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Clinical and molecular genetic findings in a 6-year-old Bosnian boy with triple A syndrome.
- Source :
- European Journal of Pediatrics; Mar2009, Vol. 168 Issue 3, p317-320, 4p, 1 Color Photograph, 1 Chart, 1 Graph
- Publication Year :
- 2009
-
Abstract
- 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. [ABSTRACT FROM AUTHOR]
- Subjects :
- SYNDROMES
PEPTIDE hormones
DISEASES
GENOTYPE-environment interaction
GENETIC research
GENETIC polymorphisms
HYDROCORTISONE
ADDISON'S disease
CARRIER proteins
CATHETERIZATION
ESOPHAGEAL achalasia
COMPARATIVE studies
DISEASE complications
GENEALOGY
GENETIC techniques
HORMONES
LACRIMAL apparatus diseases
RESEARCH methodology
MEDICAL cooperation
GENETIC mutation
NERVE tissue proteins
RESEARCH
TWINS
PHENOTYPES
EVALUATION research
TREATMENT effectiveness
SEQUENCE analysis
GENOTYPES
DIAGNOSIS
THERAPEUTICS
Subjects
Details
- Language :
- English
- ISSN :
- 03406199
- Volume :
- 168
- Issue :
- 3
- Database :
- Complementary Index
- Journal :
- European Journal of Pediatrics
- Publication Type :
- Academic Journal
- Accession number :
- 36280240
- Full Text :
- https://doi.org/10.1007/s00431-008-0758-2