Triple A syndrome

Menon, Sunil K.; Bangar, Tushar R; Kaba, Amir; Shah, Rakesh; Menon, P. S. N.; Shah, Nalini

doi:10.1007/s12098-008-0202-7

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“…This mutated product protein fails to localise nuclear pore complexes which forms a selective channel between cytoplasm and nucleus and so it remains mostly in cytoplasm. 1 Its exact prevalence is unknown as case reports are a rarity. It usually manifests in the first decade of life.…”

Section: Discussionmentioning

confidence: 99%

Triple A syndrome: a case report

Manoria

2020

Trop Doct

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Triple A syndrome is a rare autosomal recessive disorder characterised by alacrimia, achalasia and adrenal failure. It was first reported by Allgrove in 1978 and 100 cases have been reported worldwide. This case report concerns a 24-year-old woman who was referred for evaluation of dysphagia and was finally diagnosed as such a case. A high degree of suspicion enables all the components of this syndrome to be searched for, as early diagnosis can reduce the morbidity and mortality.

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Section: Discussionmentioning

confidence: 99%

Triple A syndrome: a case report

Manoria

2020

Trop Doct

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show abstract

“…1 Allgrove's syndrome was first diagnosed in 1978 in two brothers with adrenal hormone deficiency and achalasia. 2 Allgrove's syndrome manifests by three main cardinal symptoms. Nervous system abnormalities due to involvement of focal, autonomic sensory and central systems are regularly noted in this rare disorder.…”

Section: Introductionmentioning

confidence: 99%