Recurrent pulmonary infection leads to the diagnosis of triple A syndrome: a case report
Abstract 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 inherit...
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| Format: | Article |
| Language: | English |
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BMC
2022-07-01
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| Series: | Journal of Medical Case Reports |
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| Online Access: | https://doi.org/10.1186/s13256-022-03509-1 |
| _version_ | 1818015099434041344 |
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| author | Sawssan Ali M. Subhi Murad Humam Hamdan Wael Nakawa |
| author_facet | Sawssan Ali M. Subhi Murad Humam Hamdan Wael Nakawa |
| author_sort | Sawssan Ali |
| collection | DOAJ |
| description | Abstract 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/m2), 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. |
| first_indexed | 2024-04-14T06:53:39Z |
| format | Article |
| id | doaj.art-ba14dc8c03014965a129f121aa8c314b |
| institution | Directory Open Access Journal |
| issn | 1752-1947 |
| language | English |
| last_indexed | 2024-04-14T06:53:39Z |
| publishDate | 2022-07-01 |
| publisher | BMC |
| record_format | Article |
| series | Journal of Medical Case Reports |
| spelling | doaj.art-ba14dc8c03014965a129f121aa8c314b2022-12-22T02:06:58ZengBMCJournal of Medical Case Reports1752-19472022-07-011611510.1186/s13256-022-03509-1Recurrent pulmonary infection leads to the diagnosis of triple A syndrome: a case reportSawssan Ali0M. Subhi Murad1Humam Hamdan2Wael Nakawa3Pediatric Pulmonology, Damascus University Children’s HospitalFaculty of Medicine, Damascus UniversityFaculty of Medicine, Damascus UniversityFaculty of Medicine, Damascus UniversityAbstract 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/m2), 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.https://doi.org/10.1186/s13256-022-03509-1AlacrimaAchalasiaAdrenal insufficiencyTriple A syndromeCase report |
| spellingShingle | Sawssan Ali M. Subhi Murad Humam Hamdan Wael Nakawa Recurrent pulmonary infection leads to the diagnosis of triple A syndrome: a case report Journal of Medical Case Reports Alacrima Achalasia Adrenal insufficiency Triple A syndrome 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 | Alacrima Achalasia Adrenal insufficiency Triple A syndrome Case report |
| url | https://doi.org/10.1186/s13256-022-03509-1 |
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