Abstract

tion studies with cells f rom pat ients with different types of N P D may resolve the classification problem? 3 Despite the normal neurologic findings at present in the proband, the ret inal involvement raises concerns about longterm neurologic and intellectual prognosis. However, early presentat ion of organomegaly, macular abnormal i ties, and very low sphingomyel inase levels is not always associated wi th neurologic deter iorat ion in early childhood. These clinical and enzymat ic findings may define a dist inct var ian t of N P D , requiring consideration in prognostic and genetic counseling of families with apparen t NPD-B.

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