Can you diagnose this condition?
A 10 day-old male baby was brought to the emergency room because he was irritable, crying constantly, and had a seizure an hour ago. He did not have any fever. Last night blood was noted with stool in his diaper. The birth was an uncomplicated vaginal delivery at home. He was exclusively breast fed since he was born. When you enquired about her medications during pregnancy, mother reports that she took acetaminophen 500 mg twice daily for back pain most days of her pregnancy with this child. She reports that they are part of an online group called ‘all things natural’ and would like to keep ‘all things natural for the sake of his immunity development’. Following their creed, they did not give any medications or vaccines to their baby. There is no history of fall or trauma.
His vital signs are normal for his age. The infant was irritable. Otherwise, physical examination is remarkable for large ecchymoses on his back and decreased reflexes in all four extremities. A non-contrast CT scan of his head revealed an intracranial hemorrhage in the right frontal lobe.
Coagulation studies are as follows:
| Test | Reference Range | |
| Partial thromboplastin time (aPTT) (activated) | 27 | 25-40 seconds |
| Prothrombin time (PT) | 185 seconds | 11-15 seconds |
| International normalized ratio (INR) | 24 | <1 |
| D-Dimer | 187 | ≤250 ng/mL |
| Platelet count | 240,000 | 150,000 – 400,000/mm³ |
| Fibrinogen | 240 | 125 – 300 mg/dL |
| Alanine aminotransferase (ALT) | 32 | 10-140 U/L |
| Aspartate aminotransferase (AST) | 27 | 12 – 38 U/L |
| Factors II,VII, IX,X | Decreased | Normal |
| Factor V | Normal | Normal |
What is the most likely diagnosis in this patient
A.Disseminated intravascular coagulation
B.Child abuse
C.Hepatic failure
D.Vitamin K deficiency
E.von Willebrand disease
Correct Answer is D. A 10-day old baby, irritability, seizures, blood in the stool, delivery at home, exclusively breast fed, ‘all natural diet plan’, large ecchymoses on the back, intracranial hemorrhage on CT scan head, elevated prothrombin time, relatively normal aPTT, high INR, normal D-Dimer, normal platelet counts, normal fibrinogen, decreased clotting factors 2,7,9 and 10 indicate Vitamin K deficiency.
Vitamin K deficiency bleeding, formerly known as hemorrhagic disease of the newborn, is a neonatal bleeding coagulopathy resulting from vitamin K deficiency. A parents’ simple decision not to give vitamin K prophylaxis led to devastating consequences for this newborn baby. It illustrates how medical misinformation spreading like wildfire on the internet can wreak havoc in the lives of people. Vitamin K deficiency bleeding (VKDB) is classified as early, classical or late onset.
Definitions
- Early onset disease – onset within first 24 hours
- Classic disease – onset between day 2 – 14 days
- Late onset disease – onset between 15 days to 6 months
Vitamin K deficiency can present as nasal bleeding, gastrointestinal hemorrhage, postsurgical hemorrhage and intracranial hemorrhage.
Incorrect Answers
A.In disseminated intravascular coagulation both the prothrombin and aPTT are prolonged. Platelet count is typically low. Markers of fibrin degradation such as D-dimer are high. Fibrinogen is low.
B.Child abuse should be in the differential diagnosis for any baby with intracranial hemorrhage. However, the patient’s clinical history and coagulation studies are consistent with vitamin k deficiency bleeding disorder.
C.In hepatic failure, AST and ALT would be high. Factor V would be low.
E.von Willebrand disease would not elevate prothrombin time; aPTT is most commonly normal.