Niemann-Pick Disease type B (sphyngomyelinase deficiency). Chronic form without CNS involvement.
Incidence
Unknown.
Clinical Characteristics
In this condition there is less infiltration of the brain than in type A Niemman-Pick disease which is probably related to residual enzyme activity in the brain. Hepatosplenomegaly and pulmonary infiltration in infancy or early childhood occur. Failure to thrive. Neurological symptoms such as retinal degeneration, mental retardation and others are seen in childhood, adolescence or adulthood.
Precipitants
no
Provocation Tests
no
Diagnostic Procedures
EB-F, EB-W, DB-W. There are foam cells on bone marrow, spleen, liver, lymph nodes and brain. Also vacuolated lymphocytes in peripheral blood smear.