Homozygous protein C deficiency in two siblings.
Homozygous protein C (PC) deficiency is reported in two siblings (girl and boy) who received their proper diagnoses at the ages of 7 4/12 and 1 3/12 years respectively. The girl had perinatal asphyxia without bleeding. At 1 year of age she developed purpura fulminans. Treatment with heparin and plasma was successful. At 7 4/12 years she developed tender, bluish nonnecrotic skin changes after an orthopedic operation. The PC level was 0.08 U/ml. The boy had had a large intraventricular hemorrhage neonatally and developed severe brain damage. At 1 3/12 years he manifested the same skin changes as his sister and was treated similarly. The PC level was 0.05 U/ml. Both children now receive warfarin continuously and are essentially free of symptoms. The cases represent homozygous phenotypes in a family with a recessive trait of PC deficiency without thrombotic disease. The cases also show that severe PC deficiency may be compatible with life beyond infancy without any specific therapy.
Department of Paediatrics, Karolinska Hospital, Stockholm, Sweden.
P
P
Petrini
K
K
Segnestam
H
H
Ekelund
N
N
Egberg
D001803:Blood Transfusion; D005260:Female; D006474:Hemorrhagic Disorders / Q000150:complications / Q000188:drug therapy / Q000235:genetics*; D006801:Humans; D007231:Infant, Newborn; D008607:Intellectual Disability / Q000150:complications; D008297:Male; D010375:Pedigree; D010949:Plasma; D011486:Protein C / Q000235:genetics; D020151:Protein C Deficiency; D014859:Warfarin / Q000627:therapeutic use
D011486:Protein C; D014859:Warfarin