European Journal of Pediatrics

, Volume 132, Issue 3, pp 197–206 | Cite as

Clinical, morphological, and biochemical investigations on a patient with an unusual form of neuronal ceroid-lipofuscinosis

  • K. Becker
  • H. -H. Goebel
  • L. Svennerholm
  • U. Wendel
  • H. J. Bremer
Original Investigations

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.

Key words

Neuronal ceroid-lipofuscinosis Serum lecithin pattern Arachidonic acid Linoleic acid Ultrastructural inclusions 

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Copyright information

© Springer-Verlag 1979

Authors and Affiliations

  • K. Becker
    • 1
  • H. -H. Goebel
    • 2
  • L. Svennerholm
    • 3
  • U. Wendel
    • 1
  • H. J. Bremer
    • 1
  1. 1.University Childrens Hospital C, University of DüsseldorfDüsseldorfFederal Republic of Germany
  2. 2.Neurologic Clinic, Dept. of NeuropathologyUniversity of GöttingenGöttingenFederal Republic of Germany
  3. 3.Psychiatric Research Centre, Dept. of NeurochemistrySt. Jörgen HospitalHisings Backa 3Sweden

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