Yukitoshi Shimizu

Isolated sleep apnea due to Chiari type I malformation and syringomyelia

We report an 11-year-old girl with Chiari type I malformation and syringomyelia, who experienced isolated sleep apnea without other neurologic problems. Monitoring with oximetry and movement of thoracic and abdominal walls indicated mixed-type sleep apnea. Chiari type I malformation should be differentiated from other disorders causing sleep apnea.

Novel breakpoints of the EWS gene and the WT1 gene in a desmoplastic small round cell tumor.

We report here a 15-year-old boy with an intraabdominal desmoplastic small round cell tumor (DSRCT). Cytogenetic analysis of the tumor cells showed the chromosomal translocation (11;22). Reverse-transcriptase polymerase chain reaction and sequencing analysis revealed a chimeric transcriptional message of the EWS gene exon 10 fused to the WT1 gene exon 8. The typical chimeric transcript seen in DSRCT is an in-frame fusion of EWS exon 7 to WT1 exon 8. The tumor in this case had a novel and longer chimeric transcript, which should be a potent transcription factor. Genetic analysis is a very powerful and specific aid in the differential diagnosis of small round cell tumors.

Successful unrelated donor bone marrow transplantation for shwachman-diamond syndrome with leukemia

Shwachman-Diamond syndrome (SDS) is a rare congenital disorder featuring exocrine pancreatic insufficiency, growth retardation, and bone marrow dysfunction. Reports suggest that nearly 25% of all cases are complicated with leukemia. Although stem cell transplantation is the sole option for these patients, successful results are rarely obtained. Poor outcomes are often related to graft failure and cardiac and other organ toxicitics. We describe in this report successful unrelated donor bone marrow transplantation for a patient with SDS who progressed to acute myelogenous leukemia. The patient received attenuated intensified chemotherapy because of his intolerance to ordinary chemotherapy and went into remission. Sustained unrelated donor bone marrow engraftment was accomplished after treatment with a reduced amount of cyclophosphamide and antithymocyte globulin with 12 Gy of total body irradiation as a conditioning regimen. To the best of our knowledge, this report is the first to describe unrelated donor bone marrow transplantation with complete engraftment for an SDS patient with myelogenous leukemia.

Severe bleeding tendency in a patient with Bernard-Soulier syndrome associated with a homozygous single base pair deletion in the gene coding for the human platelet glycoprotein Ibα

Purpose The genetic basis of Bernard-Soulier syndrome (BSS) was studied to clarify a relationship between severe clinical manifestations and gene abnormality. Patient and Methods A patient with BSS had a severe bleeding tendency that was sometimes life threatening. Flow cytometric analysis of the patients and normal control platelets was performed to study which glycoprotein (GP) was impaired in glycoprotein Ib/V/IX complex. The genes encoding GPIbα from the patients and control genomic DNA were amplified and directly sequenced. Results Flow cytometric analysis revealed a defect of GPIbα on the surface of the patients platelets. A homozygous single base pair deletion was identified in seven repeats of adenine at positions 1932 to 1938 in the GPIbα gene. This mutation, which has been previously reported, results in a frameshift and predicts a premature stop codon leading to a truncated peptide that cannot fix on the platelet membrane. Conclusion This patients severe clinical phenotype would be explained by this mutation in the GPIbα gene.

Chromosomal aberration in lipoblastoma: A case with 46,XX,ins(8;6)(q11.2;q13q27)

Chromosomal aberrations involving 8q11.2 have been reported in lipoblastoma. We report here a case of lipoblastoma with new chromosomal aberration. 46,XX,ins(8;6)(q11.2;q13q27). Cytogenetic analysis would facilitate the clinical differentiation between myxoid liposarcoma and the pathologically similar lipoblastoma and the identification of genetic loci related to cellular growth.

CD48 expression on leukocytes in infectious diseases: Flow cytometric analysis of surface antigen

Background: The function of CD48, one of the pan leukocyte cell surface antigens, is not yet well understood. CD48 was recently shown to enhance the CD40‐mediated activating signal to B lymphocytes. As CD48 is one of the activation antigens of monocytes, neutrophils and lymphocytes, a change of its expression on the cells could be expected in infectious diseases.

Intermittent jaundice in patients with acute leukaemia : A common mutation of the bilirubin uridine-diphosphate glucuronosyltransferase gene among asians

The Gly71Arg mutation of the hepatic bilirubin UDP glucuronosyltransferase (B-UGT) gene associated with Gilbert syndrome prevails among Japanese and its gene frequency is 0.13. Among 20 patients with acute leukaemia, 4 patients showed intermittent unconjugated hyperbilirubinaemia during the course of combined chemotherapy. The Gly71Arg mutation was detected in all 4 patients with hyperbilirubinaemia, but was not found in 16 patients without hyperbilirubinaemia. Two of them were heterozygotes and one was a homozygote for the Gly71Arg mutation, and the other was a compound heterozygote of the Gly71Arg mutation and TA insertion mutation in the TATA box of the B-UGT gene. In addition to the complications leading to hyperbilirubinaemia, including liver damage due to drugs, viral infections or tumour cell infiltrations and alloimmune haemolysis, carrier status for the Gly71Arg mutation should be considered in a patient with leukaemia showing intermittent hyperbilirubinaemia during the course of chemotherapy, especially among Japanese, Koreans and Chinese owing to its prevalence in those populations.

Scleroedema in a Child

A 3‐year‐old Japanese girl with scleroedema was reported. She had had no signs of diabetes but did have a preceding bacterial infection in the tonsils three weeks before the skin lesion appeared. The skin on the face, shoulders, extensor aspect of the upper arms, and proximal half of the forearms was indurated. The skin lesions expanded from the middle part of the forearms to the wrists during the observation period. Thereafter, the induration gradually disappeared. A literature review revealed there were only six reports of scleroedema in children under 15 years old before 1996 in Japan; a total of 166 cases of the disease was reported in the same period. Five out of these six cases were not diabetes‐associated. All but one of these six patients were female. Juvenile scleroedema seems to be rare in Japan.