Hirschsprung's disease: problems with transition-zone pull-through.

BACKGROUND/PURPOSE: It is generally accepted that if surgery for Hirschsprung's disease is to be successful, ganglionic bowel must be anastomosed to the lower rectum or anal canal. Above the aganglionic distal bowel lies a transition zone (TZ) where more subtle abnormalities of innervation are apparent. The significance of this transition zone in respect to the functional outcome of surgery has received little attention. The aim of this study was to identify the incidence of transition zone pull-through (TZPT) in a cohort of children who underwent surgery for Hirschsprung's disease, to identify the reasons why TZPTs occurred, and to identify the functional consequences. The authors report the long-term outcome of these children with emphasis on bowel function and the results of subsequent surgery. METHODS: A Retrospective study was conducted of children treated at a single institution from 1979 through 1994. TZPT patients were subject to detailed review of surgical records and histopathologic material. RESULTS: Thirteen children were identified with a TZPT. In 12 cases, histopathologic errors contributed to the TZPT: in 5 cases this was caused by single point biopsies missing an asymmetrical TZ, whereas in 7 cases the histopathologic features of the TZ were not recognized. In 1 case the TZPT was caused by surgical error. As a consequence of the TZPT 7 children underwent repeat pull-through. One child is fully continent, one has daytime fecal continence, and 2 others are incontinent. Two children have permanent stomas. One child is clean with antegrade colonic washouts. Repeat pull-throughs were not attempted in 6 children. Two children have achieved full continence, 2 have permanent stomas, 1 is clean with antegrade colonic washouts, and 1 child receives regular suppositories. CONCLUSIONS: Transition zone pull-throughs occurred because of a combination of surgical and histopathologic errors. The transition zone may follow an asymmetric course around the circumference of the bowel and may be missed if single-point extramucosal biopsy specimens are taken. Recognition of the subtle histologic features of the transition zone requires an experienced pathologist. The functional consequences of a TZPT are severe, with symptoms of constipation, diarrhea, and incontinence. The results of revisional pull-through were disappointing. Serious consideration should be given to alternative procedures such as the antegrade continence enema operation.

Gastroduodenal ulcers in the Helicobacter pylori era.

The aim of the study was to evaluate the current spectrum of gastroduodenal ulcers in children referred to a regional paediatric unit in the United Kingdom. During a 5-y period (1994-98), all children with a visibly discrete gastric and/or duodenal ulcer diagnosed at endoscopy were prospectively identified. Patients with ulcers associated with Helicobacter pylori gastritis underwent repeat endoscopy 2-3 mo after medical treatment. Thirty-seven children, 21 boys and 16 girls of median age 11 y (range 7 mo to 16 y), had gastric and/or duodenal ulceration. Specific aetiological factors were identified in 21 of 22 with H. pylori negative ulcers, including Crohn's disease (n = 6), coeliac disease (n = 4) and treatment with ulcerogenic drugs (n = 4). Fifteen children (41%) had ulcers associated with H. pylori gastritis, including all 10 children with a chronic ulcer. Endoscopically confirmed ulcer healing was achieved in 14 of these using a 1 wk triple therapy regimen (omeprazole and a combination of two antibiotics). In conclusion, the recognized spectrum and the management of gastroduodenal ulceration have changed during the last decade. Although H. pylori gastritis is an important aetiological factor, a wide range of other conditions needs to be considered. Surgical intervention is only rarely necessary.

Confirmation of FWT1 as a Wilms' tumour susceptibility gene and phenotypic characteristics of Wilms' tumour attributable to FWT1.

A susceptibility gene for Wilms' tumour (WT), designated FWT1, was previously mapped to chromosome 17q12-q21 by linkage analysis of a single family. We now confirm the existence of this gene by analysis of additional cases in the original family (3-point LOD score=5.69), and by detecting strong evidence of linkage to this region in an unrelated pedigree with seven cases of WT (3-point LOD score=2.56). Analysis of 11 smaller WT families confirms that there is genetic heterogeneity in familial WT, as three families exhibit strong evidence against linkage to FWT1. One of these was subsequently found to have a predisposing WT1 mutation. However, the other two families show evidence against both FWT1 and WT1, suggesting that at least one further familial WT gene exists. Analysis of the phenotype of 16 WT cases from the families linked to FWT1 demonstrates that they present at a significantly older age and a significantly later stage than both sporadic WT and the six cases from two families unlinked to either FWT1 or WT1. The results confirm the role of FWT1 in susceptibility to WT, provide strong evidence for genetic heterogeneity in familial WT and suggest there are phenotypic differences between familial WT due to FWT1, familial WT due to other genes and non-familial WT.

Rectal biopsy for Hirschsprung's disease: what is the optimum method?

During a 3-year period, 258 infants and children underwent rectal biopsy to exclude Hirschsprung's disease (HD) and related disorders; 32 (12%) were found to have HD. Major morbidity occurred in 3 (2%) of 148 patients undergoing rectal suction biopsy (RSB) and 22 (13%) of 168 suction biopsies were inadequate for diagnosis. In 102 children over 6 months of age, Storz rectal cup biopsy forceps were used with no significant morbidity and adequate biopsies were obtained in 96% of cases. Open rectal biopsy was performed in 8 patients. The RSB tube is safe and reliable, but attention to technique is important. For children over 6 months of age undergoing rectal biopsy for HD, the Storz rectal cup biopsy forceps yields superior results.

Focal nodular hyperplasia of the liver in childhood.

We report two cases of focal nodular hyperplasia of the liver in childhood. Operative resection has resulted in complete relief of symptoms, with no evidence of recurrence on follow-up. We suggest that asymptomatic patients may be managed conservatively following appropriate radiological imaging and needle biopsy to exclude a malignant lesion. Surgical intervention is indicated in cases of diagnostic difficulty and for relief of symptoms.

Cytogenetic abnormalities in mesoblastic nephroma: a link to Wilms' tumour?

Cytogenetic analysis of tumour material from a congenital mesoblastic nephroma is reported. Two cell lines were found, one with a normal 46,XY karyotype and the other with a hyperdiploid 51,XY karyotype, including a rearrangement of chromosome 11 at 11p15. This finding is of interest since loss of allelic heterozygosity at polymorphic 11p15 loci has been described in sporadic Wilms' tumour [1], and both cytogenetic [2] and molecular [3] changes of 11p15 are found in the Wiedemann-Beckwith syndrome, a condition with a predisposition to embryonal tumours, particularly Wilms' tumour. Our results lead us to speculate on the implications relating to the pathogenesis of this relatively benign tumour variant with respect to the current understanding of the genetics of Wilms' tumour.

12q13 abnormality in rhabdomyosarcoma. A nonrandom occurrence?

We describe two cases of rhabdomyosarcoma with a translocation involving 12q13 as the primary cytogenetic abnormality. Literature review of 35 cases has identified 3 other cases with this abnormality, and we speculate that this may be another nonrandom rearrangement in rhabdomyosarcoma.

Partial placenta membranacea.

Seven pregnancies complicated by partial placenta membranacea occurring over a 2-year period are described. The condition is encountered more frequently than the total or near-total form, but is similarly associated with recurrent antepartum haemorrhage, miscarriage or preterm delivery. Diagnosis by ultrasound scan may prove difficult. Five pregnancies had histological evidence of chorioamnionitis, which may have helped to precipitate labour; three fetuses showed pulmonary inflammatory changes of at least 2 days' duration. No maternal predisposing factors could be elicited.

Malignant fibrous histiocytoma in the abdominal soft tissues of a child: a case report.

An 18-month-old female presented with an abdominal tumor mass which on morphological, immunohistological and ultrastructural examination was found to be a malignant fibrous histiocytoma. This soft tissue sarcoma is rarely encountered in childhood. Treatment in this case consisted of surgical tumor debulking with pre- and post-operative chemotherapy. The child is well and free of detectable tumor at 23 months after diagnosis.

Proliferative fascitis in childhood: a case report.

A case of proliferative fascitis in the forearm of a 7-year-old child is presented. The lesion is composed of spindle cells and large bizarre ganglionlike cells in a collagenous matrix with some myxoid areas. The cells contain intracytoplasmic inclusions of collagen. The cytoplasm stains for vimentin, and the cells have ultrastructural features of myofibroblasts. This is the second case reported of proliferative fasciitis occurring in a child, and the importance of distinguishing this lesion from childhood neoplasms with a similar appearance is discussed.

Development of the cerebellum with particular reference to cellular differentiation in the external granular layer.

Immunocytochemical evidence of differentiation in developing human cerebellum is presented in this study. Antibodies to neuron specific enolase, neurofilament protein, glial fibrillary acidic protein, vimentin, cytokeratin, epithelial membrane antigen and lymphoid markers, DLC and Leu 7 were used. The external granular layer showed positivity with neuronal markers between 27 weeks gestation and 4 months postnatal, but was negative for all other markers including glial fibrillary acidic protein. Characteristic staining reactions were noted in the other cerebellar layers. Monoclonal antibodies, UJ13A (pan-neuroectodermal marker) and G10 (localising microtubule-associated protein MAP1x) were also used in a limited number of cryostat sections and were positive and negative, respectively, in the external granular layer. The results of this study are discussed in relation to the theory that the external granular layer may be one source of medulloblastomas.

Disposal arrangements for fetuses lost in the second trimester.

In 1986, 28 consultant pathologists with a special paediatric or perinatal interest in the UK and Irish Republic supplied information on current disposal methods for fetuses lost in the second trimester (12-28 weeks gestation) and the facilities available to parents. In over half the hospitals surveyed no single method of disposal was employed, but most of the fetuses were incinerated. In six hospitals all fetuses were either buried or cremated; 25 hospitals had facilities for photography and 24 made special religious services available. Other facilities available in some centres included the provision of blessing cards and a 'remembrance book' and the appointment of a bereavement counsellor. In five of the local crematoria or cemeteries a special plot of land was reserved for stillbirths and younger fetuses. The relative costs of these facilities are discussed.

Interstitial deletion of chromosome 4q diagnosed prenatally.

The prenatal diagnosis of 4q deletion was made as a result of amniocentesis for high serum alphafetoprotein.

Placental and fetal pathology in Coxsackie virus A9 infection: a case report.

A 27-year-old patient contracted a Coxsackie virus A9 meningitis at 33 weeks gestational age. Two weeks later a macerated female stillborn infant was delivered. The placenta showed a diffuse perivillous fibrin deposition with villous necrosis and inflammatory cell infiltration and yielded Coxsackie virus A9 on culture. Post-mortem examination of the fetus showed only minimal inflammatory changes in the cardiac connective tissue and the subarachnoid space.

An unusual brainstem capillary telangiectasis in a child.

This case report concerns a brainstem telangiectasis that mimicked a tumor causing progressive neurologic symptoms over a period of 6 years prior to death. Intravascular coagulation within the malformation leading to localized ischemia is proposed as the mechanism for the apparent growth of the lesion.

Fetomaternal blood group incompatibility studies in placental intervillous thrombosis.

Samples of maternal and fetal blood from 32 cases of placental intervillous thrombosis have been analysed for blood group incompatibility and compared to a control group of 21 cases. No overall link has been demonstrated between intervillous thrombosis and ABO incompatibility. Red cell antibody reactions of all types probably account for only a small proportion of thrombi and it is suggested that the principle mechanism may be a thromboplastin release from the damaged vasculo-syncytial membrane, causing a coagulation of the mixed maternal and fetal cells.