Triple-A syndrome: A rare cause of addisonian pigmentation

Saha, Abhijit; Dhar, Sandipan; Roy, SwapanKumar; Ghosh, Apurba

doi:10.4103/ijpd.ijpd_155_21

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2023

2024

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“…Different AAAS mutations lead to nonfunctional ALADIN protein and its mislocalization in the cytoplasm, hence no longer available at the nuclear pore. This protein is highly expressed in the brain, gastrointestinal tract, and adrenal cortex, the major sites of disease expression [3]. Early recognition of adrenal insufficiency is very much important because delay in initiation of steroid may lead to recurrent hypoglycemia, neurological impairment and fatal consequences.…”

Section: Discussionmentioning

confidence: 99%

Rare Cause of Generalised Pigmentation

2023

PSMPH

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Section: Discussionmentioning

confidence: 99%

Rare Cause of Generalised Pigmentation

2023

PSMPH

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Two siblings with triple A syndrome

Waddankeri,

Arora

2024

BMJ Case Rep

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Triple A syndrome is a rare autosomal recessive disorder presenting as adrenal insufficiency, achalasia and alacrima, often accompanied by neurological complications. We present the cases of two siblings, a girl (patient 1) and a boy (patient 2) in their early adolescence, born from a consanguineous marriage. At the age of 4, patient 1 developed progressive dysphagia when consuming both solid and liquid foods, while patient 2 began displaying abnormal gait by 2 years. Both siblings were confirmed to have alacrima and achalasia. Endocrinological assessments unveiled adrenal insufficiency and resistance to adrenocorticotropin hormone, and genetic analysis revealed a homozygous pathogenic variant of the achalasia-adrenal insufficiency-alacrima syndrome gene. Clinical suspicion of triple A syndrome and early investigation on onset of alacrima are essential for prompt diagnosis and management.

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Triple-A syndrome: A rare cause of addisonian pigmentation

Cited by 2 publications

References 8 publications

Rare Cause of Generalised Pigmentation

Rare Cause of Generalised Pigmentation

Two siblings with triple A syndrome

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