title: Pigment variant of lipofuscinosis.
abstract: A woman had a progressive neurologic syndrome beginning at age 3 and lasting for three decades. Clinical manifestations included severe mental deterioration, spastic paralysis, myoclonus, and tremors. A postmortem examination showed ubiquitous infiltration of neurons by lipofuscin and deposits of pigment in the globus pallidus and substantia nigra, as well as senile changes of nerve cells. Biochemical investigation of brain lipids showed an alteration of fatty acid composition of serine phosphoglycerides.
mesh_terms: D000328:Adult; D001921:Brain / Q000473:pathology; D005260:Female; D005917:Globus Pallidus / Q000378:metabolism; D005994:Glycerophosphates / Q000378:metabolism; D006801:Humans; D008064:Lipidoses / Q000378:metabolism* / Q000473:pathology; D008062:Lipofuscin / Q000378:metabolism; D010860:Pigments, Biological / Q000378:metabolism*; D013378:Substantia Nigra / Q000378:metabolism
chemical_list: D005994:Glycerophosphates; D008062:Lipofuscin; D010860:Pigments, Biological