Compound heterozygosity of the protein S-gene as a cause of severe cerebral sinovenous thrombosis in a 7-year-old child.
The genotype-phenotype relationship of compound heterozygous protein S-deficiency in a 7-year-old girl with reduced protein S-levels and a severe cerebral sinovenous thrombosis is illustrated. In this patient we identified a novel deletion in the protein S-gene causing a compound heterozygous state and subsequently a symptomatic protein S-deficiency. In case of thrombosis analysis of protein S is recommended. Low levels of protein S should be further investigated by molecular diagnostics.
Hainmann
I
I
University Medical Center Freiburg, Department of Paediatrics and Adolescent Medicine, Freiburg, Germany. ina.hainmann@uniklinik-freiburg.de
Korinthenberg
R
R
Oldenburg
J
J
Pavlova
A
A
Mader
I
I
Zieger
B
B
D000925:Anticoagulants / Q000627:therapeutic use; D002544:Cerebral Infarction / Q000175:diagnosis / Q000188:drug therapy / Q000235:genetics; D002648:Child; D002872:Chromosome Deletion; D004252:DNA Mutational Analysis; D004829:Epilepsy, Generalized / Q000188:drug therapy / Q000209:etiology; D005260:Female; D005500:Follow-Up Studies; D006580:Genetic Carrier Screening; D005838:Genotype; D006801:Humans; D019586:Intracranial Hypertension / Q000175:diagnosis / Q000188:drug therapy / Q000235:genetics; D018810:Magnetic Resonance Angiography; D020125:Mutation, Missense / Q000235:genetics; D010641:Phenotype; D018455:Protein S Deficiency / Q000175:diagnosis / Q000188:drug therapy / Q000235:genetics*; D012851:Sinus Thrombosis, Intracranial / Q000175:diagnosis / Q000188:drug therapy / Q000235:genetics*; D013786:Thalamic Diseases / Q000175:diagnosis / Q000188:drug therapy / Q000235:genetics
D000925:Anticoagulants