| Two siblings with triple A syndrome and novel mutation presenting as hereditary polyneuropathy. | |
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MedLine Citation:
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PMID: 20931227 Owner: NLM Status: In-Data-Review |
Abstract/OtherAbstract:
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The clinical and molecular data on triple A syndrome in two siblings (girl 3.5 years and boy 5.5 years at presentation) with early onset of neurological dysfunction are described. Both patients showed delayed developmental milestones and neurological dysfunctions (motor and sensory demyelinating neuropathy, marked hyperreflexia, calves hypothrophy, pes cavus, gait disturbance) in early childhood, when erroneously diagnosed with hereditary polyneuropathy, most likely Charcot-Marie-Tooth disease. After a severe adrenal crisis in the younger sister at the age of 3 years, the older brother aged 5.5 years was also evaluated and latent adrenal insufficiency was discovered. As both of the siblings had alacrima, hyperkeratosis of palms, cutis anserina, and nasal speech, diagnosis of triple A syndrome was considered. Sequencing of the AAAS gene detected a compound heterozygous mutation consisting of a novel mutation p.Ser296Tyr (c.887C>A) in exon 9 and a previously described p.Ser263Pro (c.787T>C) missense mutation in exon 8 in both siblings. In conclusion, triple A syndrome should be considered in patients presenting with early neurological dysfunction and developmental delay. Alacrima as the earliest and most consistent clinical sign should be investigated by Schirmer test. Patients should be regularly tested for adrenal dysfunction to prevent life-threatening adrenal crises. |
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Authors:
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Miroslav Dumić; Nina Barišić; Nataša Rojnić-Putarek; Vesna Kušec; Andrija Stanimirović; Katrin Koehler; Angela Huebner |
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Publication Detail:
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Type: Journal Article Date: 2010-10-08 |
Journal Detail:
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Title: European journal of pediatrics Volume: 170 ISSN: 1432-1076 ISO Abbreviation: Eur. J. Pediatr. Publication Date: 2011 Mar |
Date Detail:
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Created Date: 2011-03-02 Completed Date: - 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: 393-6 Citation Subset: IM |
Affiliation:
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Division of Endocrinology, Department of Pediatrics, University Hospital Zagreb, Kišpatićeva 12, 10 000, Zagreb, Croatia, drdumic@mef.hr. |
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