A 3-year-old female child with repeated admissions as bleeding tendency in a form of spontaneous ecchymosis and bleeding through the nose and urine. She had another daughter who died because of similar undiagnosed illness. The mother is a staff nurse and she is highly concerned about her child illness. Lab investigations usually show either PT and/or PTT prolongation with normal platelets, which usually normalized after empiric vitamin K administration. The father is a petrol engineer and never seen accompanying the family. Of the following, the MOST helpful investigation is

A 3-year-old female child with repeated admissions as bleeding tendency in a form of spontaneous ecchymosis and bleeding through the nose and urine. She had another daughter who died because of similar undiagnosed illness. The mother is a staff nurse and she is highly concerned about her child illness. Lab investigations usually show either PT and/or PTT prolongation with normal platelets, which usually normalized after empiric vitamin K administration. The father is a petrol engineer and never seen accompanying the family. Of the following, the MOST helpful investigation is

The blueberry muffin appearance in infants with TORCH infections most likely represents

On the second day of life, the patient in Questions and experiences bradycardia and hypotension with cyanosis and a metabolic acidosis Likely diagnoses include (may choose more than one)

Infants at risk for hyperinsulinemic hypoglycemia include all of the following EXCEPT

What is the most appropriate diagnosis for a 7-year-old boy with recurrent motor movements?