Question 149

Question:

A researcher analyzes blood samples taken from patients at a dialysis clinic to screen for inborn errors of metabolism and finds one male patient with an increased ceramide trihexoside level. Of note, the patient also has a history of heart failure, a painful stocking-glove neuropathy as well as multiple blue-red spots on his thighs and abdomen. What is the most likely diagnosis?

Correct Answer: E.  Fabry’s disease

Fabry’s disease is a deficiency of a-galactosidase A which results in all of the symptoms mentioned. The blue-red spots are angiokeratomas.

Hurler’s syndrome is a mucopolysaccharidosis characterized by coarse facial features (“gargoyle facies”), corneal clouding and hepatosplenomegaly. A deficiency of a-L-iduronidase results in an accumulation of heparan and dermatan sulfate.

Von Gierke’s disease (type I glycogen storage disease) manifests with profound fasting hypoglycemia, hepatomegaly and an elevated blood lactate.

I-cell disease is a deficiency of N-acetylglucosaminyl-1-phosphotransferase which results in developmental delay, growth retardation, coarse facies with gingival hyperplasia and high levels of lysosomal enzymes in the blood.

Gaucher’s disease is a deficiency of B-glucocerebrosidase resulting in accumulation of glucocerebroside. This can present later in life with hepatosplenomegaly and bone marrow failure from infiltration of Gaucher cells.