2 Yr old previously healthy child presents with ankle joint swelling since 2 days. No h/o trauma or fever. He ha also h/o swelling in muscle after im injections .his mother says he had oozing after circumcision
His uncle had similar issue
He is not on drugs
He has no loss of wt neck swelling recurrent fever or pallor
Occasional skin bruises also ✅ noted
What could be the dx?
Is it a primary hemostatic problem or secondary hemostatic problem?
Is it a sick child?
Is there serious infection or liver disease?
● A newborn with bleeding from the umbilical stump should be evaluated for coagulation protein defects, including factor XIII deficiency . Intracranial hemorrhage in an infant without other risk factors should also prompt consideration of this diagnosis. ()
A male infant who is starting to walk and presents with a painful swollen joint after a fall is presumed to have hemophilia until proven otherwise. Similarly, an unusually prominent forehead hematoma (“goose-egg”) in a male infant or young boy is a common presentation of hemophilia , as is excess bleeding after circumcision. (
“Clinical manifestations and An otherwise healthy child who presents with petechiae and/or mucocutaneous purpura in the wake of a viral infection most likely has acute postinfectious immune thrombocytopenia [5-8]. (.)
An adolescent girl who presents with excessive menstrual bleeding, recurrent nosebleeds, and pallor may have von Willebrand disease (VWD), the most common inherited bleeding disorder .
What is the importance ogFamily history ?
The family history is helpful in supporting a possible diagnosis of an inherited disorder of coagulation. The presence of bleeding manifestations only in male siblings and maternal uncles is suggestive of X-linked recessive inheritance, such as that seen in hemophilia A or B. However, a negative family history does not exclude an inherited coagulation disorder, as up to one-third of patients with hemophilia have a negative family history
Vwd h/o autosomal dominant