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.
Petrini
P
P
Department of Paediatrics, Karolinska Hospital, Stockholm, Sweden.
Segnestam
K
K
Ekelund
H
H
Egberg
N
N
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