Nokea
A female infant is diagnosed with hemophagocytic lymphohistiocytosis (HLH) not associated with an Epstein-Barr virus (EBV) infection. In taking the family history, you learn that another female infant died of HLH 2 years ago. Also, a newborn female child died of an unknown disease 4 years prior and was said have been bleeding profusely, jaundiced, and had a distended abdomen. When counseling the family about the genetics of HLH, how will you explain it?
Correct Answer: B
Rationale: The correct answer is B: It is an autosomal recessive syndrome. HLH is typically inherited in an autosomal recessive pattern, meaning both parents must pass on a copy of the mutated gene for the child to develop the condition. In this case, the family history suggests a pattern of multiple affected female infants, which is more indicative of an autosomal recessive inheritance. Choice A (X-linked syndrome) is incorrect because the pattern of inheritance in this family does not align with X-linked inheritance. Choice C (dominant inheritance syndrome) is incorrect because a dominant inheritance pattern would not typically result in multiple affected offspring. Choice D (autosomal recessive syndrome with incomplete penetrance) is incorrect because incomplete penetrance would not explain the consistent occurrence of HLH in this family.