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Cherry red spots on macula
18%
64/349
Histiocytes with a wrinkled tissue paper appearance
14%
49/349
Gargoyle-like facies
5%
18/349
Corneal clouding
10%
34/349
Angiokeratomas
50%
174/349
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The patient in the question stem has Fabry's disease, an inherited lysosomal storage disease. Fabry's disease presents with angiokeratomas (small purple blemishes on skin). Fabry's disease is an X-linked recessive inherited deficiency of alpha-galactosidase A; females may also show symptoms secondary to X chromosomal inactivation. Deficiency of alpha-galactosidase A results in the accumulation of ceramide trihexose in the patient's tissues, causing multiple systemic effects. Presenting symptoms include angiokeratomas, peripheral neuropathy or acroparesthesia, hypohidrosis, renal failure and cardiovascular abnormalities. Treatment of Fabry's disease is with enzyme replacement. Illustration A shows an example of an angiokeratoma. Incorrect Answers: Answer 1: "Cherry red spots" on the macula are observed in Tay-Sachs (excess gangliosides) and Niemann-Pick diseases (excess sphingomyelin). Answer 2: Histiocytes with a wrinkled tissue paper appearance are seen in Gaucher's disease (excess glucosylceramide). Answer 3: Gargoyle-like facies are seen in Hurler's syndrome (excess glycosaminoglycans, formerly known as mucopolysaccharides). Answer 4: Corneal clouding is also seen in Hurler's syndrome.
4.3
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