Triple-A syndrome with prominent ophthalmic features and a novel mutation in the AAAS gene: a case report.
BMC Ophthalmol
; 4: 7, 2004 Jun 24.
Article
em En
| MEDLINE
| ID: mdl-15217518
ABSTRACT
BACKGROUND:
Triple-A syndrome (Allgrove syndrome) is an autosomal recessive disorder characterized by adrenal insufficiency, alacrima, achalasia, and - occasionally - autonomic instability. Mutations have been found in the AAAS gene on 12q13. CASE PRESENTATION We present the case of a 12 year-old boy with classic systemic features of triple-A syndrome and several prominent ophthalmic features, including accommodative spasm, dry eye, superficial punctate keratopathy, and pupillary hypersensitivity to dilute pilocarpine. MRI showed small lacrimal glands bilaterally. DNA sequencing of PCR-amplified fragments from the 16 exons of the AAAS gene revealed compound heterozygosity for a new, out-of-frame 5-bp deletion in exon 15, c1368-1372delGCTCA, and a previously-described nonsense mutation in exon 9, c938C>T, R286X.CONCLUSIONS:
In addition to known ophthalmic manifestations, triple-A syndrome can present with accommodative dysregulation and ocular signs of autonomic dysfunction.
Texto completo:
1
Base de dados:
MEDLINE
Assunto principal:
Doenças do Sistema Nervoso Autônomo
/
Síndromes do Olho Seco
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Proteínas
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Acalasia Esofágica
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Transtornos da Motilidade Ocular
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Insuficiência Adrenal
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Mutação
Tipo de estudo:
Diagnostic_studies
Limite:
Child
/
Humans
/
Male
Idioma:
En
Ano de publicação:
2004
Tipo de documento:
Article