Neonatal Gaucher disease presenting as persistent thrombocytopenia.
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.
Roth
Philip
P
Division of Neonatology, Department of Pediatrics, Staten Island University Hospital, SUNY - Downstate Medical Center, Staten Island, NY 10305, USA.
Sklower Brooks
Susan
S
Potaznik
Daniel
D
Cooma
Ruby
R
Sahdev
Shashi
S
D000328:Adult; D002585:Cesarean Section; D003937:Diagnosis, Differential; D004359:Drug Therapy, Combination; D005260:Female; D005500:Follow-Up Studies; D005776:Gaucher Disease / Q000175:diagnosis* / Q000188:drug therapy*; D005865:Gestational Age; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D011247:Pregnancy; D018570:Risk Assessment; D012720:Severity of Illness Index; D013921:Thrombocytopenia / Q000175:diagnosis*; D016896:Treatment Outcome; D014580:Ursodeoxycholic Acid / Q000627:therapeutic use; D014815:Vitamins / Q000627:therapeutic use
D014815:Vitamins; D014580:Ursodeoxycholic Acid