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Updated: Jun 24, 2025

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Progressive Thrombocytopenia, Splenomegaly, and Abnormal Tone in an Infant With Growth Faltering

Gal Barak1,2, Gail Demmler-Harrison1,2, Linda Rossetti1,3

  • 1Texas Children's Hospital, Houston, Texas.

Pediatrics
|June 12, 2024
PubMed

Insights

A severe infant illness initially suspected to be cytomegalovirus (CMV) infection required extensive investigation. A multidisciplinary approach was crucial for accurate diagnosis beyond isolated CMV.

Area of Science:

  • Pediatrics
  • Infectious Diseases
  • Neonatology

Background:

  • Infants with failure to thrive present complex diagnostic challenges.
  • Cytomegalovirus (CMV) infection is a common congenital infection but can manifest atypically.
  • Early recognition of severe malnutrition is critical for infant outcomes.

Purpose of the Study:

  • To describe a case of an infant with severe failure to thrive and multisystemic symptoms.
  • To highlight the diagnostic process for complex pediatric presentations.
  • To emphasize the importance of a multidisciplinary approach in diagnosing rare conditions.

Main Methods:

  • Case report of a 4-month-old female infant.
  • Clinical examination, laboratory investigations (including CMV serology, viruria, viremia).
  • Advanced imaging (brain MRI) and comprehensive multidisciplinary team evaluation.

Main Results:

  • The infant presented with growth faltering, feeding difficulties, rash, abdominal distension, and developmental delays.
  • Initial workup revealed thrombocytopenia and positive CMV antibodies, with confirmed active CMV infection.
  • Brain MRI and clinical features were inconsistent with isolated CMV, necessitating further investigation.

Conclusions:

  • Atypical presentations of cytomegalovirus (CMV) infection can mimic other serious pediatric conditions.
  • Multidisciplinary evaluation is essential for accurate diagnosis in complex pediatric cases.
  • Prompt and thorough diagnostic workup is vital for optimizing infant health outcomes.

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