Early-infantile galactosialidosis with multiple brain infarctions: Morphological, neuropathological and neurochemical findings

Acta Neuropathologica

Volumn 93, Issue 1, 1996, Pages 24-33

  Nordborg, C ^a   Kyllerman, M ^a   Conradi, N ^a   Mansson J E ^a  

^a SAHLGRENSKA UNIVERSITY HOSPITAL   (Sweden)

Author keywords

Brain infarction; Early infancy; Galactosialidosis; Neurochemistry; Neuropathology

Indexed keywords

BETA GALACTOSIDASE; CARBOXYPEPTIDASE; CARBOXYPEPTIDASE C; GANGLIOSIDE; LIPID; PPGB PROTEIN, HUMAN; SIALIDASE;

ARTICLE; BRAIN; BRAIN INFARCTION; CASE REPORT; FEMALE; HUMAN; IMMUNOHISTOCHEMISTRY; LYSOSOME STORAGE DISEASE; METABOLISM; NEWBORN; PATHOLOGY; PREGNANCY; PREMATURITY; ULTRASTRUCTURE; VISCERA;

BETA-GALACTOSIDASE; BRAIN; CARBOXYPEPTIDASE C; CARBOXYPEPTIDASES; CEREBRAL INFARCTION; FEMALE; GANGLIOSIDES; HUMANS; IMMUNOHISTOCHEMISTRY; INFANT, NEWBORN; INFANT, PREMATURE; LIPIDS; LYSOSOMAL STORAGE DISEASES; NEURAMINIDASE; PREGNANCY; VISCERA;

EID: 0030639005     PISSN: 00016322     EISSN: None     Source Type: Journal    
DOI: 10.1007/s004010050579     Document Type: Article

References (37)

1. Amano N, Yokoi S, Akagi M, Sakai M, Yagishita S, Nakata K (1983) Neuropathological findings of an autopsy case of adult β-galactosidase and neuraminidase deficiency. Acta Neuropathol (Berl) 61: 283-290
2. Aylsworth AS, Thomas GH, Hood JL, Malouf N, Libert J (1980) A severe infantile sialidosis: clinical, biochemical, and microscopic features. J Pediatr 96: 662-668
3. Crawford N (1958) An important method for the determination of free and total cholesterol using ferric chloride reaction. Clin Chim Acta 3: 357-367
4. D'Azzo A, Hoogeveen A, Reuser AJJ, Robinson D, Galjaard H (1982) Molecular defect in combined beta-galactosidase and neuraminidase deficiency in man. Proc Natl Acad Sci USA 79: 4535-4539
5. D'Azzo A, Andria G, Strisciuglio P, Galjaard H (1995) Gangliosidosis. In: Scriver CR, Beaudet AL, Sly WS, Valle D (eds) The metabolic basis of inherited disease, 7th edn. McGraw- Hill, New York, pp 2825-2837
6. Galjart NJ, Morreau H, Willemsen R, Gillemans N, Bonten EJ, D'Azzo A (1991) Human lysosomal protective protein has cathepsin A-like activity distinct from its protective function. J Biol Chem 266: 14754-14762
7. Kalimo H, Fredriksson K, Nordborg C, Auer RN, Olsson Y, Johansson B (1986) The spread of brain oedema in hypertensive brain injury. Med Biol 64: 133-137
8. Kleihues P, Kiessling M, Janzer RC (1987) Morphological markers in neuro-oncology. In. Seifert G (Ed) Morphological tumor markers. Springer, Berlin Heidelberg New York, pp 307- 338
9. Kobayashi T, Ohta M, Goto I, Tanaka Y, Kuroiwa Y (1979) Adult type mucolipidosis with β-galactosidase and sialidase deficiency. Histological and biochemical studies. J Neurol 221: 137-149
10. Koga M, Takeshi S, Fusahiro I, Nakashima S, Kameyama K, Kojima K (1978) An autopsy case of familial neurovisceral storage disease of late onset. Folia Psychiatr Neurol Jpn 32: 299-308
11. Kyllerman M, Månsson J-E, Westphal O, Conradi N, Nellström H (1993) Infantile galactosialidosis presenting with congenital adrenal hyperplasia and renal hypertension. Pediatr Neurol 9: 318-322
12. Miyatake T, Atsumi T, Obayashi T, Mizuno Y, Ando S, Ariga T, Matsui-Nakamura K, Yamada T (1979) Adult type neuronal storage disease with neuraminidase deficiency. Ann Neurol 6: 232-244
13. Nicklasson A, Ericson A, Fryer JG, Karlberg J, Lawrence C, Karlberg P (1991) An update of the Swedish reference standards for weight, length and head circumference at birth for given gestational age (1977-1981). Acta Paediatr Scand 80: 756-762
14. Nordborg C, Sokrab TEO, Johansson BB (1994) Oedema-related tissue damage after temporary and permanent occlusion of the middle cerebral artery. Neuropathol Appl Neurobiol 20: 56-65
15. Okada S, Kato T, Miura S, Yabuchi H, Nishigaki M, Kobata A, Chiyo H, Fukuyama J (1978) Hypersialyloligosacchariduria in mucolipidoses: a method for diagnosis. Clin Chim Acta 86: 159-167
16. Okamura-Oho Y, Zhang S, Callahan JW (1994) The biochemistry and clinical features of galactosialidosis. Biochim Biophys Acta 1225: 244-254
17. Oyanagi K, Ohama E, Miyashita K, Yoshino H, Miyatake T, Yamazaki M, Ikuta F (1991) Galactosialidosis: neuropathological findings in a case of the late-infantile type. Acta Neuropathol 82: 331-339
18. Pelt J van, Kuik JA van, Kamerling JP, Vliegenhart JF, Diggelen OP van, Galjaard H (1988) Storage of acid-containing carbohydrates in the placenta of a human galactosialidosis fetus. Eur J Biochim 177: 327-338
19. Pelt J van, Kamerling JP, Vliegenhart JF, Hoogeveen AT, Galjaard H (1988) A comparative study of the accumulated sialic acid containing oligosaccharides from cultured human galactosialidosis fibroblasts. Clin Chim Acta 174: 325-336
20. Pelt J van, Hard K, Kamerling JP, Vliegenhart JF, Reuser AJJ, Galjaard H (1989) Isolation and structural characterization of twenty-one sialyloligosaccharides from galactosialidosis urine. Biol Chem Hoppe Seyler 370: 191-203
21. Rosengren B, Fredman P, Månsson J-E, Svennerholm L (1989) Lysosulfatide from metachromatic leucodystrophy and normal human brain. J Neurochem 52: 1035-1041
22. Sakuraba H, Suzuki Y, Akagi M, Sakai M, Amano N (1983) β- Galactosidase-neuraminidase deficiency (galactosialidosis): clinical, pathological, and enzymatic studies in a postmortem case. Ann Neurol 13: 497-503
23. Schneider-Jakob HR, Cantz M (1991) Lysosomal and plasma membrane ganglioside GM3 sialidases of cultured human fibroblasts. Biol Chem Hoppe Seyler 372: 443-450
24. Stocker JT, Dehner LP (1992) Pediatric pathology, 1st edn, vol 2. Lippincott, Philadelphia, pp 1306-1307
25. Svennerholm L (1957) Quantitative estimation of sialic acid. II. A colorimetric resorcinol hydrochloric acid method. Biochim Biophys Acta 24: 604-611
26. Svennerholm L (1958) Quantitative estimation of sialic acids. III. An ion exchange resin method. Acta Chem Scand 12: 547- 554
27. Svennerholm L, Fredman P (1980) A procedure for the quantitative isolation of brain gangliosides. Biochim Biophys Acta 617: 97-109
28. Svennerholm L, Vanier M-T (1972) The distribution of lipids in the human nervous system. II. Lipid composition of human fetal and infant brain. Brain Res 47: 457-468
29. Svennerholm L, Fredman P, Jungbjer B, Månsson J-E, Rynmark B-M, Boström K, Hagberg B, Noren L, Santavuori P (1987) Large alterations in ganglioside and neutral glycosphingolipid patterns in brains from cases with infantile neuronal ceroid lipofuscinosis/polyunsaturated fatty acid lipidosis. J Neurochem 49: 1772-1783
30. Svennerholm L, Boström K, Helander CG, Jungbjer B (1991) Membrane lipids in the aging human brain. J Neurochem 56: 2051-2059
31. Svennerholm L, Boström K, Fredman P, Månsson J-E, Rydmark B-M (1992) Membrane lipids of human peripheral nerve and spinal cord. Biochim Biophys Acta 1128: 1-7
32. Takahashi Y, Nakamura Y, Yamaguci S, Orii T (1991) Urinary oligosaccharide excretion and severity of galactosialidosis and sialidosis. Clin Chim Acta 203: 199-210
33. Usui T, Sawaguchi S, Abe H, Iwata K, Oyanagi K (1993) Conjunctival biopsy in adult form galactosialidosis. Br J Ophthalmol 77: 165-167
34. Wenger DA, Tarby TJ, Wharton C (1978) Macular cherry red spots and myoclonus with dementia: coexistent neuraminidase and β-galactosidase deficiencies. Biochem Biophys Res Commun 82: 589-595
35. Yamano T, Shimada M (1985) Ultrastructural study on a severe infantile sialidosis (β-galactosidase-α-neuraminidase deficiency). Neuropediatrics 16: 109-112
36. Yamano T, Shimada M, Matsuzaki K, Matsumoto Y, Yoshihara W, Okada S, Inui K, Yutaka T, Yabuuchi H (1986) Pathological study on a severe sialidosis (α-neuraminidase deficiency). Acta Neuropathol (Berl) 71: 278-284
37. Yoshino H, Miyashita K, Miyatani N, Ariga T, Hashimoto Y, Tsuji S, Oyanagi K, Ohama E, Ikuta F, Suzuki A, Miyatake T (1990) Abnormal glycosphingolipid metabolism in the nervous system of galactosialidosis. J Neurol Sci 97: 53-65