[Disseminated lipogranulomatosis (Farber disease) with hydrops fetalis].
We report on a female preterm infant of 29 weeks' gestation with severe hydrops fetalis who died 3 days post natum as a result of disseminated intravascular coagulation. Autopsy findings included anasarca, bilateral pleural effusions, ascites and hepatosplenomegaly as well as multiple, up to pinhead sized, white granulomas on the surface of liver, spleen and lungs. Microscopy revealed storage macrophages of the reticuloendothelial system, especially in liver, spleen and bone marrow, the lymphatic organs, the salivary glands, the thyroid gland and the suprarenal medulla. Cerebrum, heart, kidneys, intestines and placenta were not afflicted. Atrophy of the lymphatic compartments in the spleen, lymph nodes and thymus, as well as disorder of the liver texture, are presumably a secondary result. The diagnosis of Farber's disease was established biochemically by the demonstration of ceramide depositions in the spleen, and in fibroblast cultures in situ by the accumulation of ceramide released from loaded radioactive glucosylceramide. Ultrastructurally, corresponding storage lysosomes were found in macrophages. To our knowledge this is the first account of Farber's disease in a preterm infant with hydrops fetalis.
Schäfer
A
A
Abteilung für Pathologie, Allgemeines Krankenhaus Wandsbek, Hamburg.
Harzer
K
K
Kattner
E
E
Schäfer
H J
HJ
Stoltenburg
G
G
Lietz
H
H
D000581:Amidohydrolases / Q000172:deficiency; D001853:Bone Marrow / Q000473:pathology; D055572:Ceramidases; D002518:Ceramides / Q000378:metabolism; D005260:Female; D006099:Granuloma / Q000151:congenital* / Q000473:pathology; D006801:Humans; D007231:Infant, Newborn; D007235:Infant, Premature, Diseases / Q000473:pathology*; D007668:Kidney / Q000473:pathology; D008099:Liver / Q000473:pathology; D008208:Lymphatic System / Q000473:pathology; D016464:Lysosomal Storage Diseases / Q000473:pathology*; D012469:Salivary Glands / Q000473:pathology; D013154:Spleen / Q000473:pathology; D013961:Thyroid Gland / Q000473:pathology
D002518:Ceramides; D000581:Amidohydrolases; D055572:Ceramidases
Disseminierte Lipogranulomatose (M. Farber) mit Hydrops fetalis.