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


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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  1. Anzil, A. P., Blinzinger, K., Harzer, K., Reither, M., Zimmermann, G.: Cytosome morphology and distribution of generalized ceroid lipofuscinosis in a twenty-eight month old boy with normal myeloperoxidase activity. Neuropädiatrie 6, 259–263 (1975)Google Scholar
  2. Anzil, A. P., Martinus, J., Blinzinger, K.: Follow-up study of a case of generalized ceroid lipofuscinosis of childhood with special reference to the finding of an abnormal serum lecithin fatty acid pattern. Neuropädiatrie 7, 362–367 (1976)Google Scholar
  3. Armstrong, D., Dimmitt, S., van Wormer, D. E.: Studies in Batten disease. I. Peroxidase deficiency in granulocytes. Arch. Neurol. 30, 144–152 (1974)Google Scholar
  4. Arsenio-Nunes, M. L., Goutières, F.: An ultramicroscopic study of the skin in the diagnosis of the infantile and late infantile types of ceroid-lipofuscinosis. J. Neurol. Neurosurg. Psychiat. 38, 994–999 (1975)Google Scholar
  5. Carpenter, S., Karpati, G., Andermann, F.: Specific involvement of muscle, nerve, and skin in late infantile and juvenile amaurotic idiocy. Neurology 22, 170–186 (1972)Google Scholar
  6. Ceuterick, Ch., Martin, J. J., Caesar, P., Edgar, G. W. F.: The diagnosis of infantile generalized ceroid-lipofuscinosis (type Hagberg-Santavuori) using skin biopsy. Neuropädiatrie 7, 250–260 (1976)Google Scholar
  7. Dolman, C. L., Chang, E.: Visceral lesions in amaurotic familial idiocy with curvilinear bodies. Arch. Pathol. 94, 425–430 (1972)Google Scholar
  8. Duffy, P. E., Kornfeld, M., Suzuki, K.: Neurovisceral storage disease with curvilinear bodies. J. Neuropath. Exp. Neurol. 27, 351–370 (1968)Google Scholar
  9. Goebel, H. H., Zeman, W., Pilz, H.: Significance of muscle biopsies in neuronal ceroid-lipofuscinosis. J. Neurol. Neurosurg. Psychiat. 38, 985–993 (1975)Google Scholar
  10. Hagberg, B., Sourander, P., Svennerholm, L.: Late infantile progressive encephalopathy with disturbed polyunsaturated fat metabolism. Acta Paediat. Scand. 57, 495–499 (1968)Google Scholar
  11. Hagberg, B., Haltia, M., Sourander, P., Svennerholm, L., Eeg-Olofsson, O.: Polyunsaturated fatty acid lipidosis. Infantile form of so-called neuronal ceroid lipofuscinosis. I. Clinical and morphological aspects. Acta Paediat. Scand. 63, 753–763 (1974)Google Scholar
  12. Kristensen, K., Sourander, P.: Occurrence of lipofuscin in inherited disorders affecting the nervous system. J. Neurol. Neurosurg. Psychiat. 29, 113–118 (1966)Google Scholar
  13. Levine, A. S., Lemieux, B., Brunning, R., White, J. G., Sharp, H. L., Stadlan, E., Krivit, W.: Ceroid accumulation in a patient with progressive neurological disease. Pediatrics 42, 483–491 (1968)Google Scholar
  14. Markesbery, W. R., Shield, L. K., Egel, R. T., Jameson, H. D.: Late-infantile neuronal ceroidlipofuscinosis. An ultrastructural study of lymphocyte inclusions. Arch. Neurol. 33, 630–635 (1976)Google Scholar
  15. O'Brien, J. S., Okada, S., Wan Ho, M., Fillerup, D. L., Veath, M. L., Adams, K.: Ganglioside storage diseases. Fed. Proc. 30, 956–969 (1971)Google Scholar
  16. Pampiglione, G., Harden, A.: Is neuronal ceroid lipofuscinosis a single disease entity? Trans. Amer. Neurol. Ass. 100, 227–229 (1975)Google Scholar
  17. Pilz, H., O'Brien, J. S., Heipertz, R.: Human leukocyte peroxidase: Activity of a soluble and membrane-bound enzyme form in normal persons and patients with neuronal ceroid-lipofuscinosis. Metabolism 25, 561–570 (1976)Google Scholar
  18. Pronk, J. C., Koster, J. F.: Leukocyte peroxidase in Spielmeyer-Vogt's disease. Hum. Genet. 34, 73–76 (1976)Google Scholar
  19. Santavuori, P., Haltia, M., Rapola, J.: Infantile type of so-called neuronal ceroid lipofuscinosis. Develop. Med. Child. Neurol. 16, 644–653 (1974)Google Scholar
  20. Schuurmans Stekhoven, J. H., van Haelst, U. J. G. M., Joosten, E. M. G., Loonen, M. C. B.: Ultrastructural study of the vacuoles in the peripheral lymphocytes in juvenile amaurotic idiocy. Juvenile form of generalized ceroid lipofuscinosis. Acta neuropath. (Berl.) 38, 137–142 (1977)Google Scholar
  21. Siakotos, A. N., Watanabe, I., Saito, A., Fleischer, S.: Procedures for the isolation of two distinct lipopigments from human brain: Lipofuscin and ceroid. Biochem. Med. 4, 361–375 (1970)Google Scholar
  22. Siakotos, A. N., Koppang, N., Youmans, S., Bucana, C.: Blood levels of α-tocopherol in a disorder of lipid peroxidation: Batten's disease. Amer. J. Clin. Nutr. 27, 1152–1157 (1974)Google Scholar
  23. Svennerholm, L., Hagberg, B., Haltia, M., Sourander, P., Vanier, M. T.: Polyunsaturated fatty acid lipidosis. II. Lipid biochemical studies. Acta Paediat. Scand. 64, 489–496 (1975)Google Scholar
  24. Svennerholm, L.: Polyunsaturated fatty acid lipidosis: A new nosological entity. In: Current trends in sphingolipidoses and allied disorders, B. W. Volk, L. Schneck (eds.), pp. 389–402. New York:Plenum Press 1976Google Scholar
  25. Svennerholm, L., Vanier, M. T.: The distribution of lipids in the human nervous system. III. Fatty acid composition of phosphoglycerides of human fetal and infant brain. Brain Res. 50, 341–351 (1973a)Google Scholar
  26. Svennerholm, L., Vanier, M. T.: The distribution of lipids in the human nervous system. IV. Fatty acid composition of major sphingolipids of human infant brain. Brain Res. 55, 413–423 (1973b)Google Scholar
  27. Zeman, W., Dyken, P.: Neuronal ceroid-lipofuscinosis (Batten's disease): Relationship to amaurotic family idiocy? Pediatrics 44, 570–583 (1969)Google Scholar
  28. Zeman, W., Donahue, S., Dyken, P., Green, J.: The neuronal ceroid-lipofuscinosis (Batten-Vogt syndrome). In: Handbook of clinical neurology, P. J. Vinken, G. W. Bruyn (eds.), Vol. 10, pp. 588–679. Amsterdam: North Holland Publishing Company 1970Google Scholar

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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