Jan·sky-Bielschowsky disease (j n sk , yän-)n. The early juvenile type of cerebral sphingolipidosis. Also called Bielschowsky's disease. |
Jansky-Bielschowsky disease
[yahn′skē byelschov′ske]
the late infantile form of neuronal ceroid lipofuscinosis, occurring between 2 and 4 years of age and characterized by abnormal accumulation of lipofuscin. It begins as myoclonic seizures and progresses to neurologic and retinal degeneration and death, usually by the age of 8 to 12 years.
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