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Vacuolated lymphocytes signifying a metabolic disorder in an infant with developmental delay

Rasha Salama1, Jiehao Zhou1

  • 1Department of Pathology and Laboratory Medicine Indiana University Indianapolis IN 46202.

Clinical Case Reports
|January 20, 2016
PubMed

Insights

Vacuolated lymphocytes in children may indicate metabolic disorders. Early blood film review is crucial for diagnosing conditions like GM1 gangliosidosis, which presents with developmental delay.

Area of Science:

  • Biochemistry
  • Hematology
  • Pediatrics

Background:

  • Metabolic disorders can lead to the accumulation of byproducts.
  • These byproducts may appear as cytoplasmic vacuoles in lymphocytes.
  • Vacuolated lymphocytes are a potential indicator of underlying metabolic dysfunction.

Purpose of the Study:

  • To report a case of GM1 gangliosidosis presenting with specific hematological findings.
  • To highlight the significance of peripheral blood vacuolated lymphocytes in diagnosing metabolic disorders in infants.
  • To emphasize the utility of blood film review in pediatric metabolic disease diagnosis.

Main Methods:

  • Case report of an infant diagnosed with GM1 gangliosidosis.
  • Clinical presentation included developmental delay and peripheral blood vacuolated lymphocytes.
  • Peripheral blood smear analysis was performed.

Main Results:

  • The infant was diagnosed with GM1 gangliosidosis.
  • Initial symptoms included developmental delay.
  • Peripheral blood examination revealed vacuolated lymphocytes.

Conclusions:

  • GM1 gangliosidosis is a lysosomal storage disorder.
  • Vacuolated lymphocytes can be an early sign of metabolic disorders in children.
  • Blood film review is a valuable diagnostic tool for suspected metabolic conditions in pediatric patients.

Keywords:
Metabolic disorderperipheral blood smearvacuolated lymphocyte

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