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.
This is a preview of subscription content, log in via an institution to check access.
Similar content being viewed by others
References
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)
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)
Armstrong, D., Dimmitt, S., van Wormer, D. E.: Studies in Batten disease. I. Peroxidase deficiency in granulocytes. Arch. Neurol. 30, 144–152 (1974)
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)
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)
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)
Dolman, C. L., Chang, E.: Visceral lesions in amaurotic familial idiocy with curvilinear bodies. Arch. Pathol. 94, 425–430 (1972)
Duffy, P. E., Kornfeld, M., Suzuki, K.: Neurovisceral storage disease with curvilinear bodies. J. Neuropath. Exp. Neurol. 27, 351–370 (1968)
Goebel, H. H., Zeman, W., Pilz, H.: Significance of muscle biopsies in neuronal ceroid-lipofuscinosis. J. Neurol. Neurosurg. Psychiat. 38, 985–993 (1975)
Hagberg, B., Sourander, P., Svennerholm, L.: Late infantile progressive encephalopathy with disturbed polyunsaturated fat metabolism. Acta Paediat. Scand. 57, 495–499 (1968)
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)
Kristensen, K., Sourander, P.: Occurrence of lipofuscin in inherited disorders affecting the nervous system. J. Neurol. Neurosurg. Psychiat. 29, 113–118 (1966)
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)
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)
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)
Pampiglione, G., Harden, A.: Is neuronal ceroid lipofuscinosis a single disease entity? Trans. Amer. Neurol. Ass. 100, 227–229 (1975)
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)
Pronk, J. C., Koster, J. F.: Leukocyte peroxidase in Spielmeyer-Vogt's disease. Hum. Genet. 34, 73–76 (1976)
Santavuori, P., Haltia, M., Rapola, J.: Infantile type of so-called neuronal ceroid lipofuscinosis. Develop. Med. Child. Neurol. 16, 644–653 (1974)
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)
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)
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)
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)
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 1976
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)
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)
Zeman, W., Dyken, P.: Neuronal ceroid-lipofuscinosis (Batten's disease): Relationship to amaurotic family idiocy? Pediatrics 44, 570–583 (1969)
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 1970
Author information
Authors and Affiliations
Additional information
With support of the Landesamt für Forschung des Landes Nordrhein-Westfalen
Rights and permissions
About this article
Cite this article
Becker, K., Goebel, H.H., Svennerholm, L. et al. Clinical, morphological, and biochemical investigations on a patient with an unusual form of neuronal ceroid-lipofuscinosis. Eur J Pediatr 132, 197–206 (1979). https://doi.org/10.1007/BF00442436
Received:
Issue Date:
DOI: https://doi.org/10.1007/BF00442436