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An In Vitro Model for the Study of Cellular Pathophysiology in Globoid Cell Leukodystrophy
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Perinatal lethal Gaucher disease.

Nishad Plakkal1, Amuchou Singh Soraisham, Junya Jirapradittha

  • 1Department of Pediatrics, Division of Neonatology, Alberta Children's Hospital, University of Calgary, Calgary, Alberta, Canada.

Indian Journal of Pediatrics
|October 7, 2010
PubMed
Summary
This summary is machine-generated.

Perinatal Lethal Gaucher Disease (PLGD) is a rare, severe infantile condition. This case highlights the rapid, fatal progression of PLGD, emphasizing the need for early genetic carrier screening in affected families.

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Area of Science:

  • Genetics
  • Pediatrics
  • Pathology

Background:

  • Perinatal Lethal Gaucher Disease (PLGD) is a rare, severe subtype of Gaucher disease, often classified under type 2.
  • It presents significant diagnostic and management challenges due to its rarity and severity.

Observation:

  • A neonate presented with severe hepatosplenomegaly, ichthyosis, generalized skin edema, and neonatal encephalopathy.
  • The infant experienced rapid deterioration and expired at 6 hours of age.

Findings:

  • Autopsy confirmed massive hepatosplenomegaly, ichthyosis with a collodion-like appearance, and widespread Gaucher cell infiltration in multiple organs.
  • Genetic analysis revealed both parents were carriers of Gaucher disease mutations.

Implications:

  • This case underscores the critical, often fatal, presentation of PLGD in neonates.
  • Highlights the importance of genetic counseling and carrier screening for families with a history of Gaucher disease or related symptoms.