Abstract
Background/Aims: A 33-year-old man was referred for the first time to the Division of Neurology because of the presence and progression of neurological symptoms. Dysphagia, weakness, reduced tear production, and nasal speech were present. In order to point the attention of late-onset triple A syndrome we describe this case and review the literature. Methods: Hormonal and biochemical evaluation, Schirmer test, tilt test and genetic testing for AAAS gene mutations. Results: Late-onset triple A syndrome caused by a novel homozygous missense mutation in the AAAS gene (A167V in exon 6) was diagnosed at least 17 years after symptom onset. Conclusions: The association between typical signs and symptoms of triple A syndrome should suggest the diagnosis even if they manifest in adulthood. The diagnosis should be confirmed by Schirmer test, endocrine testing (both basal and dynamic), genetic analysis, and detailed gastroenterological and neurological evaluations. Awareness of the possible late onset of the disease and of diagnosis in adulthood is still poor among clinicians, the acquaintance with the disease is more common among pediatricians. The importance of an adequate multidisciplinary clinical approach, dynamic testing for early diagnosis of adrenal insufficiency and periodical reassessment of adrenal function are emphasized.
| Original language | English |
|---|---|
| Pages (from-to) | 364-372 |
| Number of pages | 9 |
| Journal | Hormone Research |
| Volume | 70 |
| Issue number | 6 |
| DOIs | |
| Publication status | Published - Dec 2008 |
Fingerprint
Keywords
- ALADIN
- Allgrove syndrome
- Glucocorticoid deficiency
- Nuclear pore complex
- Nucleoporin
ASJC Scopus subject areas
- Endocrinology
- Endocrinology, Diabetes and Metabolism
Cite this
Late-onset triple a syndrome : A risk of overlooked or delayed diagnosis and management. / Salmaggi, Andrea; Zirilli, Lucia; Pantaleoni, Chiara; De Joanna, Gabriella; Del Sorbo, Francesca; Koehler, Katrin; Krumbholz, Manuela; Huebner, Angela; Rochira, Vincenzo.
In: Hormone Research, Vol. 70, No. 6, 12.2008, p. 364-372.Research output: Contribution to journal › Article
}
TY - JOUR
T1 - Late-onset triple a syndrome
T2 - A risk of overlooked or delayed diagnosis and management
AU - Salmaggi, Andrea
AU - Zirilli, Lucia
AU - Pantaleoni, Chiara
AU - De Joanna, Gabriella
AU - Del Sorbo, Francesca
AU - Koehler, Katrin
AU - Krumbholz, Manuela
AU - Huebner, Angela
AU - Rochira, Vincenzo
PY - 2008/12
Y1 - 2008/12
N2 - Background/Aims: A 33-year-old man was referred for the first time to the Division of Neurology because of the presence and progression of neurological symptoms. Dysphagia, weakness, reduced tear production, and nasal speech were present. In order to point the attention of late-onset triple A syndrome we describe this case and review the literature. Methods: Hormonal and biochemical evaluation, Schirmer test, tilt test and genetic testing for AAAS gene mutations. Results: Late-onset triple A syndrome caused by a novel homozygous missense mutation in the AAAS gene (A167V in exon 6) was diagnosed at least 17 years after symptom onset. Conclusions: The association between typical signs and symptoms of triple A syndrome should suggest the diagnosis even if they manifest in adulthood. The diagnosis should be confirmed by Schirmer test, endocrine testing (both basal and dynamic), genetic analysis, and detailed gastroenterological and neurological evaluations. Awareness of the possible late onset of the disease and of diagnosis in adulthood is still poor among clinicians, the acquaintance with the disease is more common among pediatricians. The importance of an adequate multidisciplinary clinical approach, dynamic testing for early diagnosis of adrenal insufficiency and periodical reassessment of adrenal function are emphasized.
AB - Background/Aims: A 33-year-old man was referred for the first time to the Division of Neurology because of the presence and progression of neurological symptoms. Dysphagia, weakness, reduced tear production, and nasal speech were present. In order to point the attention of late-onset triple A syndrome we describe this case and review the literature. Methods: Hormonal and biochemical evaluation, Schirmer test, tilt test and genetic testing for AAAS gene mutations. Results: Late-onset triple A syndrome caused by a novel homozygous missense mutation in the AAAS gene (A167V in exon 6) was diagnosed at least 17 years after symptom onset. Conclusions: The association between typical signs and symptoms of triple A syndrome should suggest the diagnosis even if they manifest in adulthood. The diagnosis should be confirmed by Schirmer test, endocrine testing (both basal and dynamic), genetic analysis, and detailed gastroenterological and neurological evaluations. Awareness of the possible late onset of the disease and of diagnosis in adulthood is still poor among clinicians, the acquaintance with the disease is more common among pediatricians. The importance of an adequate multidisciplinary clinical approach, dynamic testing for early diagnosis of adrenal insufficiency and periodical reassessment of adrenal function are emphasized.
KW - ALADIN
KW - Allgrove syndrome
KW - Glucocorticoid deficiency
KW - Nuclear pore complex
KW - Nucleoporin
UR - http://www.scopus.com/inward/record.url?scp=54449091038&partnerID=8YFLogxK
UR - http://www.scopus.com/inward/citedby.url?scp=54449091038&partnerID=8YFLogxK
U2 - 10.1159/000161867
DO - 10.1159/000161867
M3 - Article
C2 - 18953174
AN - SCOPUS:54449091038
VL - 70
SP - 364
EP - 372
JO - Hormone Research
JF - Hormone Research
SN - 0301-0163
IS - 6
ER -