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Case Reports
. 2017 Jul 28;43(1):64.
doi: 10.1186/s13052-017-0381-9.

Short stature: an ordinary sign for an unordinary diagnosis

Paolo Cavarzere  1 , Valentina Bortolotti  2 , Michela Capogna  2 , Margherita Guarnieri  2 , Francesca Lucca  2 , Rossella Gaudino  2 , Stefano Marzini  3 , Claudia Banzato  2 , Franco Antoniazzi  2   4
Affiliations
Case Reports

Short stature: an ordinary sign for an unordinary diagnosis

Paolo Cavarzere et al. Ital J Pediatr. .

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.

Keywords: Growth retardation; Hypertransaminasemia; Neutropenia; Short stature; Shwachmann-Diamond syndrome.

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Conflict of interest statement

Ethics approval and consent to participate

The study was conducted in compliance with the terms of the Helsinki II Declaration and written informed consent for the enrolment and for the publication of individual clinical details was obtained from parents. In our country, namely Italy, this type of clinical study does not require Institutional Review Board/Institutional Ethics Committee approval to publish the results.

Consent for publication

The authors have obtained consent to publish from the parent of the children.

Competing interests

The authors declare that there are no competing interests that could be perceived as prejudicing the impartiality of the affirmation reported.

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Springer Nature remains neutral with regard to jurisdictional claims in published maps and institutional affiliations.

Figures

Fig. 1
Fig. 1
in figure the growth chart of our patients is represented (Who, 2006)
Fig. 2
Fig. 2
in figure the spine and pelvis X-ray in laterocervical a and in anteroposterior b projections is represented
See this image and copyright information in PMC

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