Gaucher's disease in a mother and daughter.

Abstract

on pulse or blood pressure were seen. Two patients showed a transient fall in systolic and diastolic pressures of about 10 mmHg after the first injection, but this returned to the resting level and was not repeated on subsequent instillations. Temperature remained within normal limits throughout and no cases of infection occurred. DiscussionWith the intrauterine route of adniinistration termination of pregnancy was effected in 14 out of 15 cases. In this small series no obvious differences were seen between patients in the first and those in the second trimester of pregnancy. There was a wide range of 71 to 34 hours in the inductionabortion interval in the successful cases, with a mean time of 18 hours. The total dose in patients receiving PGE2 varied from 350 to 2,500 ,ug, with a mean dose of 1,177 ,Ig. This is considerably less than the total dose required by intravenous infusion, which in our own series was from 270 to 6,750 ,ug, with an average of 3,500 ,ug.We have not found the side effects of vomiting and diarrhoea a serious problem with intravenous infusions of PGE2. Vomiting may occur with the higher doses but is rarely persistent and diarrhoea is practically never seen. It might be expected that these subjective symptoms would be less with intrauterine instillation but in fact most patients in this study vomited on one or two occasions. In contrast, diarrhoea and vomiting commonly accompany infusions of high concentrations of PGF2a intravenously. Karim and Filshie (1970b) reported diarrhoea in 50% of patients receiving 50 ,ug of PGF2a a minute. With intrauterine administration of PGF2a these symptoms are probably much reduced (Wiqvist and Bygdeman, 1970) and the two patients in this study receiving PGF2a were symptom-free.The only data with which we can compare the results of this study are those reported by Wiqvist and Bygdeman (1970). They recorded complete or "partial" abortion in 12 out of 13 patients given prostaglandins. All their patients, however, were in the first trimester, while most of ours were in the second, and only three were given PGE2 (in amounts up to 1,050 ,ug) the rest receiving PGF2a (maximum total dose 5,400,ug Medical_Journal, 1971, 1, 590-591 Gaucher's disease is a rare familial disorder of sphingolipid metabolism characterized by abnormal storage of cerebroside in reticuloendothelial cells. It is caused by a deficiency of the enzyme glucocerebrosidase. The commoner childhood form usually runs an acute course. In the adult it is protracted with progressive splenomegaly, hepatomegaly, skeletal lesions, pigmentation, and often evidence of hypersplenism (Medoff

Mutation analysis of an Ashkenazi Jewish family with gaucher disease in three successive generations

“…This probably accounts for occasional reports of Ashkenazi Jewish pedigrees with affected individuals in 2 successive generations [Bloem et al, 1936;Hsia et al, 1959;Sood and Fielding, 1971;Matoth et al, 1974, Kolodny et al, 1982Zlotogora et al, 19861. In most of these cases, enzyme assays have confirmed an autosomal recessive pattern of transmission.…”