Niemann-Pick disease (Ludwig Pick)
A hereditary, congenital syndrome with onset in early infancy. A disturbance of sphingolipid metabolism characterised by enlargement of liver and spleen, anaemia, cherry red spot of the macula with progressive blindness, lymphadenopathy, and progressive mental and physical deterioration. Death usually occurs before the third year.
Typical cell, having a foamy appearance and filled with a lipoid believed to be sphingomyelin, can be found in bone marrow, spleen, or lymph nodes and aids in establishing the diagnosis.
Occurs in five clinically distinguishable phenotypes. Type A(Niemann): severe infantile form; type B (Pick): visceral or chronic from; type C: the subacute or juvenile type; type D: Nova Scotia (also called Crocker-Farber syndrome), and type e) adult non-neuronopathic. The severe infantile form is the most common, with a rapidly progressing course leading to death within two years of age. Occurs mainly in Jews. The disorder is heterogeneous but all forms are autosomal recessive.
Niemann’s description was of a Jewish infant with extensive damages to the central nervous system that died at the age of two years after developing lymphadenopathy and hepatosplenomegaly. He commented that the histological features resembled those of Gaucher's disease, although the rapidly progressive course was not in keeping with the diagnosis.
- A. Niemann:
Ein unbekanntes Krankheitsbild.
Jahrbuch für Kinderheilkunde, Berlin, N F, 1914. Volume 79: 1-10.
- L. Pick:
Der Morbus Gaucher und die ihm ähnlichen Krankheiten (die lipoidzellige Splenohepatomegalie Typus Niemann und die diabetische Lipoidzellenhypoplasie der Milz).
Ergebnisse der Inneren Medizin und Kinderheilkunde, Berlin, 1926, 29: 519-627.
- A. C. Crocker, S. Farber:
Niemann-Pick disease: A review of eighteen patients.
Medicine, Baltimore, 1958, 37: 1-95.