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An autopsy case of fetal Gaucher disease
Author(s) -
Adachi Yasushi,
Kobayashi Yasutsugu,
Ida Hiroyuki,
Yasumizu Ryouji,
Okamura Akiharu,
Kayatani Hiroshi,
Teranishi Nirou,
Inaba Muneo,
Sugihara Akira,
Genba Hisae,
Eto YoshiKatsu,
Ikehara Susumu
Publication year - 1998
Publication title -
pediatrics international
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.49
H-Index - 63
eISSN - 1442-200X
pISSN - 1328-8067
DOI - 10.1111/j.1442-200x.1998.tb01952.x
Subject(s) - medicine , fetus , glucocerebroside , autopsy , pathology , gaucher's disease , ascites , spleen , hydrops fetalis , gestation , disease , pleural effusion , pregnancy , gastroenterology , glucocerebrosidase , genetics , biology
Background : A case of fetal form of Gaucher disease in a Japanese fetus is presented. Results : A macerated baby showing hydrops fetalis was dissected at 29 weeks of gestation. The fetus was heavier in the body, liver and spleen than a normal fetus at the same gestation period. It also suffered from pericardial effusion and ascites. The diagnosis of Gaucher disease was made by histological and biochemical findings. In microscopical examinations ‘Gaucher cells’, which were periodic acid‐Shiff (PAS)‐positive, alcian blue‐positive and CD68‐positive. existed in the lungs, liver, spleen, thymus, adrenal glands, bone mafrow and brain. In thin layer chromatography, a large quantity of glucocerebroside was seen to have accumulated in the patient's organs.