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Triple A (Allgrove) syndrome: an unusual association with syringomyelia

Overview of attention for article published in Italian Journal of Pediatrics, June 2013
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Title
Triple A (Allgrove) syndrome: an unusual association with syringomyelia
Published in
Italian Journal of Pediatrics, June 2013
DOI 10.1186/1824-7288-39-39
Pubmed ID
Authors

Carla Bizzarri, Danila Benevento, Cesare Terzi, Angela Huebner, Marco Cappa

Abstract

Triple A (Allgrove) syndrome was first described by Allgrove in 1978 in two pairs of siblings. Since then, about 100 cases have been reported, all of them displaying an autosomal recessive pattern of inheritance. Clinical picture is characterized by achalasia, alacrimia and ACTH-resistant adrenal failure. A progressive neurological syndrome including central, peripheral and autonomic nervous system impairment, and mild mental retardation is often associated. The triple A syndrome gene, designated AAAS, is localized on chromosome 12q13. It consists of 16 exons, encoding for a 546 aminoacid protein called ALADIN (Alacrimia-Achalasia-aDrenal Insufficiency Neurologic disorder).We report on a 13 year-old boy presenting with Addison's disease, dysphagia, muscle weakness, excessive fatigue and recent onset gait ataxia. The analysis of the AAAS gene revealed a homozygous missense mutation in exon 12. It was a T > G transversion at nucleotide position 1224, resulting in a change of leucine at amino acid position 381 into arginine (Leu381Arg or L381R). Brain appearance was found normal at magnetic resonance imaging (MRI) and functional spectroscopy analysis showed normal levels of the main metabolites. Spine MRI showed a cystic cavity within the spinal cord (syringomyelia), localized between the sixth cervical vertebra and the first thoracic vertebra. Cerebellar tonsils descended 7 mm caudal to foramen magnum, consistently with a mild type 1 Chiari malformation. Mild posterior inter-vertebral disk protrusions were evident between T9 and T10 and between L4 and L5.To our knowledge, this is the first report describing type 1 Chiari malformation and multiple spinal cord abnormalities in a patient with Allgrove syndrome.

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Mendeley readers

Mendeley readers

The data shown below were compiled from readership statistics for 39 Mendeley readers of this research output. Click here to see the associated Mendeley record.

Geographical breakdown

Country Count As %
Unknown 39 100%

Demographic breakdown

Readers by professional status Count As %
Researcher 7 18%
Student > Ph. D. Student 5 13%
Student > Bachelor 4 10%
Lecturer 4 10%
Student > Postgraduate 3 8%
Other 6 15%
Unknown 10 26%
Readers by discipline Count As %
Medicine and Dentistry 9 23%
Biochemistry, Genetics and Molecular Biology 4 10%
Neuroscience 4 10%
Nursing and Health Professions 3 8%
Agricultural and Biological Sciences 2 5%
Other 5 13%
Unknown 12 31%
Attention Score in Context

Attention Score in Context

This research output has an Altmetric Attention Score of 1. This is our high-level measure of the quality and quantity of online attention that it has received. This Attention Score, as well as the ranking and number of research outputs shown below, was calculated when the research output was last mentioned on 05 July 2013.
All research outputs
#19,944,994
of 25,374,647 outputs
Outputs from Italian Journal of Pediatrics
#697
of 1,059 outputs
Outputs of similar age
#152,292
of 209,141 outputs
Outputs of similar age from Italian Journal of Pediatrics
#12
of 18 outputs
Altmetric has tracked 25,374,647 research outputs across all sources so far. This one is in the 18th percentile – i.e., 18% of other outputs scored the same or lower than it.
So far Altmetric has tracked 1,059 research outputs from this source. They typically receive a little more attention than average, with a mean Attention Score of 6.7. This one is in the 30th percentile – i.e., 30% of its peers scored the same or lower than it.
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We're also able to compare this research output to 18 others from the same source and published within six weeks on either side of this one. This one is in the 27th percentile – i.e., 27% of its contemporaries scored the same or lower than it.