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Neonatal Gaucher disease presenting as persistent thrombocytopenia
Philip Roth1, Susan Sklower Brooks, Daniel Potaznik
1Division of Neonatology, Department of Pediatrics, Staten Island University Hospital, SUNY - Downstate Medical Center, Staten Island, NY 10305, USA.
Summary
Gaucher disease, a genetic disorder, can manifest differently based on mutation type. This study details a rare neonatal case of Gaucher disease with specific early-onset symptoms.
Area of Science:
- Genetics
- Biochemistry
- Pediatrics
Background:
- Gaucher disease results from mutations in the beta-glucocerebrosidase gene.
- Type 1 Gaucher disease typically presents later with milder symptoms, while Type 2 involves severe infantile neuronopathic symptoms.
Observation:
- A neonate presented with thrombocytopenia, splenomegaly, and cholestasis at birth.
- The infant was identified as homozygous for the D409H mutation.
Findings:
- This case highlights a severe, early-onset presentation of Gaucher disease in a neonate.
- Homozygosity for the D409H mutation was observed in this patient.
Implications:
- This finding expands the understanding of Gaucher disease genotype-phenotype correlations.
- Early identification of severe Gaucher disease is crucial for timely intervention and management in neonates.