Congenital factor Ⅶ deficiency, first described by Alexander et at. in 1951, is a rare
hereditary hemorrhagic disorder characterized by prolonged prothrombin time (PT),
normal bleeding time and normal activated partial thromboplastin time (APTT), which is
transmitted as autosomal recessive with variable penetrance.
We experienced first in Korea a case of congenital factor Ⅶ deficiency in a 1 year old
female baby who was admitted to Department of Pediatrics, SNU Hospital due to mild
tenderness & swelling of left knee joint and easy bruisabllity.
Since 6 months of age, she complained of frequent gum bleeding associated with teeth
eruption, epistaxis and easy bruisability. Twenty days prior to admission, she was
injured her left knee joint by accident, thereafter left knee joint swelling and contracture
developed.
On admission, she appeared well developed and nourished, but was slightly anomic.
The vital signs were stable. Multiple bruise on whole body and 3-4 ecchyueses on both
inguinal region and right buttock without active bleeding were noted.
The following laboratory findings were obtained: Hemoglobin 9.6 gm/dl, platelet
493,000/mm3, normal bleeding time(4 min), prolonged PT(27sec, 23%),
normal APTT(26 sec) and normal factor assay findings except reduced activity in factor
Ⅶ(16%).
Both her parents showed normal PT & lower normal activity of factor Ⅶ(55%).
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