Niemann-Pick disease refers to a group of autosomally inherited genetic disorders characterized by abnormalities in lipid metabolism. Of the four known subtypes of Niemann-Pick disease, type A was the first to be discovered. Unfortunately, this type is also the most severe of all forms of the disease. Type A Niemann-Pick disease appears in infancy, and is characterized by abdominal swelling, hepatosplenomegaly, cherry red spot in the eye, feeding difficulties, failure to gain weight and thrive, and a loss of early motor skills which progressively worsens.
Confirmatory diagnosis of suspected cases of Niemann-Pick disease type A can be easily done by measuring the amount of acid sphingomyelinase enzyme in the blood.
Unfortunately, treatment options are limited. Supportive care is the mainstay of management of the condition. Since there is a progressive involvement of the nervous system, most affected children do not survive past 2-3 years of age. Although this is not a very common disease, Ashkenazi Jews show an incidence rate of 1 in 40,000.