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Open Access 01-12-2017 | Case report

Short stature: an ordinary sign for an unordinary diagnosis

Authors: Paolo Cavarzere, Valentina Bortolotti, Michela Capogna, Margherita Guarnieri, Francesca Lucca, Rossella Gaudino, Stefano Marzini, Claudia Banzato, Franco Antoniazzi

Published in: Italian Journal of Pediatrics | Issue 1/2017

Abstract

Background

Short stature (SS) is a relatively early sign of poor health. Only in 5% of cases we can explain it through the presence of endocrinological pathologies. Therefore, if SS is present since the first months of life, it is necessary to investigate all systemic disorders with secondary effects on growth.

Case presentation

We report the case of a 16-months-old male infant with severe SS apparently not associated with other clinical signs or symptoms. The patient arrived to our attention after he was hospitalized for an Echovirus enteritis, associated to moderate neutropenia (800/mm³) and hypertransaminasemia (AST 116 U/L, ALT 88 U/L) at the age of 13 months. SS was detected in that occasion. Since SS persisted even after the complete resolution of enteritis symptoms, he was taken care by our unit.

Conclusions

SS appeared in the first months of life and associated with moderate neutropenia and hypertransaminasemia led us to the diagnosis of Shwachmann-Diamond syndrome. We recommend paying further attention to this condition during the differential diagnosis of children with severe SS.

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Title: Short stature: an ordinary sign for an unordinary diagnosis
Authors: Paolo Cavarzere
Valentina Bortolotti
Michela Capogna
Margherita Guarnieri
Francesca Lucca
Rossella Gaudino
Stefano Marzini
Claudia Banzato
Franco Antoniazzi
Publication date: 01-12-2017
Publisher: BioMed Central
Published in: Italian Journal of Pediatrics / Issue 1/2017
Electronic ISSN: 1824-7288
DOI: https://doi.org/10.1186/s13052-017-0381-9

At a glance: The ONWARDS insulin icodec trials

Springer Medicine

Short stature: an ordinary sign for an unordinary diagnosis

Abstract

Background

Case presentation

Conclusions

At a glance: The ONWARDS insulin icodec trials

Springer Medicine

Abstract

Background

Case presentation

Conclusions

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