Short stature: an ordinary sign for an unordinary diagnosis

• Published in: Italian journal of pediatrics Vol. 43; no. 1; p. 64
• Main Authors: Cavarzere, Paolo, Bortolotti, Valentina, Capogna, Michela, Guarnieri, Margherita, Lucca, Francesca, Gaudino, Rossella, Marzini, Stefano, Banzato, Claudia, Antoniazzi, Franco
• Format: Journal Article
• Language: English
• Published: England BioMed Central 28.07.2017; BMC
• Subjects: Anemia; Blood; Bone marrow; Case Report; Celiac disease; Diagnosis; Diagnosis, Differential; Diarrhea; Dwarfism - complications; Dwarfism - diagnosis; Dwarfism - genetics; Endocrinology; Feces; Growth retardation; Humans; Hypertransaminasemia; Infant; Infections; Liver diseases; Male; Monitoring, Physiologic - methods; Neutropenia; Patients; Rare Diseases; Risk Assessment; Severity of Illness Index; Short stature; Shwachmann-Diamond syndrome; Syndrome; Transaminases - blood; Viral infections; Shwachmann-Diamond syndrome; Short stature; Hypertransaminasemia; Growth retardation; Neutropenia
• ISSN: 1824-7288; 1720-8424; 1824-7288
• DOI: 10.1186/s13052-017-0381-9

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. 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/mm ) 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. 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.