The parents of an 18-month-old girl are alarmed at the rapid deterioration in her motor skills and the appearance of an engorged belly. They note that when their daughter tries to follow the movement of an object she thrusts her head in the direction of movement as if she cannot move her eyes from side to side. Physical and laboratory examination reveals hepatosplenomegaly, skeletal lesions, dry scaly skin, and lipid-laden foam cells that have the appearance of wrinkled paper when viewed unde a microscope. What is the most likely diagnosis in
This infant?

Question

Quizplus · Accepted Answer

The symptoms described, including hepatosplenomegaly, skeletal lesions, and lipid-laden foam cells with a wrinkled paper appearance, are characteristic of Gaucher disease.  The hallmark of Gaucher disease is the presence of lipid-engorged cells of the monocyte/macrophage lineage with a characteristic appearance in a variety of tissues. These distinctive cells contain one or more nuclei and their cytoplasm contains a striated tubular pattern described as "wrinkled tissue paper." These cells are called Gaucher cells.

The Parents of an 18-Month-Old Girl Are Alarmed at the Rapid