Summary
A diagnosis of Niemann-Pick disease type A was made in a 6-month-old boy on the grounds of progressive psychomotor retardation, hepatosplenomegaly, typical foam cells in the bone marrow and a deficiency of sphingomyelinase in a liver biopsy. Typical ultrastructural changes in lysosomes were found in hepatocytes and in Schwann cells. In spite of the absence of gross morphological changes in the axons and in the myelin sheath of the peripheral nerve biopsy, the nerve conduction velocity in the patient was greatly reduced. The ultrastructural aspect of the lysosomal inclusion suggested the storage of a phospholipid. Biochemical analysis of the liver biopsy demonstrated an increased content of total phospholipid of which sphingomyelin made up for more than 60%. The significance of these data are discussed.
Zusammenfassung
Das klinische, biochemische und ultrastrukturelle Bild einer Sphingolipidose vom Typ Niemann-Pick wurde an Hand eines Patienten mit der infantilen Form (A) dargestellt. Die Diagnose wurde klinisch auf Grund einer rasch progredienten psychomotorischen Retardation mit Hepatosplenomegalie sowie typischen Schaumzellen im Knochenmark gestellt und durch den Nachweis von exzessiver Speicherung von Sphingomyelin in einer Leberbiopsie und das Fehlen der Sphingomyelinase bestätigt. Ultrastrukturell konnte eine Anhäufung von präsumptiven Phospholipiden in den Lysosomen von Leber und peripherem Nerv festgestellt werden. Obwohl weder eine axonale Degeneration noch eine Demyelinisierung im biopsierten Nerv gefunden werden konnte, war die Nervenleitgeschwindigkeit in den peripheren Nerven beim Patienten schon bei der Diagnosestellung deutlich herabgesetzt. Die Bedeutung der Befunde wurde diskutiert.
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This work has been supported by the Swiss National Foundations Grant Numbers 3.1530.73, 3.327.0.74, 4.0620 and 3.302.0.74.
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da Silva, V., Vassella, F., Bischoff, A. et al. Niemann-Pick's disease. J. Neurol 211, 61–68 (1975). https://doi.org/10.1007/BF00312464
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DOI: https://doi.org/10.1007/BF00312464