Gaucher disease: A cause of massive splenomegaly in a 15-year-old black African male.

Patients with Gaucher disease (GD), a rare autosomal recessive lysosomal storage disease, commonly present to paediatricians with massive splenomegaly. While the diagnosis and management of patients with this chronic multisystem disorder has evolved significantly in recent years, the initial diagnosis represents a challenge. We describe the case of a 15-year-old black African male who presented with abdominal distension, delayed growth and fatigue. Initial laboratory studies revealed severe anaemia (haemoglobin concentration 8 g/dL) and moderate thrombocytopenia (platelet count 80 × 109/L). A computed tomography scan of the abdomen showed an enlarged liver of 173 mm and massive splenomegaly of 27 mm. The diagnosis of GD was confirmed by reduced beta-glucocerebrosidase activity and heterozygous mutations in the GBA1 gene. The patient was managed at a dedicated paediatric haematology unit with enzyme replacement therapy and regular clinical, biochemical and radiological monitoring.

Term pregnancy after three trophoblastic disease events.

A case of successful pregnancy following two hydatidiform moles and a choriocarcinoma, treated with the EMA-CO regime, is reported. This is the first reported successful pregnancy after administration of etoposide.

Retroperitoneal malignant schwannoma. A case report.

This is the 15th fully documented case of retroperitoneal malignant schwannoma in the English-language literature. The histogenesis and morphological features are described. Apart from recommending radical surgical resection with adequate tumour margins, the literature provides very little guidance on management. Our patient received adriamycin and dacarbazine as adjuvant therapy and is clinically without evidence of disease 6 months after definitive surgery.

Pregnancy after renal transplantation.

During the 13 year period 1971 to 1984 there were 38 pregnancies in 21 renal transplant patients at the Johannesburg Hospital. Twenty-two ended with live births and included two sets of twins; there were nine spontaneous abortions, six therapeutic abortions, and one stillbirth. Maternal complications were mild in the majority but five patients suffered deterioration in renal function, two undergoing transplant nephrectomy as a result of this. There were seven neonatal deaths, including both sets of twins; death was due to prematurity in six and congenital malformation (diaphragmatic hernia) in one. A further infant had congenital pyloric stenosis which was corrected surgically. Pregnancies were analysed according to whether or not their outcome was successful. Those with a successful outcome had less exposure to warfarin during pregnancy (p = 0.0025) and showed a tendency towards lower immunosuppressive doses of prednisone and azathioprine although these did not reach significance. Although these results indicate an unhappy prognosis for both the mother and fetus, two redeeming features are to be noted. Pregnancy outcome improved markedly in the latter years, possibly owing to non-exposure to warfarin, less immunosuppression, and improvement in neonatal care, and four of the five mothers who suffered deterioration in renal function were notoriously unco-operative in their medical care. Pregnancy can only be recommended in the transplanted patient who has stable renal function, is compliant in taking of medications, and whose graft is of such age that the immunosuppressive drug dose is minimal. Warfarin should be avoided.

Non-immunological hydrops fetalis: report of 6 cases and a review.

Six consecutive cases of non-immunological hydrops fetalis (NIHF) seen by the authors over a 3-year period are presented. Two cases were due to haematological causes and 3 to cardiac anomalies; in 1 case trisomy-21 with a possible associated cardiac anomaly was present. No infant survived. On the basis of this experience and a review of the literature the associated conditions, diagnosis and management of NIHF are discussed.

Diagnostic accuracy of the Accurette endometrial sampler.

The value of the Accurette endometrial sampler in the cytological and histological assessment of the endometrium was studied in 42 anaesthetized patients. Satisfactory samples for cytological diagnosis of endometrial state were obtained in 23 patients out of 24 (96%), whereas endometrial specimens suitable for histological diagnosis were obtained in 23 out of 29 patients (79%). Immediately following Accurette sampling, conventional dilatation and curettage was performed. Histological diagnosis of Accurette samples correlated with that of formal curettage in all instances except in the detection of polyps. Cytological findings with the Accurette did not correlate with those of formal curettage in 2 cases. Nevertheless, interpretation of endometrial cytology, which requires specialized knowledge and experience, is shown to provide helpful information especially in cases where curettage fails to yield tissue.

The use of a beta-sympathomimetic drug in locked twins. Case report.

Locked twins were born vaginally after hexoprenaline sulphate, a beta-sympathomimetic drug, had been used to relax the uterus so that the fetal heads could be disimpacted.