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 3,032 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

We describe two Hispanic adolescents with Allgrove syndrome (alacrima, achalasia, and sensorimotor polyneuropathy) in whom we documented cholinergic dysfunction by cardiovascular autonomic tests. Both patients had orthostatic hypotension and decreased heart rate variability.
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PMID:Allgrove syndrome: documenting cholinergic dysfunction by autonomic tests. 875 78

A 35-year-old man with a past history of achalasia developed progressive spastic tetraparesis, distal limb atrophy, dysarthria, and dysphagia. A clinical diagnosis of amyotrophic lateral sclerosis (ALS) was considered before neurophysiological investigation, which disclosed a polyneuropathy and a prolonged central conduction time. One year later, the patient developed dysautonomic symptoms. Following confirmation of adrenal insufficiency, a diagnosis of Allgrove syndrome was made. This is a rare case, and we emphasize its clinical similarity with ALS.
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PMID:Allgrove syndrome in adulthood. 1118 Feb 14

Triple-A syndrome is characterized by triad of adrenocorticotrophic hormone (ACTH)-resistant adrenal insufficiency, alacrimia and achalasia cardia. It is a rare disease and inherited by autosomal recessive pattern. Allgrove syndrome is characterized by mutation(s) in AAAS gene, located on chromosome 12q13, that codes for ALADIN protein. Most mutations produce a truncated protein, although missense and point-mutations have also been reported. Some patients with Triple-A syndrome may not have mutations in AAAS gene; in those there is no specific genotype-phenotype correlation. Although alacrimia is not the usual presenting manifestation, probably it is the earliest and most consistent feature. Achalasia cardia and adrenal insufficiency are the early and usual presenting manifestations. Neurological features appear at later age and autonomic manifestations are the most common neurological disorder. Polyneuropathy, amyotrophy, optic atrophy are the other common neurological problems. Alacrimia is diagnosed by Schirmer's test while ahalasia cardia and adrenal insufficiency are best diagnosed by esophageal monometry and ACTH stimulated cortisol levels respectively. Alacrimia is treated with artificial tears while achalasia cardia with either pneumatic dilatation or Heller's myotomy. Adrenal insufficiency is treated with glucocorticoid and if necessary mineralocorticoid replacement.
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PMID:Triple-A syndrome. 2068 90

Allgrove (Triple A) syndrome is a rare autosomal recessive disorder characterized by cardinal features of adrenal insufficiency due to adrenocorticotropic hormone (ACTH) resistance, achalasia, and alacrimia. It is frequently associated with neurological manifestations like polyneuropathy. Since its first description by Allgrove in 1978, approximately 100 cases have been reported in the literature. Here we report an 18-year-old boy diagnosed as having Allgrove syndrome, with ACTH resistant adrenal insufficiency, achalasia, alacrimia, and severe motor polyneuropathy. Alacrimia was the earliest feature evident at the age of 8 years. He presented with achalasia and adrenal insufficiency at 12 and 18 years respectively and developed neurological symptoms in the form of severe muscle wasting at the age of 15 years. Patients with Allgrove syndrome usually manifest adrenal insufficiency and achalasia during first decade of life. Our patient manifested adrenal insufficiency and achalasia in the second decade and manifested neurological dysfunction before adrenal dysfunction.
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PMID:Allgrove (Triple A) Syndrome: A Case Report from the Kashmir Valley. 2635 89

Triple A syndrome or Allgrove's syndrome is a rare autosomal recessive disorder usually manifested with three main clinical features, i.e. achalasia, alacrimation and adrenal inadequacy. Sometimes, it presents with polyneuropathy and neurological complications. Here, we report a case of a 7-year girl presenting with features of weight loss who was diagnosed with adrenal insufficiency at the age of 7 years while achalasia was diagnosed at the age of 3 years. First manifestation was achalasia and at that time, alacrimation was also defected. A 7-year XX female child presented at Endocrine Clinic of Armed Forces Institute of Pathology (AFIP) with hyperpigmentation, easy fatigue and weight loss. She had one sibling with same complaints and one brother died at the age of 3 years because of adrenal insufficiency. Her laboratory investigations revealed low cortisol level and high ACTH level, with inadequate response as well as short synacthen test (dynamic function test). This is a first case of Allgrove's syndrome reported in a tertiary hospital setting of Pakistan. Allgrove's syndrome should be considered in patients who report with adrenal insufficiency.
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PMID:A Child with Weight Loss and Alacrimation: Triple A Syndrome. 3114 22