A couple brings in their 6-month-old child because they are concerned about the child's inability to sit without support. The physician interviews the parents and ascertains that they are both Ashkenazic Jews. The doctor should inform them that, because of their heritage, their child may have an increased risk of which of the following disorders?

A. Albinism and galactosemia
B. Cystic fibrosis and Lesch-Nyhan disease
C. Gaucher's disease and Tay-Sachs disease
D. Krabbe's disease and Niemann-Pick disease
E. Metachromatic leukodystrophy and phenylketonuria

Is it D. Krabbe's disease and Niemann-Pick disease ?

The correct answer is C. You should associate Ashkenazic (Eastern European) Jews with two diseases: Tay-Sachs disease and Type I Gaucher's disease. Both of these diseases are sphingolipidoses. Tay-Sachs disease is the more devastating of the two, and is characterized by progressive neurologic (including visual) deterioration beginning at about 6 months of age and leading to death by age 3. In contrast, Type I Gaucher's disease is compatible with a normal life span and causes hepatosplenomegaly with CNS involvement. (The infantile Type II and the juvenile Type III forms cause more serious disease but are not seen with increased incidence in Ashkenazic Jews.) None of the other conditions listed occur with greater frequency in Ashkenazic Jews. In this case, also note that many perfectly normal children cannot sit without support at 6 months of age, so the child may well be healthy.