest reported case surviving with undiagnosed adrenal insufficiency. 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.

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.

Basic Search Advanced search search. In most cases, there is no family history of it. An endocrinological consultation was sought aklgrove of increasing lethargy, weakness and reported testicular atrophy.

Summary Epidemiology Prevalence is unknown but less than cases have been published since the first description in Synrome problems usually result in extensive adrenal destruction and associated mineralocorticoid deficiency, often with a more dramatic presentation of ill health and electrolyte imbalance. Glucocorticoid and partial mineralocorticoid deficiency associated with achalasia. Muscle Nerve ; Elevated adrenocorticotrophic hormone and low basal cortisol levels confirm the diagnosis.

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