An autopsy case of fetal Gaucher disease

Pediatrics International

Volumn 40, Issue 4, 1998, Pages 374-377

  Adachi, Yasushi ^a   Kobayashi, Yasutsugu ^b   Ida, Hiroyuki ^c   Yasumizu, Ryouji ^a   Okamura, Akiharu ^d   Kayatani, Hiroshi ^a   Teranishi, Nirou ^a   Inaba, Muneo ^a   Sugihara, Akira ^a   Genba, Hisae ^a   Eto, YoshiKatsu ^c   Ikehara, Susumu ^a  

^a KANSAI MEDICAL UNIVERSITY   (Japan)

^b OSAKA CITY GENERAL HOSPITAL   (Japan)

^c JIKEI UNIVERSITY SCHOOL OF MEDICINE   (Japan)

^d KANSAI MEDICAL UNIVERSITY HOSPITAL   (Japan)

Author keywords

Autopsy; Fetal Gaucher disease; Glucocerebroside; Hydrops fetalis; Macerated fetus

Indexed keywords

CD68 ANTIGEN; GLUCOSYLCERAMIDE;

ARTICLE; AUTOPSY; BODY WEIGHT; CASE REPORT; FETUS; FETUS HYDROPS; GAUCHER DISEASE; HUMAN; HUMAN TISSUE; JAPAN; LIVER WEIGHT; PERICARDIAL EFFUSION; PRIORITY JOURNAL; SPLEEN WEIGHT; THIN LAYER CHROMATOGRAPHY;

ADULT; FEMALE; GAUCHER DISEASE; GLUCOSYLCERAMIDES; HUMANS;

EID: 7344266880     PISSN: 13288067     EISSN: 1442200X     Source Type: Journal    
DOI: 10.1111/j.1442-200X.1998.tb01952.x     Document Type: Article

References (12)

1. Barness La, Barness Eg. Metabolic disease. In: Barness Eg (ed). Potter’s Pathology of the Fetus and Infant. Mosby, St Louis, 1996; 571–647.
2. Keeling Jw. The perinatal necropsy. Keeling Jw (ed). In Fetal and Neonatal Pathology. Springer-Verlag, London, 1987; 1–30.
3. Dimmick Je, Applegrath Da. Inborn metabolic diseases of perinatal infants. In: Wigglesworth Js, Singer Db (eds). Textbook of Fetal and Perinatal Pathology. Blackwell Science, Boston, 1991; 593–640.
4. Ginsburg Sj, Groll M. Hydrops fetalis due to infantile Gaucher’s disease. J. Pediatr. 1973; 82: 1046–8.
5. Gillan Je, Lowden Ja, Gaskin K., Cutz E. Congenital ascites as a presenting sign of lysosomal storage disease. J. Pediatr. 1984;104: 225–31.
6. Aballi Aj, Kato K. Gaucher’s disease in early infancy, 1938. J. Pediatr. 1938; 13: 364–80.
7. Berstein J., Shelden We. A note on the development of Gaucher cells in a newborn infant. J. Pediatr. 1959; 55: 577–81.
8. Drukker A., Sacks Mi, Gatt S. The infantile form of Gaucher’s disease in an infant of Jewish Sephardi origin. Pediatrics 1970; 45: 1017–23.
9. White Rhr, Moncrieff A. Acute infantile Gaucher’s disease. Proc. R. Soc. Med. 1952; 52: 642–3.
10. Girgensohn H., Kellner H., Sudhof H. Congenital Gaucher’s disease with erythroblastosis and angiosclerosis. Klin. Wochenschr. 1954; 32: 57–64.
11. Kamoshita S., Odawara M., Yashida M., Owada M., Kitagawa T. Fetal pathology and ultrastructure of neuropathic Gaucher’s disease. Adv. Exp. Med. Biol. 1975; 68: 63–75.
12. Bohm N. (translated to Japanese by Fukuda Y and Hara H) Enzymdefekte und Stoffwechselstorungen. In: Kinderpathologie. Federal Republic of Germany, Stuttgart. 1984; 76–9.