Niemann-Pick is inherited in an autosomal recessive modality. This means two copies of the abnormal gene must be present in order for the disease to develop.
Sphingomyelinase, is deficient in this disorder, leading to an accumulation of sphingomyelin. This build up of sphingomyelin is attributed to the physiological symptoms seen in Niemann-Pick.
There is an increased disease prevalence in the Eastern European Ashkenazi Jewish population.
On fundoscopic examination, a small red spot is seen in the center of the macula of the retina. It is caused by accumulation of sphingomyelin in the retina and the relative transparency of the macula. Cherry red macula can be seen in several different lipid storage diseases.
An accumulation of sphingomyelin in the liver and spleen causes enlargement of these organs at an early age.
Neurodegeneration involves progressive deterioration of the central nervous system due to accumulation of sphingomyelin.
Foam cells are phagocytes that have accumulated large amounts of oxidized low-density lipoproteins. Numerous small vacuoles filled with lipids are created causing the cytoplasm to appear foamy.
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