Niemann-Pick

Symptoms:

• a family history of Niemann-Pick disease
• feeding problems
• loss of acquired motor skill (inability to roll over, sit or stand)
• evidence of blindness
• appearance of being malnourished or wasting
• motormental retardation

Signs and tests:

• hepatomegaly (enlarged liver)
• splenomegaly (enlarged spleen)
• blindness
• deafness
• cherry red spot in the macula (seen on eye examination)
• foam cells in bone marrow biopsy
• decreased enzyme (sphingomyelinase) in cultured skin fibroblasts or WBCs
• elevated cholesterol

Tests:

• slit-lamp eye exam
• bone marrow aspiration looking for foamy histiocytes that have a mulberry appearance
• liver biopsy (usually not necessary)
• skin biopsy (for fibroblast cultures)
• sphingomyelinase assays