Late Vitamin K deficiency |
Previously well 3-month-old male who presented with jaundice, new seizure activity and intracranial hemorrhage. |
Initial: PT > 100 s, aPTT 184.5 s Follow-up: PT & aPTT improved with plasma transfusion. No factor activities obtained. |
The baby was ultimately diagnosed with cholestatic liver disease, which resulted in vitamin K, A and D deficiency, as well as failure to thrive. |
Hemophilia A |
Previously well 5-month-old male who presented with enlarging hip bruise and prior history of cephalohematoma. |
Initial: PT 13.3 s, aPTT 116.9 s Follow-up: factor VIII <1%, factor IX 66%, factor XII 39% |
Repeat testing demonstrated persistence of factor VIII activity reduction. Hematology consult obtained due to isolated laboratory abnormality. |
Osteogenesis Imperfecta |
6 month old with previously diagnosed Osteogenesis Imperfecta (COL1A1 mutation) presented with bilateral frontal subdural hemorrhages, acute and subacute, without skull fracture after a witnessed fall. |
Ophthalmology evaluation for retinal hemorrhages: negative. Skeletal survey: negative. Hematologic laboratory evaluation: normal. |
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