Document Detail


Clinical and molecular genetic findings in a 6-year-old Bosnian boy with triple A syndrome.
MedLine Citation:
PMID:  18551317     Owner:  NLM     Status:  MEDLINE    
Abstract/OtherAbstract:
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.
Authors:
Alma Toromanovic; Husref Tahirovic; Tatjana Milenkovic; Katrin Koehler; Barbara Kind; Dragan Zdravkovic; Mensuda Hasanhodzic; Angela Huebner
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Publication Detail:
Type:  Case Reports; Journal Article; Research Support, Non-U.S. Gov't     Date:  2008-06-13
Journal Detail:
Title:  European journal of pediatrics     Volume:  168     ISSN:  1432-1076     ISO Abbreviation:  Eur. J. Pediatr.     Publication Date:  2009 Mar 
Date Detail:
Created Date:  2009-02-02     Completed Date:  2009-05-27     Revised Date:  -    
Medline Journal Info:
Nlm Unique ID:  7603873     Medline TA:  Eur J Pediatr     Country:  Germany    
Other Details:
Languages:  eng     Pagination:  317-20     Citation Subset:  IM    
Affiliation:
Department of Pediatrics, University Clinical Center, Trnovac bb, 75000, Tuzla, Bosnia and Herzegovina. almatoromanovic@bih.net.ba
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MeSH Terms
Descriptor/Qualifier:
Addison Disease / 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:
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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