Staphylococcal endocarditis as the first manifestation of heritable protein S deficiency in childhood.
A 12-year-old Japanese girl developed infective endocarditis and central nervous system disease. The previously healthy girl showed altered consciousness and abnormal behaviors along with the classical signs of septic emboli. Staphylococcus aureus was isolated from peripheral blood, but not, the pleocytotic cerebrospinal fluid. Diagnostic imaging studies revealed a vegetative structure in the morphologically normal heart, and multiple thromboembolisms in the brain and spleen. Low plasma activity of protein S (12%) and thrombophilic family history allowed the genetic study, demonstrating that she carried a heterozygous mutation of PROS1 (exon 13; 1689C > T, p.R474C). Surgical intervention of the thrombotic fibrous organization and subsequent anticoagulant therapy successfully managed the disease. There are no reports of infective endocarditis in childhood occurring as the first presentation of heritable thrombophilia. Protein S deficiency might be a risk factor for the development or exacerbation of infective endocarditis in children having no pre-existing heart disease.
Department of Pediatrics, Graduate School of Medical Sciences, Kyushu University, Fukuoka, Japan. Electronic address: hoshina@pediatr.med.kyushu-u.ac.jp.
Takayuki
T
Hoshina
Department of Pediatrics, Graduate School of Medical Sciences, Kyushu University, Fukuoka, Japan.
Yasutaka
Y
Nakashima
Department of Pediatrics, Graduate School of Medical Sciences, Kyushu University, Fukuoka, Japan.
Daisuke
D
Sato
Department of Pediatrics, Graduate School of Medical Sciences, Kyushu University, Fukuoka, Japan.
Etsuro
E
Nanishi
Department of Pediatrics, Graduate School of Medical Sciences, Kyushu University, Fukuoka, Japan.
Hisanori
H
Nishio
Department of Pediatrics, Graduate School of Medical Sciences, Kyushu University, Fukuoka, Japan.
Hazumu
H
Nagata
Department of Pediatrics, Graduate School of Medical Sciences, Kyushu University, Fukuoka, Japan.
Kenichiro
K
Yamamura
Department of Pediatrics, Graduate School of Medical Sciences, Kyushu University, Fukuoka, Japan.
Takehiko
T
Doi
Department of Cardiovascular Surgery, Graduate School of Medical Sciences, Kyushu University, Fukuoka, Japan.
Yuichi
Y
Shiokawa
Department of Clinical Chemistry and Laboratory Medicine, Kyushu University Hospital, Fukuoka, Japan.
Yui
Y
Koga
Department of Clinical Chemistry and Laboratory Medicine, Kyushu University Hospital, Fukuoka, Japan.
Dongchon
D
Kang
Department of Pediatrics, Graduate School of Medical Sciences, Kyushu University, Fukuoka, Japan.
Shouichi
S
Ohga
Department of Pediatrics, Graduate School of Medical Sciences, Kyushu University, Fukuoka, Japan.
Toshiro
T
Hara
D002648:Child; D004697:Endocarditis, Bacterial / Q000097:blood / Q000382:microbiology* / Q000473:pathology; D005260:Female; D006352:Heart Ventricles / Q000473:pathology; D006801:Humans; D010375:Pedigree; D018455:Protein S Deficiency / Q000097:blood / Q000382:microbiology* / Q000473:pathology; D013203:Staphylococcal Infections / Q000097:blood / Q000175:diagnosis* / Q000473:pathology; D013211:Staphylococcus aureus / Q000302:isolation & purification; D013923:Thromboembolism / Q000382:microbiology
Infective endocarditis; Protein S deficiency; Staphylococcus aureus; Thromboembolism; Vegetation