Case records of the Massachusetts General Hospital. Weekly clinicopathological exercises. Case 28-2004. Newborn twins with thrombocytopenia, coagulation defects, and hepatosplenomegaly.
Lipton
Jeffrey M
JM
Department of Pediatrics, Albert Einstein College of Medicine, Bronx, NY, USA.
Westra
Sjirk
S
Haverty
Carrie E
CE
Roberts
Drucilla
D
Harris
Nancy Lee
NL
D001774:Blood Chemical Analysis; D001778:Blood Coagulation Disorders / Q000209:etiology; D001853:Bone Marrow / Q000473:pathology*; D016026:Bone Marrow Transplantation; D003937:Diagnosis, Differential; D004200:Diseases in Twins / Q000175:diagnosis* / Q000235:genetics; D017809:Fatal Outcome; D005820:Genetic Testing; D006403:Hematologic Tests; D006529:Hepatomegaly / Q000000981:diagnostic imaging; D015616:Histiocytosis, Non-Langerhans-Cell / Q000175:diagnosis* / Q000235:genetics / Q000628:therapy; D006801:Humans; D007231:Infant, Newborn; D007694:Killer Cells, Natural / Q000502:physiology; D007970:Leukopenia; D008099:Liver / Q000000981:diagnostic imaging / Q000473:pathology*; D008297:Male; D008562:Membrane Glycoproteins / Q000378:metabolism; D020125:Mutation, Missense; D054353:Perforin; D011110:Polymorphism, Genetic; D052899:Pore Forming Cytotoxic Proteins; D013163:Splenomegaly / Q000000981:diagnostic imaging; D013921:Thrombocytopenia / Q000209:etiology; D014430:Twins, Monozygotic; D014463:Ultrasonography; D014470:Umbilical Cord / Q000473:pathology*
D008562:Membrane Glycoproteins; D052899:Pore Forming Cytotoxic Proteins; D054353:Perforin