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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We report a man with longstanding undiagnosed adrenal insufficiency.
At 37, our patient is the oldest reported case. 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 was first described in One year before admission, he had a 2-day history of lethargy, dizziness, and collapse with hypotension.
Serotonin syndrome was proposed as a diagnosis, because he had recently started taking paroxetine for management of presumed psychogenic impotence.
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.
Bulbar involvement and optic atrophy were observed. Computed tomography CT scanning and magnetic resonance imaging of his brain showed no abnormality. No clear diagnosis was reached. Over several years he had sought professional help for erectile dysfunction and ejaculatory failure, from urologists, sexual counsellors, psychiatrists and neurologists, without success.
Marital separation followed this difficult period. Twenty years before these events the patient had developed swallowing difficulties. Achalasia was diagnosed on radiological and endoscopic findings, with symptomatic improvement following pneumatic dilatation.
Orphanet: Triple A syndrome Allgrove syndrome
His family history was unremarkable and did not include consanguinity. Growth and puberty occurred normally. An endocrinological consultation was sought because of increasing lethargy, weakness and reported testicular atrophy. Direct questioning confirmed alacrima, the patient stating that he never produced tears at any age. He also reported extreme difficulties allgroge swallowing, taking an hour to eat a meal, constant cough, poor saliva control and accompanying inhalation of food.
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.
There was significant improvement in his speech, cessation of allgrobe and reported normalisation of eating habits. Plasma renin activity was normal. 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.
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. Such a late diagnosis emphasises the need for assessment of adrenal function in any young person with achalasia or alacrima. Our patient had no family history of the disorder, indicating that he was likely to be the first index case with the mutated gene.
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. When mineralocorticoid function is intact, postural hypotension and electrolyte disturbance, with an acute medical emergency presentation, is less likely. ACTH insensitivity due to adrenocortical atrophy is the resultant clinical picture.
Skin pigmentation varies, and is often missed unless a careful search for buccal, crease and scar pigmentary change is sought. 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 sydnrome and, in older patients, malignant infiltration.
These problems usually result in extensive adrenal destruction and associated mineralocorticoid deficiency, often with a more dramatic presentation of ill health and electrolyte imbalance.
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 to usual therapies. The differential diagnosis includes adrenoleukodystrophy ALD in childhood or adolescence, with either neurological abnormality or adrenal insufficiency as the first presentation.
Adrenomyelodystrophy occurs allgorve patients with this progressive demyelinating disorder first present in adulthood. 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. 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.
Unlike other neurological disorders associated with adrenal insufficiency, neurological change with Allgrove syndrome is extremely slow. 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 syndrom.
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. Neurological dysfunction — not universal, but the combination of achalasia and neurological dysfunction should prompt specific questions about symptoms of adrenal insufficiency. Elevated adrenocorticotrophic hormone and allgtove basal cortisol levels confirm the diagnosis.
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Med J Aust ; 2: Topics Endocrine system diseases. Previous history One year before admission, he had a 2-day history of lethargy, dizziness, and collapse with hypotension. Current admission An endocrinological consultation was sought because of increasing lethargy, weakness and reported testicular atrophy. Discussion This patient with Allgrove syndrome, who developed symptoms of severe life-threatening adrenal insufficiency allgrovd age 36, but retained normal mineralocorticoid function, is the oldest reported case surviving with undiagnosed adrenal insufficiency.
Allgrove syndrome: when a recognisable paediatric disorder occurs in adulthood
Clues to recognising the syndrome Clinical suspicion of adrenal insufficiency in the presence of achalasia in aallgrove patient, children or adults. Familial glucocorticoid deficiency with achalasia of the cardia and deficient tear production. Clin Endocrinol ; Arch Dis Child ; Hum Mol Genet ; 5: Familial glucocorticoid deficiency with achalasia of the cardia associated with mixed syndroem, long-tract degeneration and mild dementia.
Eur J Pediatr ; Allgrove syndrome in adulthood. Muscle Nerve ; J Neurol Neurosurg Psychiatry ; Glucocorticoid and partial mineralocorticoid deficiency associated with achalasia. J Clin Endocrinol Metab ; Do you have any competing interests to declare? Email me when people comment on this article. Responses are now closed for this article.