Summary
Two own and several observations of the literatur suggest the existence of an apparently new type of storage disease to be classified between the sphingolipidoses and the mucopolysaccharidoses.
The 5 and 13 year old boys exhibit gargoyl-like features, skeletal dysplasia, slow cerebral degeneration, vacuolized lymphocytes and granular, metachromatically reacting inclusions in lymphocytes, fibroblasts, bone marrow and liver cells. A peculiar, coarsely vacuolated and granulated storage cell was found in the bone marrow. In the urinary sediment heavy metachromatic material in and outside the cells was demonstrated, possibly corresponding to a hexosamine-rich, unidentified glycoprotein. The excretion of acid mucopolysaccharides was normal. In the course of the disease symptoms of lower neuron neuropathy developed with myelin degeneration and metachromatic deposits. A cherry-red macular spot was observed in one of our patients and a similar patient briefly described by Bernard et al.
“Lipomucopolysaccharidosis” is differentiated from other subtypes in this “intermediary group” of storage diseases such as the subtype of metachromatic leucodystrophy described by Austin, generalized gangliosidosis (Landing et al.) and pseudopolydystrophy (Maroteaux and Lamy).
Zusammenfassung
An Hand von zwei eigenen und mehreren Beobachtungen der Literatur wird auf eine Gruppe von Speicherkrankheiten hingewiesen, die zwischen die Sphingolipoidosen und Mucopolysaccharidosen einzuordnen ist.
In dieser “Intermediärgruppe” lassen sich verschiedene Formen abgrenzen. Die beiden eigenen Patienten gehören zu einer vorläufig als “Lipomucopolysaccharidose” bezeichneten Untergruppe. Neben gargoylhafter Dysmorphie, Dysostose und psychomotorischer Retardierung bzw. Demenz haben die 5 und 13 Jahre alten Patienten granuläre, metachromatisch reagierende, daneben grobtropfige Einschlüsse in Lymphocyten, Knochenmarks- und Leberzellen, eine progrediente periphere Neuropathie mit Markscheidenzerfall, später auch Ataxie und Tremor. Ein kirschroter Fleck des Augenhintergrundes wurde bei einem eigenen Patienten und einem Fall der Literatur beobachtet. Die Ausscheidung saurer Mucopolysaccharide im Harn ist normal.
Weitere Krankheitsbilder dieser “Intermediärgruppe” sind die metachromatische Leukodystrophie Typ Austin, die generalisierte Gangliosidose und die Pseudopolydystrophie.
This is a preview of subscription content, log in via an institution to check access.
Similar content being viewed by others
Literatur
Althoff, H., u. H.-R. Wiedemann: Die Mucopolysaccharidosen. Med. Welt (Stuttg.) 1965, 2299.
—— Enchondrale Dysostosen. In: Handb. Kinderheilk., hrsg. v. H. Opitz u. F. Schmid, Bd. VI. Berlin-Heidelberg-New York: Springer 1967.
Attal, C., E. Farkas-Bargeton, G. W. F. Edgar, Pham-Huu-Trung, F. Girard et P. Mozziconnacci: Idiotie amaurotique infantile familiale avec surcharge viscérale. Ann. Pédiat. 43, 1725 (1967).
Austin, J. H.: Mental retardation. Metachromatic leucodystrophy. In: Medical Aspects of Mental Retardation, p. 768ff. Ed. C. H. Carter. Springfield (Ill.): C. G. Thomas 1965.
— Some recent findings in leucodystrophies and gargoylism. In: Inborn errors of sphingolipid metabolism, p. 359ff. Ed. S. M. Aronson and B. W. Volk. Glasgow: Pergamon Press 1967.
Baker, L.: zit. n. A. G. E. Pearse.
Bernard, R., A. Orsini, F. Giraud, M. Bernard-Badier, R. Mariani et L. Vo-Van: Ostéodystrophie complexe à type de maladie de Hurler. Pédiatrie 21, 365 (1966).
Bischel, M., J. Austin, and M. Kemeny: Metachromatic leucodystrophy. Arch. Neurol. (Chic.) 15, 13 (1966).
Boas, N. F.: Method for the determination of hexosamines in tissues. J. biol. Chem. 204, 553 (1953).
Brady, R. O.: Enzymatic abnormalities in diseases of sphingolipid metabolism. Clin. Chem. 13, 565 (1967).
Christiaens, L., R. Walbaum, J.-R. Farriaux et R. Cuvelier: Maladie de Hurler chez un nourrisson. Pédiatrie 19, 231 (1964).
Craig, J. M., J. T. Clarke, and B. Q. Banker: A metabolic neurovisceral disorder with the accumulation of an unidentified substance. A variant of Hurler's Syndrome. Amer. J. Dis. Child. 98, 577 (1959).
Diezel, P. B.: Die Stoffwechselstörungen der Sphingolipoide. Berlin-Göttingen-Heidelberg: Springer 1957.
Dische, Z.: A new specific color reaction of hexuronic acids. J. biol. Chem. 167, 189 (1947).
Durand, P., C. Borrone, and G. Della Cella: A new mucopolysaccharide lipidstorage disease? Lancet 1966 II, 1313.
Durand, P., C. Borrone, and G. Della Cella, and M. Philippart: Fucosidosis. Lancet 1968 I, 1198.
—, M. Philippart, C. Borrone, and G. Della Cella: A new Glycolipid storage disease. Pediatr. Res. 1, 416 (1967).
Gonatas, N. K., and J. Gonatas: Ultrastructural and biochemical observations on a case of systemic late infantile lipidosis and its relationship to Tay-Sachs disease and gargoylism. J. Neuropath. exp. Neurol. 24, 318 (1965).
Haust, M. D., zit. n. J. W. Steiner: Pathology of the liver. In: Intern. Rev. of Pathology 3. New York: Academic Press 1964.
Hers, F.: Inborn lysosomal diseases. Gastroenterology 48, 625 (1964).
Hoof, F. van, and H. G. Hers: L'ultrastructure des cellules hépatiques dans la maladie de Hurler (gargoylisme). C. R. Acad. Sci. (Paris) 259, 1281 (1964).
Junge-Hülsing, G.: Untersuchungen zur Pathophysiologie des Bindegewebes. Heidelberg: Hüthig 1965.
Klinger, H. P., u. G. Schwarzacher: XY/XXY and sex chromatin positive cell distribution in a 60 mm human fetus. Cytogenetics 1, 266 (1962).
Lagunoff, D., and T. L. Gritzka: The site of mucopolysaccharide accumulation in Hurler's Syndrome. Lab. Invest. 15, 1578 (1966).
—, R. Ross, and E. P. Benditt: Histochemical and electron microscopic study in a case of Hurler's syndrome. Amer. J. Path. 41, 273 (1962).
Lake, B. D.: A reliable rapid screening test for sulphatide lipidosis. Arch. Dis. Childh. 40, 284 (1965).
Landing, B. H., and O. G. Freeman: Histochemical studies on the cerebral lipidoses and other cellular metabolic disorders. Amer. J. Path. 33, 1 (1957).
Landing, B. H., and J. H. Rubinstein: Biopsy diagnosis of neurologic diseases in childhood with emphasis on lipidosis. In: Cerebral Sphingolipidosis, Ed. S. M. Aronson and B. W. Volk. New York: Academic Press 1962.
—, F. N. Silverman, J. M. Craig, M. D. Jacoby, M. E. Lahey, and D. L. Chadwik: Familial neurovisceral lipidosis. Amer. J. Dis. Child. 108, 503 (1964).
Langer, L. O., R. S. Kronenberg, and R. J. Gorlin: A case simulating Hurler Syndrome of unusual longevity, without abnormal mucopolysacchariduria. Amer. J. Med. 40, 448 (1966).
Leder, L.-D.: Persönliche Mitteilung.
Leroy, J. G., and R. I. Demars: Mutant enzymatic and cytological phenotype in cultured human fibroblasts. Science 157, 804 (1967).
Leroy, J. G., and R. I. Demars, and J. M. Opitz: I-cell-disease. 1st conference on the clinical delineation of birth defects. Baltimore, 20.–25. 5. 1968.
Lillie, R. D.: Histopathologic technic and practical histochemistry. Philadelphia: Blakeston 1954.
Maroteaux, P., and M. Lamy: Hurler's Disease, Morquio's Disease and related mucopolysaccharidoses. J. Pediat. 67, 312 (1965).
—— La pseudopolydystrophie de Hurler. Presse méd. 74, 2889 (1966).
McKusick, V. A.: Heritable disorders of connective tissues. St. Louis: Mosby 1966.
—, D. Kaplan, D. Wise, W. B. Hanley, S. B. Suddarth, M. E. Sevick, and A. E. Maumanee: The genetic mucopolysaccharidoses. Medicine (Baltimore) 44, 445 (1965).
McManus, J. F. A.: Demonstration of certain fatty substances in paraffin sections. J. Path. Bact. 58, 93 (1946).
Mercier, J., et M. Sizaret: Un cas de gargoylisme adulte. Bull. Soc. Ophtal. Fr. 1959, 102.
Norman, R. M., H. Urich, A. H. Tingey, and R. A. Goodboy: Tay-Sachs' disease with visceral involvement and its relationship to Niemann-Pick's disease. J. Pathol. 78, 409 (1959).
O'Brien, J. S., M. B. Stern, B. H. Landing, J. K. O'Brien, and G. N. Donnell: Generalized gangliosidosis. Amer. J. Dis. Child. 109, 338 (1965).
Orizaga, M., M. D. Haust, and A. M. Bryans: Electron microscopic studies of liver in Hurler's syndrome. Fed. Proc. 22, 484 (1963).
Pearse, A. G. E.: Histochemistry, theoretical and applied. London: Churchill 1961.
Sacrez, R., J. G. Juif, J. M. Gigonnet et J. E. Gruner: La maladie de Landing. Pédiatrie 22, 143 (1967).
Sanfilippo, S. J., J. Yunis, and H. G. Worthen: An unusual storage disease resembling the Hunter-Hurler-Syndrome. Amer. J. Dis. Child. 104, 553 (1962).
Schultze, H. E., R. Schmidtberger u. H. Haupt: Untersuchungen über die gebundenen Kohlenhydrate in isolierten Plasmaproteinen. Biochem. Z. 329, 490 (1958).
Scott, C. R., D. Lagunoff, and B. F. Trump: Familial neurovisceral lipidosis. J. Pediat. 71, 357 (1967).
Spranger, J.: Neue klinische und biochemische Erkenntnisse bei generalisierten Dysostosen. In H.-R. Wiedemann: Dysostosen. Stuttgart: Fischer 1965.
—, u. H.-R. Wiedemann: Untersuchungen zur Zusammensetzung der Urin-Mukopolysaccharide bei Kindern und Erwachsenen. Clin. chim. Acta 17, 142 (1967).
Steedman, A.: zit. n. A. G. E. Pearse.
Teller, W., H. Bechtelsheimer u. V. Totovic: Die Heparitinsulfat-Mucopolysaccharidose (Sanfilippo). Klin. Wschr. 45, 497 (1967).
Thieffry, S., G. Lyon et P. Maroteaux: Encephalopathie métabolique associant une mucopolysaccharidose et une sulfatidose. Arch. franç. Pédiat 24, 425 (1967).
van Hoof, F., and H. G. Hers: Mucopolysaccharidosis by absence of α-Fucosidase. Lancet 1968 I, 1198.
Wallace, B. J., D. Kaplan, M. Adachi, L. Schneck, and B. W. Volk: Mucopolysaccharidosis type III. Arch. Path. 82, 462 (1966).
Author information
Authors and Affiliations
Additional information
Herrn Professor Dr. Bennholdt-Thomsen, Köln, zum 65. Geburtstag.
Rights and permissions
About this article
Cite this article
Spranger, J., Wiedemann, H.R., Tolksdorf, M. et al. Lipomucopolysaccharidose. Z. Kinder-Heilk. 103, 285–306 (1968). https://doi.org/10.1007/BF00439910
Received:
Issue Date:
DOI: https://doi.org/10.1007/BF00439910