Histology of the upper pole in complete urinary duplication--does it affect surgical management?

OBJECTIVE: To review the histological change in the upper pole of excised duplex kidneys and assess whether ante-natal diagnosis might predispose to more conservative surgical management of this abnormality. PATIENTS AND METHODS: Fifty consecutive patients undergoing upper pole hemi-nephroureterectomy for ectopic ureter or ectopic ureterocele between 1980 and 1992 had their histology reviewed and assessed for dysplastic, inflammatory and obstructive change. RESULTS: Segmental scarring and chronic and acute inflammatory change occurred consistently and the degree of inflammation seemed unaffected by antenatal diagnosis. Dysplasia was seen in 70% of patients with ureterocele and in only 30% of those with ectopic ureter. One patient had normal histology. CONCLUSION: There was no evidence of reversible histological change in patients with ectopic ureter and ectopic ureterocele who were diagnosed ante-natally. Preservation of the upper pole of the kidney does not seem justified in the light of the histological evidence.

Childhood steroid-sensitive nephrotic syndrome: does the histology matter?

Renal biopsy specimens from 51 children with steroid-sensitive nephrotic syndrome who were following a frequently relapsing or steroid-dependent course were reviewed by two histopathologists. In all cases the biopsy was performed prior to the commencement of an 8-week course of cyclophosphamide. The clinical courses of these patients both prebiopsy and for a minimum of 2 years after completion of cyclophosphamide therapy were analyzed using retrospective case note analyses. The distribution of histologic diagnoses differed significantly from that reported by the International Study of Kidney Disease in Children in their study of children who underwent biopsy at the time of presentation, there being an excess of focal segmental glomerulosclerosis and mild mesangial hypercellularity in this series. The prebiopsy clinical course did not predict for histologic diagnosis, and there was no correlation between prebiopsy course or histology and postcyclophosphamide course. The findings of this study support the clinical impression that steroid sensitivity rather than histology is the major determinant of prognosis in childhood nephrotic syndrome and that frequency of relapse alone is not an indication for biopsy.

Autologous gastro-intestinal reconstruction: the composite ileo-colic loop.

A reproducible technique was developed experimentally in pigs for construction of a 'composite bowel tube' (CBT) made up of ileal mucosa that was grafted to a mucosally denuded colonic muscle surface vascularised by the colonic mesentery. Macroscopic and microscopic studies at terminal laparotomy revealed a viable, mucosally lined, patent peristaltic loop of bowel in six of the eight animals. Two animals died after sloughing the grafted mucosa. In vivo absorption studies, using l-alanine as an index of amino acid absorption, showed a transport pattern through the grafted mucosa of the composite ileo-colic loop appropriate to ileum when compared with controls. The CBT constitutes another autologous gastro-intestinal reconstructive technique for redistribution of available absorptive mucosa over a longer intestinal length, and may therefore be of benefit in the management of the short-bowel syndrome.

Simultaneous choriocarcinoma in mother and newborn infant.

A male infant, born following an uncomplicated pregnancy, was severely anaemic at birth following significant foeto-maternal haemorrhage. At three weeks of age a tumour was found in the liver with evidence of metastatic disease in the lungs. The infant died before treatment could be started. Postmortem revealed choriocarcinoma which led to subsequent diagnosis in the mother who also had pulmonary metastases. The mother has been successfully treated. The case is described in detail and followed by a discussion and a literature review of reported cases of simultaneous choriocarcinoma in infant and mother.

Oligohydramnios sequence: the spectrum of renal malformations.

OBJECTIVE: To assess the value of the autopsy findings on a series of infants dying with features of the oligohydramnios sequence, with particular reference to anomalies of the renal tract. DESIGN: Retrospective review. SETTING: Pathology departments serving three maternity units in Manchester. SUBJECTS: Eighty-nine infants having an autopsy examination between 1976 and 1990. RESULTS: Thirty-two (34%) infants had bilateral renal agenesis, 30 (34%) had bilateral cystic dysplasia, eight (9%) had unilateral agenesis with unilateral cystic dysplasia, four (4%) had renal histology characteristic of a recessively inherited disorder (two cases of renal tubular dysgenesis and two cases of autosomal recessive (infantile) polycystic disease), nine (10%) had minor urinary tract anomalies, and three (3%) had morphologically normal renal tracts. Forty-eight (54%) infants had congenital abnormalities other than those resulting from oligohydramnios sequence; most commonly, these were anomalies of the sporadic VATER association, but in four infants the extra renal anomalies present allowed recognition of a recessively inherited syndrome (Meckel's in three cases, Smith-Lemli-Opitz in one). CONCLUSIONS: A detailed autopsy is vital in assessment of infants with oligohydramnios sequence resulting from a congenital abnormality of the kidneys or urinary tract. This applies equally to second trimester fetuses following miscarriage or therapeutic abortion, to stillborn infants, or to neonatal deaths.

Choristoma of the submandibular gland: a rare cause of cervical swelling.

A case of choristoma of the submandibular gland excised from a 4-week-old female infant is reported. The differential diagnosis is discussed and suggestions are made for the possible etiology of the lesion.

Pseudo-Gaucher cells.

A case of acute lymphoblastic leukaemia, associated with cells resembling Gaucher cells in the bone marrow, is reported. The patient had no evidence of inherited Gaucher's disease and the ultrastructural appearance of the cells was consistent with pseudo-Gaucher cells described in other haematological diseases. This is the first report of these cells in association with acute lymphoblastic leukaemia.

Inflammatory pseudotumor of the liver masquerading as a metastasis in a child treated for nephroblastoma.

A 3 1/2-year-old boy presented with a palpable hepatic tumor thought on clinical and radiological grounds to be a metastasis but which was found to be an inflammatory pseudotumor on histological examination. Eighteen months previously he had received chemotherapy and radiotherapy for a stage IV Wilms' tumor, which had been surgically excised 4 months after commencing treatment. This case illustrates the importance of obtaining a histological diagnosis in the management of patients with malignant tumors.

Male fertility in long-term survivors of childhood acute lymphoblastic leukaemia.

To study long-term testicular function following the treatment of acute lymphoblastic leukaemia (ALL) in childhood, 37 young adult males were assessed at two separate time points. The initial assessment was made by a wedge testicular biopsy after completion of treatment (median 9.7 years; range 4.1-16.3 years) and the subsequent assessment (median 18.6 years; range 15.4-26.8 years) consisted of the clinical examination of pubertal stage, measurement of serum gonadotrophins and testosterone and, in 19 patients, semen analysis. All 37 men completed pubertal development normally and had a testosterone concentration within the normal adult range. Six men showed evidence of severe damage to the seminiferous epithelium, five were azoospermic and one, who did not provide semen for analysis, had a reduced mean testicular volume (11 mls; normal greater than or equal to 15 mls) and a raised basal FSH level (13 UI 1-1; normal less than or equal to 6 IU 1-1). All six men with germ-cell damage had received either cyclophosphamide or both cyclophosphamide and cytosine arabinoside as part of their chemotherapy regimen. Approximately 10.7 years earlier all 37 men had undergone a testicular biopsy after completion of their chemotherapy. Morphological damage to the seminiferous epithelium had been calculated by estimating the tubular fertility index (TFI), which is the percentage of seminiferous tubules containing identifiable spermatogonia (age-matched normal = 100%).(ABSTRACT TRUNCATED AT 250 WORDS)

Ultrastructure of the human placenta in metabolic storage disease.

Eleven placentae and one fibroblast cell culture from pregnancies complicated by various inherited metabolic disorders, together with five chorionic villus biopsies from pregnancies at risk, were examined for ultrastructural evidence of accumulation of metabolites. Abnormal ultrastructural features were present as early as 10 weeks gestation. Myelin bodies were found in all placental cell types in a case of Niemann-Pick disorder and stromal cells showed marked vacuolation in Hurler's disease. Membranous arrays were occasionally identified in the lysosomes of stromal cells in a case of Sandhoff's disease, together with some myelin body formation in the trophoblast and endothelium. In Pompe's disease, intralysosomal accumulations of glycogen were present in all cell types except syncytiotrophoblast, while in sialic acid storage disorder all placental cells were affected except for the cytotrophoblast. Collagen fibre disorientation and excess associated proteoglycan was seen in a formalin-fixed placenta with Sanfilippo mucopolysaccharidosis, and syncytial vacuolation, caused possibly by delays in fixation, was evident in many specimens. The specimens were collected from different centres and the fixation procedure varied significantly. The most satisfactory results were obtained from chorionic villus sampling in vivo and from pregnancies terminated using aspiration followed by immediate fixation. The importance of liaison with clinicians is stressed in order to obtain optimal preservation of the tissue. This is particularly vital in immature specimens of placenta where abnormal storage product material may not have had time to accumulate.

Mesenteric fibromatosis presenting with ascites in childhood.

A 7-year-old boy presented with acute ascites due to mesenteric fibromatosis. The pathophysiological mechanisms for formation of ascitic fluid and some aspects of the aetiology of intra-abdominal fibromatosis and its association with Gardener's syndrome are discussed.

Cutaneous presentation of sarcoidosis in an infant.

A 4-month-old infant developed a symptomless erythematous maculopapular rash on her abdomen spreading to involve other areas of her trunk and limbs. Skin biopsy showed the features of sarcoidosis and she later developed sarcoid uveitis and arthritis requiring systemic steroid therapy.

Increased concentration of aluminium in the brain of a parenterally fed preterm infant.

Parenteral feeding solutions currently used for preterm infants are contaminated with aluminium. We report the case of an infant who was fed parenterally for 45 days, who died aged 3 months, and who had a considerably increased concentration of aluminium in his brain tissue at necropsy.

Haemolytic uraemic syndrome and the Thomsen Friedenreich antigen.

In three children with haemolytic uraemic syndrome (HUS), evidence of red cell polyagglutinability due to Thomsen Friedenreich antigen (T-antigen) exposure was demonstrated. This was suspected after difficulties in ABO typing and was confirmed using specific antisera. Further supportive evidence included elevation of plasma sialic acid, alteration in red cell surface charge and evidence of T-antigen exposure in the renal biopsy specimen of one patient. Although involvement of this antigen in the pathogenesis of HUS has been associated with a high mortality, all three children have made a complete recovery. With early recognition and subsequent avoidance of plasma products, prognosis of this condition may be improved.

Vertebro-basilar thrombosis and involuntary movements.

There are a number of causes of thrombosis in the vertebro-basilar system, and among these are trauma and abnormal movements. This is particularly likely to occur if there are anomalies or abnormalities of the spine or arteries. A case is reported which suggests that involuntary movements should be included in the possible aetiologies.

Long term prognosis of recurrent haematuria.

A long term follow up study of 100 children referred with recurrent haematuria for at least one year to two regional paediatric nephrology units is described. The mean duration of follow up was 8.2 years. An adequate renal biopsy was obtained in 96 and eight cases of Alport's syndrome and 10 of IgA nephropathy were diagnosed (20% and 26% respectively of the biopsies examined by electron microscopy and immunofluorescence). Five patients developed end stage renal failure and six hypertension requiring treatment, with the occurrence of these complications increasing progressively with increasing duration of follow up (1% at five years compared with 12% at 10 years). Adverse prognostic features were persistence of microscopic haematuria, proteinuria at presentation, and appreciable changes on renal biopsy. Eighty four patients had first degree relatives tested for haematuria; 30% of these families had another affected member. With long term follow up recurrent haematuria is associated with considerable morbidity and potential mortality.

Testicular invasion and relapse and meningeal involvement in a rat T-cell leukaemia.

During the haematogenous dissemination of this acute rat T-cell (Roser) leukaemia, infiltration of both epididymal and testicular interstitial tissue has now been demonstrated, probably as an invariable occurrence. The gonadal duct system itself was not invaded. In contrast to an earlier histopathological study with this leukaemia, meningeal invasion has also been encountered during routine passage. Furthermore, subsequent to remissions induced by carmustine (BCNU), relapse could occur as long as 80 days after the 20 day end point in control animals. This was associated with extensive infiltration of the meninges as well as in the male gonadal interstitium, the proximal epididymis being particularly vulnerable. Two doses of carmustine at intervals of one week could eradicate the disease even during the phase of logarithmic growth of the leukaemic cells, this result depending upon the level of treatment and time of dosing post-inoculation with leukaemic cells. Females carrying the disease were shown to be more readily cured than males, probably related to entry of leukaemia cells into the gonadal interstitium. This T-cell leukaemia appears to be an excellent model for the study and prospective chemotherapy of testicular relapse in acute lymphoblastic leukaemia.