[Bernard-Soulier syndrome. An important differential diagnosis in chronic thrombocytopenia with bleeding complications].
Hereditary types of thrombocytopenia are often clinically misdiagnosed as chronic autoimmune thrombocytopenia. The Bernard-Soulier syndrome is a recessively inherited thrombocytopenia and -pathy associated with giant platelets. Bleeding time is usually prolonged, hemorrhage can be severe. In a Turkish thrombocytopenic boy autoimmune thrombocytopenia was diagnosed at the age of 11 months because the platelet count raised from 40.000/microliter to 100.000/microliters under treatment with steroids. The correct diagnosis of Bernard-Souiler syndrome was made at the age of 2 1/2 years. His also affected 13 year old sister had been treated for chronic autoimmune thrombocytopenia for years and suffered from severe hypermenorrhoea. Family history revealed consanguinity of the parents. Diagnosis of Bernard-Soulier syndrome was made by crossimmunoelectrophoresis and immunofluorescence showing absence of the glycoprotein complex Ib/IX.
Greinacher
A
A
Institut für Jlinische Immunologie und Transfusionsmedizin, Justus-Liebig-Universität, Giessen.
Zellner
A
A
Brangenberg
R
R
Kiefel
V
V
Mueller-Eckhardt
C
C
D000293:Adolescent; D001606:Bernard-Soulier Syndrome / Q000097:blood / Q000175:diagnosis* / Q000235:genetics; D001792:Blood Platelets / Q000473:pathology; D002675:Child, Preschool; D003937:Diagnosis, Differential; D005260:Female; D006452:Hemoglobinometry; D006474:Hemorrhagic Disorders / Q000097:blood / Q000175:diagnosis* / Q000235:genetics; D006801:Humans; D007123:Immunoelectrophoresis, Two-Dimensional; D008297:Male; D008854:Microscopy, Electron; D010974:Platelet Aggregation / Q000502:physiology; D010976:Platelet Count; D010980:Platelet Membrane Glycoproteins / Q000235:genetics; D013921:Thrombocytopenia / Q000097:blood / Q000175:diagnosis* / Q000235:genetics
D010980:Platelet Membrane Glycoproteins
Das Bernard-Soulier-Syndrom. Eine wichtige Differentialdiagnose bei chronischer Thrombozytopenie mit Blutungskomplikationen.