Neuropsychological and linguistic follow-up studies of children with galactosaemia from an unscreened population

Many galactosaemics appear to have neuropsychological and/or linguistic problems in spite of dietary treatment. Because the neonatal screening program in Norway does not include galactosaemia, we have re-examined Norwegian galactosaemics. Of 16 known patients, 8 patients participated in the study. They had been diagnosed between 2 and 11 weeks of age, and were between 9 months and 19 years old at the time of this study. All had very low or 0 activity of galactose-1-phosphate uridyl transferase. As part of the study all were examined neurologically, and had an age-appropriate developmental/IQ test, an ABR and an EEG, and a comprehensive psycholinguistic evaluation. The three youngest patients had normal developmental/IQ tests, while the five older patients had IQ scores in or below low range of normal. The majority had delayed language development and three patients were classified as having verbal dyspraxia. ABR and EEG showed mild pathology in the oldest patient only. Galactosaemia appears to be associated with significant risks of developmental and language delays in this unscreened population.     

Pancreas divisum: thin-section CT

Twelve patients with known pancreas divisum underwent thin-section computed tomography (CT) to determine the capability of CT to depict this pancreatic anomaly. Focal pancreatic enlargement was present in five patients. Two distinct pancreatic moieties separated by a fat cleft were noted in three patients; a fourth patient had focal atrophy in the distribution of the dorsal pancreas. The two pancreatic moieties were identified at the same craniocaudal level in all four of these patients. The dorsal duct was depicted in all 12 patients, while the short ventral duct was seen in only five of the 12 patients. Failure of the ventral and dorsal pancreatic ducts to fuse was identified in all five patients in whom both ducts were seen. CT may not enable specific diagnosis of pancreas divisum in the majority of patients. If, however, distinct pancreatic moieties or unfused ductal systems are evident, the diagnosis may be confidently suggested.     

Management of idiopathic thrombocytopenic purpura during pregnancy.

Management of idiopathic thrombocytopenic purpura (ITP) during pregnancy requires concern for both fetal and maternal morbidity and death. A review of 14 pregnancies revealed significant maternal morbidity but no maternal deaths. The perinatal mortally was21 per cent. Current recommendations for management include: (1) corticosteroids, (2) splenectomy if response is unsatisfactory with (1), (3) liberal use of platelet transfusion if surgical intervention is required in the face of significant thrombocytopenia, and (4) careful observation of the newborn infant and treatment with corticosteroids and/or platelets if thrombacytopenia is severe.     

Female sterilization. III. vaginal hysterectomy.

One hundred and eleven cases of vaginal hysterectomy for sterilization, performed over a period of five and a half years, were analyzed and compared with alternative methods of female sterilization. The mean operating time for vaginal hysterectomy was 98 minutes, and the mean length of hospitalization was 9.5 days. Immediate morbidity of one sort or another occurred in 89 cases (90.0 per cent), while the incidence of standard morbidity was 40.9 percent (35 cases). These data compare most unfavorably with findings for interval tubal ligation by either the vaginal or laparoscopic approach. Our data indicate that vaginal hysterectomy for sterilization should be used only in selected patients where there is a clear indication for hysterectomy above and beyond the desire for sterilization.     

Embryo reduction: our experience

Background

The transvaginal ultrasound-guided embryo reduction technique is a feasible option for the prevention and management of the medical and obstetric risks associated with high-order multiple pregnancy resulting from assisted reproductive treatment.

Method

Multifoetal pregnancy reduction was carried out in 51 in vitro fertilisation pregnancies (IVF) and one intrauterine quintuplet pregnancy resulting from intrauterine insemination (IUI) using transvaginal approach under ultrasonographic guidance.

Results

Of the 52 embryo reduction procedures, 48 (92%) were performed between the seventh and eighth weeks of gestation, three between eighth and ninth weeks and one in the 10th week of gestation. Forty-nine patients (94%) underwent reduction from triplets to twins, two from quadruplet to twins, and one from quintuplet to twin pregnancy. The average time required for the embryo reduction was 5.0±0.5 minutes per sac in early gestation (6th-9th weeks), increasing to 8.5 minutes per sac for later procedures, due to technical difficulties brought about by increased embryo size and mobility. All embryo reduction procedures were successfully performed in a single session.

Conclusion

Transvaginal ultrasound guided embryo reduction technique performed between seventh and eighth-weeks of gestation is an effective and safe procedure for embryo reduction.