Megacystis-microcolon-intestinal hypoperistalsis syndrome (MMIHS) in siblings: case report and review of the literature.

PURPOSE: Report of MMIHS in siblings with emphasis on diagnostic aspects in antenatal scanning and genetics. METHOD: Two case reports and review of the literature RESULTS: The firstborn child of this family was a female infant with a postnatal diagnosis of MMIHS. In the consecutive pregnancy frequent antenatal scans were performed, which showed normal fetal anatomy until 19 weeks' gestation. The pregnancy was carried on and at 36 weeks' gestation dilatation of the renal collecting system and dilated loops of bowel were seen, suggestive of MMIHS. CONCLUSION: Prenatal diagnosis of MMIHS remains difficult. Further research into the genetics of this condition is necessary and would be an important tool in counselling parents with an affected child in view of the chances having an affected child at subsequent pregnancies. A multi-centre collection of a genetic pool from parents may be helpful for future research.

Long-term dilatation of caustic strictures of the oesophagus.

Caustic strictures of the oesophagus (CSO) in children are managed in different ways. Our study looks into the results of long-term dilatation of such strictures. Of 109 children admitted to our hospital with caustic ingestion, 10 developed strictures. The dilatations were carried out for periods varying from 9 months to 4 years. While 3 patients needed surgical treatment, 7 did not and did well. The oesophageal perforation rate with dilatations was only 0.47% (2 perforations from a total of 424 dilatations). Long-term dilatations are successful in managing a majority of CSO in children and are associated with minimal complications.

Congenital cystic adenomatoid malformation and extralobar sequestration occurring independently in the ipsilateral hemithorax.

We report a case of congenital cystic adenomatoid malformation (CCAM) and extralobar pulmonary sequestration (EPS) occurring independently in the ipsilateral hemithorax. A literature search using Medline, Winspirs 2.0, found 14 previously reported cases of CCAM within an EPS. There are no reports of each form of congenital pulmonary abnormality occurring separately in the same patient.

Pleuropulmonary blastoma: four cases.

Pleuropulmonary blastoma (PPB) is a rare malignant neoplasm affecting children. A retrospective review was carried out of patients diagnosed as having PPB at one institute over a period of 16 years. The presentation, diagnosis, treatment, and family history were studied. PPB usually presents with symptoms and signs of respiratory tract infection, and the diagnosis may be delayed. There are no distinguishing clinical features or imaging studies. The diagnosis is made on histologic examination of tumour material and is sometimes difficult to differentiate from benign cystic lung lesions. The treatment is primarily complete excision of the tumour, followed in some cases by intense chemotherapy. PPB is a strong predictor of the presence of tumours in close relatives. Four patients treated at our institute are discussed along with a review of the literature.

Multiple organ malrotation syndrome with duodenal atresia: a case report.

Duodenal atresia (DA) can be associated with multiple anomalies. Multiple organ malrotation syndrome (MOMS) involves laevoversion of the liver and gall bladder and dextroversion of the stomach and spleen. We report a case of MOMS with DA. Embryologic aspects, investigation, and treatment are discussed.

Malrotation in newborns following antenatal diagnosis of intra-abdominal cyst.

Two newborn girls had malrotation, small bowel in a subdiaphragmatic location on the right and leftward displacement of the liver. On antenatal scans, each had been diagnosed as having a large intra-abdominal cyst, but this had disappeared in both by the time of delivery. Both infants were asymptomatic at birth. One baby had a wrinkled abdominal wall, which is typically a component of prune belly syndrome. Both babies underwent Ladd procedure for their malrotation. In one, plate-like calcification over the hepatic capsule was the only residue of the previous cyst. In the other, mesenchymal hamartoma of the liver was diagnosed from histology of a collapsed adherent cyst.

Post circumcision meatal stenosis: 12 years' experience.

AIMS: To study the presentation of meatal stenosis as a complication of circumcision done in boys of neonatal or nappy age. METHODS: A total of 50 patients were studied. These patients had meatotomy performed to treat meatal stenosis. All the patients had circumcision during the neonatal period or in the nappy age. Meatal stenosis was defined as change in the appearance of the delicate lips of the urinary meatus, with loss of elliptical shape to a circular shape because of fibrosis or scarring, with visually apparent narrowing. Patients with this appearance and no symptoms, but who had presented with a hernia, undescended testes or some other unassociated condition and had meatotomy were for the purpose of this study classed as the incidental group. Patients who were symptomatic and had the meatal stenosis as defined above were classed as the symptomatic group. RESULTS: Sixteen patients (total n = 50) had the diagnosis of meatal stenosis made incidentally. Thirty four patients, (68% of the total treated by meatotomy) presented to the clinic, being symptomatic due to meatal stenosis. The median age at presentation of the symptomatic group was 48 months (range 3 months-13 years) following circumcision. In all the symptomatic patients meatotomy alleviated the symptoms. All the operated patients were seen between one to three months following the operation and discharged. There were no late presentations with recurrence of meatal stenosis or complications of the treatment. CONCLUSION: Meatal stenosis is an under recognised complication of circumcision done in neonatal and nappy aged boys. Symptomatic presentation from meatal stenosis can be very late.

Gastroschisis: can the morbidity be avoided?

Although the mortality associated with gastroschisis (GS) has fallen markedly over recent years, postoperative morbidity and the incidence of complications remain high. Many different factors may contribute to this morbidity; the aim of this study was to determine which factors contributed most. Measures of morbidity used were time to full oral feeding (FOF), time on parenteral nutrition (PN), age at discharge, and incidence of complications. Between 1969 and 1995, 44 neonates with GS were treated; there were 6 deaths. The average initial temperature of the patients who died was 34.6 degrees C compared with 36.0 degrees C for the rest of the group (P = 0.02). Staged repair and prematurity were associated with increased time to FOF, time on PN, and age at discharge (P < 0.001). When the corrected post-term age was used, the difference between preterm and term babies was no longer significant. Mode of delivery did not influence any measure of morbidity. Seventeen patients (46%) had complications related to PN administration and 18 (43%) developed complications related to their surgery. There were no significant differences in these measures of morbidity when comparing patients born in the first half of the study period with those born in the last half. Multivariate analysis revealed that time to FOF, time on PN, and age at discharge were all strongly independently associated with staged repair and with the presence of complications of PN (all F > 7.2 and P < 0.01). Mode of delivery, gestational age, admission temperature, the need for postoperative ventilation, and complications of surgery were not independently associated with any of the measures of morbidity examined. Our data suggest that term delivery and primary closure of the defect are likely to minimise the morbidity experienced by infants with GS.

Are babies with gastroschisis small for gestational age?

A large proportion of babies with gastroschisis (GS) have low birth weights. It is not clear, however, whether only certain subgroups or the whole population of babies with GS have low birth weights. The aim of this study was to ascertain if the birth weights of babies with GS are significantly lower than those of the general population and to determine if the birth weights of babies with GS from two different populations were significantly different. From 1969 to 1995, 44 babies with GS were treated at Auckland Children's Hospital, New Zealand. From 1980 to 1993, 69 babies were treated at Birmingham Children's Hospital, England. For each group, the mean birth weight relative to the mean birth weight for gestation (WtStdev) was significantly different from zero (Auckland = -0.806, Birmingham = -0.762, P < 0.001, one-sample analysis). The mean WtStdev scores from each centre were not significantly different from each other. Our data demonstrate that the birth weights of babies with GS are significantly lower than those of the general population and are similar in different populations. These findings support the notion that a normally functioning intestinal tract is essential for normal fetal growth.

Neonatal ascites due to congenital jejunal obstruction.

Small bowel atresia may present with congenital ascites. A neonate with ascites was found to have jejunal atresia complicated by volvulus and perforation.

Essential fatty acid deficiency in infants receiving parenteral nutrition.

The clinical and biochemical features of essential fatty acid deficiency are described in an infant with gastroschisis who required long-term (6 mo) parenteral nutrition. The deficiency responded to therapy with Intralipid, topical sunflower oil, and breast milk. In a prospective study of three infants with gastroschisis, biochemical essential fatty acid deficiency developed in each during the first week of lipid-free parenteral nutrition; clinical signs of the deficiency were absent. The biochemical features were progressive in the one patient followed for 19 days, and were associated with a decrease in weight gain. Both the deficiency and weight gain were corrected by Intralipid. Biochemical essential fatty acid deficiency did not develop in three other gastroschisis infants who were given prophylactic Intralipid (two patients) or topical sunflower oil (one patient). We conclude that all infants on parenteral nutrition should receive a source of linoleic acid to prevent essential fatty acid deficiency.

Diagnosis of Hirschsprung's disease by punch biopsy of rectum.

234 punch biopsy specimens of rectal tissue were taken from 112 children. In 94% of the patients the diagnosis of Hirschsprung's disease was confirmed or refuted by the first biopsy. There were no false-positive or false-negative results. One patient developed a serious complication, a pelvic haematoma.