PT  - JOURNAL ARTICLE
AU  - J Nelson
AU  - B Kenny
AU  - D O'Hara
AU  - A Harper
AU  - D Broadhead
TI  - Foamy changes of placental cells in probable beta glucuronidase deficiency associated with hydrops fetalis.
AID  - 10.1136/jcp.46.4.370
DP  - 1993 Apr 01
TA  - Journal of Clinical Pathology
PG  - 370--371
VI  - 46
IP  - 4
4099  - http://jcp.bmj.com/content/46/4/370.short
4100  - http://jcp.bmj.com/content/46/4/370.full
SO  - J Clin Pathol1993 Apr 01; 46
AB  - Mucopolysaccharidosis type VII (MPS VII, beta glucuronidase deficiency) has been described in association with non-immune hydrops fetalis. Three consecutive pregnancies in an itinerant family, which resulted in stillbirths caused by non-immune hydrops are described. The parents were closely related and there was a strong family history of storage disorders. The main clue to the diagnosis, however, came from the presence of pronounced foamy cytoplasmic change in the villous Hofbauer cells of the placenta. This raised the possibility of an inherited metabolic storage disorder. The parents were subsequently shown to have beta glucuronidase activities in the heterozygous range in leucocytes and fibroblasts which suggested that the non-immune hydrops was caused by beta glucuronidase deficiency.