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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Skin pigmentation varies, and is often missed unless a careful search for buccal, crease and scar pigmentary change is sought.

The gold standard investigation is a 24 hours manometry of oesophagus. 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.

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. At 37, our patient is the oldest reported case. J Clin Endocrinol Metab ; 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.

Summary and related texts. Alacrima is usually the earliest manifestation. Our patient had no family history of the disorder, indicating that he was likely to be the first index case with the mutated gene.

Triple-A syndrome – Wikipedia

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 syndroome observed, for example at the onset of the disease. The syndrome is highly variable. Do you have any competing interests to declare? Triple-A syndrome or AAA syndromealso known as achalasia-addisonianism-alacrima syndrome or Allgrove syndrome[1] is syndro,e rare autosomal recessive congenital disorder.


Med J Aust ; 2: This page was last edited on 28 Augustat Email me when people comment on this article.

On plain x Ray an absence of fundal gas shadow, widened mediastinum and an air fluid aallgrove in mediastinum is also seen. Autosomal recessive disorders Syndromes affecting the gastrointestinal tract Congenital disorders Rare syndromes Nucleus diseases Medical triads Syndromes affecting the eyes Syndromes affecting the endocrine system.

Triple-A syndrome

Only comments written in English can be processed. Prevalence is unknown but less than cases have been published since the first description in Elevated adrenocorticotrophic hormone and low basal cortisol levels confirm the diagnosis.

Prognosis If untreated, triple A syndrome may have a high morbidity and prognosis can be severe. Glucocorticoid and partial mineralocorticoid deficiency syndromf with achalasia.

Alacrima — ascertaining this usually depends on direct questioning about tear production. Triple A syndrome is a very rare multisystem disease characterized by adrenal insufficiency with isolated glucocorticoid deficiency, achalasia, alacrima, autonomic dysfunction and neurodegeneration. 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.

We report a man with longstanding undiagnosed adrenal insufficiency. Indian Journal of Gastroenterology. Over several years he had sought professional help for erectile dysfunction and ejaculatory failure, from urologists, sexual counsellors, psychiatrists and neurologists, without success.

Publication of your online response is subject to the Xyndrome Journal of Australia ‘s editorial discretion. Current admission An xllgrove consultation was sought because of increasing lethargy, weakness and reported testicular atrophy. 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.


The syndrome involves achalasiaaddisonianism adrenal insufficiency of primary typeand alacrima insufficiency of tears. Growth and puberty occurred normally. Neurological manifestations are diverse: MRI of the brain of year-old boy with triple-A syndrome showing hypoplastic lacrimal glands yellow arrows.

Orphanet: Triple A syndrome Allgrove syndrome

In other projects Wikimedia Commons. Responses are now closed for this article. D ICD – Neurological dysfunction — not universal, but the combination of achalasia and neurological dysfunction should prompt specific questions about symptoms of adrenal insufficiency. Clin Endocrinol ; Peripheral motor and sensory neuropathy are common, 10 and may be subtle in childhood. Basic Search Advanced search search. His family history was unremarkable and did not include consanguinity. With adequate cortisol replacement, monitoring of ACTH levels and education to ensure appropriate increases in corticosteroid treatment during intercurrent illness or anaesthesia, the prognosis for health and quality of life is improved.

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. Hum Mol Genet ; 5: Additional information Further information on this allgrlve Classification s 6 Gene s 3 Clinical signs and symptoms Publications in PubMed Other website s 5.

Treacher Collins syndrome Spinocerebellar ataxia 7 Cajal body: Eur J Pediatr ; 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.

The allgrovve of Triple A syndrome varies between infancy and adulthood. Clinical description The onset of Triple A syndrome varies between infancy and adulthood. An endocrinological consultation was sought because of increasing lethargy, weakness and reported testicular atrophy.