Klin Padiatr 2010; 222(3): 194-195
DOI: 10.1055/s-0030-1249066
Pictorial Essay

© Georg Thieme Verlag KG Stuttgart · New York

Compound Heterozygosity of the Protein S-Gene as a Cause of Severe Cerebral Sinovenous Thrombosis in a 7-Year-Old Child

Compound-heterozygote Mutationen des Protein-S-Gens als Ursache für eine Sinusvenenthrombose bei einem 7-jährigen MädchenI. Hainmann1 , R. Korinthenberg2 , J. Oldenburg3 , A. Pavlova3 , I. Mader4 , B. Zieger1
  • 1University Medical Center Freiburg, Department of Paediatrics and Adolescent Medicine, Freiburg, Germany
  • 2University Medical Center Freiburg, Department of Paediatrics and Adolescent Medicine, Clinic II: Neuropediatrics and Muscle Diseases, Freiburg, Germany
  • 3University Clinic Bonn, Instritute of Experimental Haematology and Transfusion Medicine, Bonn, Germany
  • 4University Medical Center Freiburg, Department of Neuroradiology, Freiburg, Germany
Further Information

Publication History

Publication Date:
31 May 2010 (online)

Abstract

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.

Zusammenfassung

Dieser Artikel charakterisiert das Verhältnis von Genotyp zu Phänotyp bei Compound-heterozygotem Protein-S-Mangel bei einem Mädchen mit schwerer Sinusvenenthrombose und Protein-S-Mangel. Wir wiesen eine bisher unbekannte Deletion im Protein-S-Gen nach, die zu einer Compound-Heterozygotie und somit zu einem symptomatischen Protein-S-Mangel führte. Im Falle einer Thrombose wird die Bestimmung von Protein S empfohlen; wiederholt niedrige Werte für Protein S können molekulargenetisch abgeklärt werden.

References

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Correspondence

Dr. Ina Hainmann

University Medical Center Freiburg

Department of Paediatrics and Adolescent Medicine

Mathildenstraße 1

79106 Freiburg

Germany

Phone: +49/761/270 4300

Fax: +49/761/270 4616

Email: ina.hainmann@uniklinik-freiburg.de