| Clinical and molecular genetic findings in a 6-year-old Bosnian boy with triple A syndrome. | |
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MedLine Citation:
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PMID: 18551317 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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The triple A syndrome is a rare autosomal recessive disease that is characterised by the triad of adrenocorticotropin (ACTH)-resistant adrenal insufficiency, achalasia and alacrima. In most patients, neurological and dermatological abnormalities are associated features. We report on the first Bosnian patient with triple A syndrome. Endocrine investigation confirmed primary adrenal insufficiency at the age of 5.8 years. Two months later, achalasia was diagnosed, and in the presence of alacrima, the patient satisfies the diagnostic criteria of triple A syndrome. In addition, a large number of associated neurological and dermatological features were present in this patient. Moreover, he has dysmorphic facial features, which have not been previously described in triple A syndrome. Triple A syndrome was confirmed by molecular analysis, revealing a nonsense mutation p.W84X in the AAAS gene. The parents are both heterozygous carriers of the mutation. The affected twin brother unfortunately died from hypoglycaemic shock, despite a normal cortisol rise in an ACTH stimulation test. Further, triple A syndrome patients carrying the identical homozygous p.W84X mutation have to be studied to assess a genotype-phenotype relationship for this mutation. |
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Authors:
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Alma Toromanovic; Husref Tahirovic; Tatjana Milenkovic; Katrin Koehler; Barbara Kind; Dragan Zdravkovic; Mensuda Hasanhodzic; Angela Huebner |
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Publication Detail:
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Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't Date: 2008-06-13 |
Journal Detail:
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Title: European journal of pediatrics Volume: 168 ISSN: 1432-1076 ISO Abbreviation: Eur. J. Pediatr. Publication Date: 2009 Mar |
Date Detail:
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Created Date: 2009-02-02 Completed Date: 2009-05-27 Revised Date: - |
Medline Journal Info:
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Nlm Unique ID: 7603873 Medline TA: Eur J Pediatr Country: Germany |
Other Details:
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Languages: eng Pagination: 317-20 Citation Subset: IM |
Affiliation:
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Department of Pediatrics, University Clinical Center, Trnovac bb, 75000, Tuzla, Bosnia and Herzegovina. almatoromanovic@bih.net.ba |
Export Citation:
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| MeSH Terms | |
Descriptor/Qualifier:
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Addison Disease
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diagnosis*,
drug therapy,
genetics* Balloon Dilatation Child Child, Preschool Codon, Nonsense DNA Mutational Analysis Esophageal Achalasia / diagnosis*, genetics*, therapy Fatal Outcome Genotype Homozygote Hormones / therapeutic use Humans Hydrocortisone / therapeutic use Lacrimal Apparatus Diseases / diagnosis*, genetics* Male Nerve Tissue Proteins / genetics Nuclear Pore Complex Proteins / genetics Pedigree Phenotype Syndrome Twins |
| Chemical | |
Reg. No./Substance:
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0/AAAS protein, human; 0/Codon, Nonsense; 0/Hormones; 0/Nerve Tissue Proteins; 0/Nuclear Pore Complex Proteins; 50-23-7/Hydrocortisone |
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