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Short stature: an ordinary sign for an unordinary diagnosis

Paolo Cavarzere1, Valentina Bortolotti2, Michela Capogna2

  • 1Pediatric Clinic, Department of Pediatrics, University Hospital of Verona, Piazzale Stefani 1, 37126, Verona, Italy. paolocavarzere@yahoo.it.

Italian Journal of Pediatrics
|July 30, 2017
PubMed

Insights

Short stature (SS) in infants, when not caused by endocrine issues, may signal underlying systemic disorders. Early detection of SS with neutropenia and hypertransaminasemia can indicate Shwachman-Diamond syndrome.

Area of Science:

  • Pediatric endocrinology
  • Genetics
  • Hematology

Background:

  • Short stature (SS) is an early indicator of potential health issues, with only 5% of cases linked to endocrine disorders.
  • Investigating systemic disorders is crucial for SS presenting in early infancy due to secondary growth effects.

Observation:

  • A 16-month-old male infant presented with severe SS, initially detected at 13 months during hospitalization for Echovirus enteritis.
  • The infant also exhibited moderate neutropenia and elevated liver enzymes (AST, ALT).
  • SS persisted despite the resolution of enteritis symptoms, prompting further medical evaluation.

Findings:

  • The combination of early-onset SS, neutropenia, and hypertransaminasemia led to the diagnosis of Shwachmann-Diamond syndrome.
  • This rare genetic disorder affects multiple organ systems, impacting growth and immune function.

Implications:

  • Shwachmann-Diamond syndrome should be considered in the differential diagnosis of infants with unexplained severe SS.
  • Early identification and management are essential for improving outcomes in children with this condition.
Abstract

Keywords:
Growth retardationHypertransaminasemiaNeutropeniaShort statureShwachmann-Diamond syndrome

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