Abstract
Mutations in the beta-glucocerebrosidase gene cause Gaucher disease with the type 1 variant generally presenting later in life with mild disease and type 2 in infancy with severe neuronopathic symptoms. We describe a neonate homozygous for the D409 H mutation with thrombocytopenia, splenomegaly and cholestasis at birth as the major features.
MeSH terms
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Adult
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Cesarean Section
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Diagnosis, Differential
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Drug Therapy, Combination
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Female
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Follow-Up Studies
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Gaucher Disease / diagnosis*
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Gaucher Disease / drug therapy*
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Gestational Age
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Humans
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Infant, Newborn
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Male
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Pregnancy
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Risk Assessment
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Severity of Illness Index
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Thrombocytopenia / diagnosis*
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Treatment Outcome
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Ursodeoxycholic Acid / therapeutic use
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Vitamins / therapeutic use
Substances
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Vitamins
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Ursodeoxycholic Acid