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Recurrent pulmonary infection leads to the diagnosis of triple A syndrome: a case report
INTRODUCTION: Triple A syndrome is a very uncommon disease marked by a triad of adrenocorticotrophic hormone (ACTH)—resistant features: adrenal insufficiency, alacrimia, and achalasia. It presents in several clinical forms with undetermined incidence and shows an autosomal pattern of inheritance. It...
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Formato: | Online Artículo Texto |
Lenguaje: | English |
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BioMed Central
2022
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9336103/ https://www.ncbi.nlm.nih.gov/pubmed/35902876 http://dx.doi.org/10.1186/s13256-022-03509-1 |
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author | Ali, Sawssan Murad, M. Subhi Hamdan, Humam Nakawa, Wael |
author_facet | Ali, Sawssan Murad, M. Subhi Hamdan, Humam Nakawa, Wael |
author_sort | Ali, Sawssan |
collection | PubMed |
description | INTRODUCTION: Triple A syndrome is a very uncommon disease marked by a triad of adrenocorticotrophic hormone (ACTH)—resistant features: adrenal insufficiency, alacrimia, and achalasia. It presents in several clinical forms with undetermined incidence and shows an autosomal pattern of inheritance. It is caused by a variety of mutations in the AAAS genes which encode a protein of unknown function called ALADIN. Diagnosis depends on clinical manifestations, laboratory test results, imaging and endoscopic findings, and Schirmer’s test. The treatment includes artificial tears, glucocorticoid replacement therapy, and treatment of achalasia. CASE PRESENTATION: A 12-year-old Syrian girl was referred to Damascus University’s Children’s Hospital for recurrent pulmonary infection. Her mother had noted an absence of tears when crying since birth, diffused pigmentations since birth, especially on the cheeks and genitals, recurrent vomiting of both solid and liquid foods, and recurrent exacerbations of bronchitis and recurrent pneumonia. ACTH and blood cortisol levels indicated an adrenal insufficiency, chest computed tomography and barium swallow test results indicated achalasia, tear break-up time as well as eye examination indicated alacrimia, which led to the diagnosis of triple A syndrome. Treatment included Heller cardiomyotomy, artificial tears, and hydrocortisone (15–30 mg/m(2)), as well as continuous observation of ACTH levels. DISCUSSION: Triple A syndrome (which is characterized by the triad of achalasia, alacrima, adrenal insufficiency) is a rare multisystem disease. It has a genetic background and is potentially fatal. This syndrome is often misdiagnosed, especially in regions where it is expected to have a high prevalence rate (regions with documented cases and high rate of consanguinous marriage), This study is the first documentation of triple A syndrome in Syria, a country where consanguineous marriage is common. This syndrome should be kept in mind when a child presents with one or more of its characteristic features. |
format | Online Article Text |
id | pubmed-9336103 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2022 |
publisher | BioMed Central |
record_format | MEDLINE/PubMed |
spelling | pubmed-93361032022-07-30 Recurrent pulmonary infection leads to the diagnosis of triple A syndrome: a case report Ali, Sawssan Murad, M. Subhi Hamdan, Humam Nakawa, Wael J Med Case Rep Case Report INTRODUCTION: Triple A syndrome is a very uncommon disease marked by a triad of adrenocorticotrophic hormone (ACTH)—resistant features: adrenal insufficiency, alacrimia, and achalasia. It presents in several clinical forms with undetermined incidence and shows an autosomal pattern of inheritance. It is caused by a variety of mutations in the AAAS genes which encode a protein of unknown function called ALADIN. Diagnosis depends on clinical manifestations, laboratory test results, imaging and endoscopic findings, and Schirmer’s test. The treatment includes artificial tears, glucocorticoid replacement therapy, and treatment of achalasia. CASE PRESENTATION: A 12-year-old Syrian girl was referred to Damascus University’s Children’s Hospital for recurrent pulmonary infection. Her mother had noted an absence of tears when crying since birth, diffused pigmentations since birth, especially on the cheeks and genitals, recurrent vomiting of both solid and liquid foods, and recurrent exacerbations of bronchitis and recurrent pneumonia. ACTH and blood cortisol levels indicated an adrenal insufficiency, chest computed tomography and barium swallow test results indicated achalasia, tear break-up time as well as eye examination indicated alacrimia, which led to the diagnosis of triple A syndrome. Treatment included Heller cardiomyotomy, artificial tears, and hydrocortisone (15–30 mg/m(2)), as well as continuous observation of ACTH levels. DISCUSSION: Triple A syndrome (which is characterized by the triad of achalasia, alacrima, adrenal insufficiency) is a rare multisystem disease. It has a genetic background and is potentially fatal. This syndrome is often misdiagnosed, especially in regions where it is expected to have a high prevalence rate (regions with documented cases and high rate of consanguinous marriage), This study is the first documentation of triple A syndrome in Syria, a country where consanguineous marriage is common. This syndrome should be kept in mind when a child presents with one or more of its characteristic features. BioMed Central 2022-07-28 /pmc/articles/PMC9336103/ /pubmed/35902876 http://dx.doi.org/10.1186/s13256-022-03509-1 Text en © The Author(s) 2022 https://creativecommons.org/licenses/by/4.0/Open AccessThis article is licensed under a Creative Commons Attribution 4.0 International License, which permits use, sharing, adaptation, distribution and reproduction in any medium or format, as long as you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons licence, and indicate if changes were made. The images or other third party material in this article are included in the article's Creative Commons licence, unless indicated otherwise in a credit line to the material. If material is not included in the article's Creative Commons licence and your intended use is not permitted by statutory regulation or exceeds the permitted use, you will need to obtain permission directly from the copyright holder. To view a copy of this licence, visit http://creativecommons.org/licenses/by/4.0/ (https://creativecommons.org/licenses/by/4.0/) . The Creative Commons Public Domain Dedication waiver (http://creativecommons.org/publicdomain/zero/1.0/ (https://creativecommons.org/publicdomain/zero/1.0/) ) applies to the data made available in this article, unless otherwise stated in a credit line to the data. |
spellingShingle | Case Report Ali, Sawssan Murad, M. Subhi Hamdan, Humam Nakawa, Wael Recurrent pulmonary infection leads to the diagnosis of triple A syndrome: a case report |
title | Recurrent pulmonary infection leads to the diagnosis of triple A syndrome: a case report |
title_full | Recurrent pulmonary infection leads to the diagnosis of triple A syndrome: a case report |
title_fullStr | Recurrent pulmonary infection leads to the diagnosis of triple A syndrome: a case report |
title_full_unstemmed | Recurrent pulmonary infection leads to the diagnosis of triple A syndrome: a case report |
title_short | Recurrent pulmonary infection leads to the diagnosis of triple A syndrome: a case report |
title_sort | recurrent pulmonary infection leads to the diagnosis of triple a syndrome: a case report |
topic | Case Report |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9336103/ https://www.ncbi.nlm.nih.gov/pubmed/35902876 http://dx.doi.org/10.1186/s13256-022-03509-1 |
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