ISSN:
1432-1076
Keywords:
Neuronal ceroid-lipofuscinosis
;
Serum lecithin pattern
;
Arachidonic acid
;
Linoleic acid
;
Ultrastructural inclusions
Source:
Springer Online Journal Archives 1860-2000
Topics:
Medicine
Notes:
Abstract A patient with a progressive neurological disorder beginning at the age of three years is described. Mental and visual disturbances were the first signs, soon followed by ataxia and myoclonic jerks. Fundoscopy revealed a decreased pigmentation of the retina. Ultramicroscopic investigations of muscle and skin disclosed the typical changes seen in the late infantile and juvenile forms of neuronal ceroid-lipofuscinosis. In contrast to the clinical and ultrastructural findings, the fatty acid pattern of the serum lecithin showed a significant increase of arachidonic acid and a corresponding decrease of linoleic acid which is characteristic of the so-called infantile form of neuronal ceroid-lipofuscinosis (Hagberg-Santavuori variant; polyunsaturated fatty acid lipidosis). The obvious heterogeneity of the clinical, histological and laboratory findings within the subgroups of neuronal ceroidlipofuscinosis is briefly discussed.
Type of Medium:
Electronic Resource
URL:
http://dx.doi.org/10.1007/BF00442436
