A Case of Open - lip Schizencephaly

Schizencephaly, first described by Yakovlev and Wadsworth in 1946, is a rare congenital anomaly characterized by gray matter-lined clefts that extend through the entire cerebral hemisphere, from the ependymal lining of the lateral ventricle to the subarachnoid space. Clinically, patients with schizencephaly present motor dysfunction such as hemiparesis, seizures, and variable developmental delay. Absence of septum pellucidum, gray matter heterotopia, polymicrogyria, and hypoplasia of optic nerves were also frequently found to be associated with schizencephaly. We experienced a case of open-lip schizencephaly in a one-day-old male infant with wide, tense fontanel, which was confirmed by MRI.

Treatment of aplastic anemia

We performed this study to evaluate the therapeutic responses of bone marrow transplantation and immunosuppressive therapy for aplastic anemia in 103 cases (68 severe and 35 moderate). Among them, 15 cases with severe aplastic anemia having HLA-identical sibling donor underwent bone marrow transplantation, and cases(53 severe and 35 moderate cases)without available HLA-identical sibling donor had received immunosuppressive therapy using antilymphocye globulin and cyclosporin-A. The results were as follows; 1) For cases given bone marrow transplantation, successful engraftment was accomplished in all cases, but 2 cases showed rejection and 1 case died of thrombotic thrombocytopenic purpura (TTP), resulting 80% disease-free survival rate. acute graft-versus-host disease above grade II was noted in 2 cases and chronic graft-versus host disease was seen in other 2 cases. The most common pathogenic organism in post-transplantation infection was Herpes zoster (6 cases), and one each cases of Herpes simplex, candidiasis, measles and hemorrhagic cystitis developed. 2) Among 88 cases of receiving immunsouppressive therapy, complete response was seen in 26 cases (29.5%) and partial respones in 37 cases (42.0%), resulting 71.6% of overall response rate and recurrence rate was 19.5% (12 cases). In 53 severe cases, complete response was seen in 9 cases (17.0%) and partial response in 25 cases (47.2%), resulting 64.2% of overall response rate. In 35 moderate cases, complete response was seen in 17 cases (48.6%) and partial response in 12 cases(34.3%), overall response rate was 82.9%. All initial responses were seen within 6 months post-treatment period, and the time interval to initial response was 8 to 162 days (median; 53 days). There was no sex difference concerning response rate, however, partial response was predominant in male and more complete response in female. The complications of immunosuppressive therapy were thrombocytopenia (93.2%), fever (67.7%), hypertension (50.0%), skin eruption (45.8%), gingivitis (17.0%). In conclusion, our date suggest that bone marrow transplantation is preferred initial treatment modality to immunosuppressive therapy in severe aplastic anemia patient with HLA-identical sibling donor, and immunosuppression is a satisfactory alternative therapy for children with severe aplastic anemia in the absence of HLA-identical sibling and for whom with moderate aplastic anemia.

Intermittent central nervous system irradiation and intrathecal chemotherapy for recurrent central nervous system leukemia in children

Between 1986 and 1990, four children with recurrent CNS leukemia who had previous CNS prophylaxis therapy were treated with intermittent central nervous system irradiation and intrathecal chemotherapy (IIIC). There was no isolated CNS recurrence. One patient died form bone marrow relapse. Three patients are alive without evidence of disease for 3E3/12 year to 3E6/12 year after the diagnosis of recurrence of CNS leukemia. This experience suggests that IIIC may be an effective treatment for preventing the recurrence of CNS leukemia without any serious side effects.

High-Dose intravenous immune globulin therapy for hyperbilirubinemia caused by ABO incompatibility

Four newborn infants with hyperbilirubinemia, caused by ABO blood group incompatibility, were treated with high-dose intravenous immune globulin(IVIG). As soon as the diagnosis was clinically suspected, these infants received conventional treatment including phototherapy and were monitored closely for bilirubin levels. When bilirubin concentrations reached the risk point in spite of phototherapy, IVIG was given at a dose of 1g/kg for 6 hours. In all cases, bilirubin levels declined within 12 hours after LVIG therapy, and to rebound effect was seen, No side effects of IVIG treatment were observed. We suggest that high-dose IVIG therapy may be useful in the treatment of hyperbilirubinemia due to ABO incompatibility, and reduce the need for exchange transfusion.