Toshiji Nishi

Analysis of 1,992 patients with anorectal malformations over the past two decades in Japan

BACKGROUND/PURPOSE This report describes the results of a group study of the Japanese Study Group of Anorectal Anomolies (JSGA) to determine the relative incidence of specific types of anorectal anomaly in Japan, and includes discussion of rectourethral fistula regarding the relationship between the levels of the fistula and blind end of the rectum, low type deformity, rare types, and associated anomalies. METHODS A total of 1,992 patients (1,183 boys and 809 girls) registered from 1976 to 1995 were analyzed. RESULTS High-type deformities accounted for 26.0% of cases, intermediate 10.7%, low 57.2%, miscellaneous 4.5% and unclassified 1.8%. The most frequent deformity was male anocutaneous fistula (n = 364), followed by male rectourethral fistula (n = 333), and female anovestibular fistula (n = 241). There were 42 rectovesical fistulas in boys and 93 rectocloacal fistulas in girls. Covered anus complete occurred at the same frequency (10.1% of low deformities) as covered anal stenosis. In rectourethral fistula, the blind end of the rectum lay at or above the level of the P-C line in 40.3% of cases, at or above the M line in 39.6% and at the vicinity of the I line in 20.2%, respectively. There was no parallel relationship between the site of the fistula opening and the level of the rectal pouch. The overall incidence of patients having one or more associated anomalies was 45.2%: 70.6% in high deformity, 60.7% in intermediate, and 31.3% in low. The rate of association of Downs syndrome with deformities without fistula (40.3%) was significantly higher than with deformities with fistula (0.3%). CONCLUSIONS Rectovesical fistula and covered anus complete were not infrequent deformities in this series. We consider that at least 20% of rectourethral fistula should be categorized as intermediate or low deformity from the viewpoint of the position of the rectal pouch. A significant preponderance of Downs syndrome in the deformities without fistula suggests that further investigation of associated anomalies in comparision with other congenital diseases may provide insights into the pathogenesis of anorectal malformation in the field of molecular genetics.

Natural Course of Neuroblastoma Detected by Mass Screening: A 5-Year Prospective Study at a Single Institution

PURPOSE To describe various favorable courses of neuroblastoma (NBL) detected by mass screening and to present our observation program as a temporary treatment option, to be used until a final decision is made regarding the mass screening program for 6-month-old infants. PATIENTS AND METHODS Between October 1993 and November 1999, 26 of 51 patients with NBL detected by mass screening were enrolled in our observation program. The criteria for observation included urinary vanillylmandelic acid (VMA) and homovanillic acid (HVA) levels less than 50 microg/mg creatinine, smaller tumor size (< 5.0 cm), preoperative status, and granted informed consent. Patients were divided into four groups according to changes in urinary VMA and HVA values and tumor size. Patients who no longer fulfilled criteria underwent surgery. RESULTS The observation period ranged from 4 to 73 months. Urinary VMA and HVA levels decreased in 19 of 26 patients, often by age 16 months. Eighteen patients had regressing tumors, and in 10 of these cases, the tumor was undetectable or barely detectable by imaging techniques. Four patients younger than 12 months had increased tumor marker levels and tumor volume, histologically reflecting neuroblastic proliferation. The remaining three patients, all older than 18 months, had varied tumor marker levels but increased tumor volume, histologically reflecting an increase in Schwann cells. No upgrading of tumor stage or unfavorable biologic factor was noted in any patient. CONCLUSION None of our patients showed evidence of transition from favorable to unfavorable prognosis, a finding that points to a reduction in the significance of screening as a public health measure. Until results of ongoing screening trials involving older patients have been evaluated, the observation program can be used as a temporary measure to avoid, with little risk, unnecessary surgical intervention.

Evaluation of the PELD risk score as a severity index of biliary atresia.

PURPOSE The authors evaluated the validity of the Pediatric End-Stage Liver Disease (PELD) Risk Scoring System as a severity index for patients with biliary atresia. METHODS Individual hospital records of 104 patients with biliary atresia were reviewed at our institution and divided into 3 groups: nontransplant survivors (n = 61), nontransplant deaths (n = 17), and transplant patients (n = 26). PELD risk scores were calculated according to Wiesner et al, multiplied by 10, and rounded to the nearest integer, as is done in determining model of end-stage liver disease (MELD) scores. RESULTS The PELD scores showed a significant difference between nontransplant survivors (range, -21 to 15) and dying nontransplant patients during their last few months of life (range, 2 to 40). No survivors except those below the age of one year recorded scores above 10. Transplant patients had higher scores (range, -5 to 37) before transplantation than nontransplant survivors. However, the scores were not elevated in elderly patients with intractable cholangitis, fulminant variceal rupture, and hepatopulmonary syndrome. CONCLUSIONS PELD profiling is a useful scoring system for selecting patients with the most severe liver dysfunction caused by biliary atresia. However, we advise caution in using this system for patients under the age of 1 year and for older patients with long-term complications.

Anorectal anomalies associated with Kabuki make-up syndrome

A case report of a 3-year-old girl with Kabuki make-up syndrome (KMS) associated with anovestibular fistula is presented. To our knowledge, 62 patients with KMS have been reported in the literature, three of whom were described as having an anorectal anomaly. Including the present patient, all four KMS patients were females with anovestibular fistula.

Prenatal diagnosis and treatment strategy for congenital mesoblastic nephroma

By means of the recent sophisticated technology regarding prenatal diagnosis, congenital mesoblastic nephroma (CMN) has become detectable before birth, or at a younger age than previously. Recently we treated an infant with a huge CMN in whom fetal asphyxia and tumor rupture occurred during the perinatal observation period after prenatal detection. Emergency surgery was required, and the postoperative course was complicated. The treatment strategy of the perinatal care team should focus on (1) reliable maternal transportation (2) continuous monitoring of fetal condition including cardiovascular status, (3) control of polyhydramnios to avoid premature labor, and (4) elective surgery at a stable or stabilized condition. Emergency surgery should be performed when circulatory disturbance, respiratory distress, and/or impending rupture are suspected.

Angiocentric immunoproliferative lesion associated with chronic active Epstein-Barr virus infection in an 11-year-old boy: clonotopic proliferation of Epstein-Barr virus-bearing CD4+ T lymphocytes

We report a pulmonary angiocentric immunoproliferative lesion (AIL) in an 11-year-old boy with chronic active Epstein-Barr virus (EBV) infection. The phenotypes of the proliferating lymphoid cells in the biopsied pulmonary lesion were CD2+, CD3+, CD4+, CD5+, CD7+, and HLA-DR+. EBV DNA was detected in the tumorous and the nontumorous tissue by Southern-blotting studies. Dual immunostains and combined immunohistochemistry/in situ hybridization showed the simultaneous presence of EBV-determined nuclear antigen or EBV-encoded small RNAs and T-cell markers in the lymphoid cells. Molecular genetic analysis of the tumorous lesion diagnosed as AIL grade III showed no clonal rearrangement of the T-cell receptor beta gene but a single type of fused terminal band of EBV. No such evidence of monoclonality was identified in the surrounding nontumorous tissue diagnosed as AIL grade I or II. The present case was a rare example of AIL in childhood and provides further histopathologic and molecular biological evidence supporting the concept of AIL as a continuous spectrum from premalignant lymphoproliferative disorders to monoclonal, overt malignant lymphoma.

Ossifying Fibromyxoid Tumor of Soft Parts in a Child: A Case Report

Ossifying fibromyxoid tumor (OFMT) is a relatively rare tumor, most of which occur in adults with preferential localization in subcutis or muscles of the extremeties. Although Schwannian or cartilage origin has been suggested, histogenesis of this tumor still is unclear. The authors present a 6-year-old girl with retroperitoneal OFMT showing paraspinal extension, who is alive and tumor free 9 years after excision. The current case is the youngest reported patient showing unusual deep trunk site with surgically identified association with the spinal nerve. Both the clinical and histopathologic features strongly suggested Schwannian origin of this tumor.

Clinicopathological study of a hilar nodule in the livers of long-term survivors with biliary atresia.

With the application of liver transplantation for patients with biliary atresia (BA), we have had the opportunity to review the clinicopathologic features of the native livers from 10 transplanted BA patients. A single large nodule at porta hepatis (hilar nodule) was noted in three of 10 patients, and an ill‐defined nodule‐like lesion at porta hepatis was present in two other patients. The three BA patients with hilar nodules were long‐term survivors, compared to the patients with nodule‐like and those without nodules. The hilar nodules measured between 5.0 cm and 8.0 cm and histologically, they were partly surrounded by fibrous septa with relatively well‐preserved liver architectures and fewer inflammatory cells at the portal triads when compared to the surrounding cirrhotic lesions. No nuclear or cellular atypia was observed. Proliferating cell nuclear antigen labeling index was higher in the surrounding cirrhotic lesions than the hilar nodules. The nodule‐like lesions at porta hepatis also showed similar light microscopic and immunohistochemical features as the hilar nodules. These hilar nodules did not seem to contain any malignant potential. The benign histology with relatively well‐preserved liver architecture and the preferential site of occurrence at porta hepatis where bile seemed to flow more smoothly, suggested possible residues of less‐affected hepatic tissues.

Surgical treatment of reflux stricture of the esophagus

Ten children, aged 7 months to 15 years, with peptic esophageal stricture, were treated surgically. In four of the children, the stricture had occurred after esophageal anastomosis. Peptic stricture was diagnosed by esophagography, pH monitoring, manometry, and esophagoscopy. Barretts esophagus was found in two children. Nine children underwent transabdominal Nissen fundoplication initially. In the first child of this series, a tight anastomotic stricture had been excised 2 weeks before fundoplication. Seven children became complaint-free within 2 or 3 months after fundoplication without any dilatation, and two children with anastomotic stricture improved after 1 or 2 postoperative dilatations. The condition of one boy, with a 6-year history of tight stricture, did not improve with repeat Nissen and subsequent dilatations. Histological examination showed proliferation of smooth muscle cells in the submucosa. A conservative surgical approach is effective for the management of peptic esophageal stricture in children, and direct surgical intervention for stricture should be attempted only in cases of stricture resistant to antireflux surgery with a long history of reflux.

Pericardial hemangioma presenting fetal cardiac tamponade and postnatal bronchostenosis

A case of pericardial hemangioma is described which was resected in the neonatal period due to its effect on the cardiopulmonary system. Preoperative differential diagnosis of a teratoma was difficult. Surgical extirpation resulted in massive bleeding and postoperative bronchomalacia. These complications suggest that we should choose a conservative therapy as often as possible.