Course of life into adulthood of patients with biliary atresia: the achievement of developmental milestones in a nationwide cohort.

PURPOSE: To investigate the course of life of young adults diagnosed with biliary atresia (BA) in infancy by comparing patients who did and did not underwent transplantation with an age-matched Dutch reference group. METHODS: All patients from the Dutch BA registry, aged >18 years, were invited to complete the course of life questionnaire. RESULTS: Forty patients participated (response = 74%). Twenty-five had not undergone transplantation; 15 had undergone orthotopic liver transplantation. One significant between-group difference was found, namely in substance use and gambling. BA patients who underwent transplantation reported less use than the reference group (p = .01, moderate effect size). Additional moderate effect sizes were found for differences in psychosexual and social development and antisocial behavior. Patients who underwent transplantation had lower scores than one or both other groups. CONCLUSIONS: Development of BA survivors who did not undergo transplantation seems not delayed, whereas that of transplanted patients does seem somewhat delayed. However, patients who underwent transplantation display less risk behavior. Larger samples are necessary to confirm these findings.

Neurenteric cyst--a case report of this rare disorder.

Neurenteric cysts are rare congenital lesions that are believed to be the result of the split notochord syndrome. We report the clinical case of a 5-year-old boy presenting with vague gastrointestinal symptoms and fatigue, who had undergone resection of a small intestine duplication cyst as a newborn. Computed tomography revealed a mediastinal neurenteric cyst with partial destruction of several thoracic vertebrae. Resection of the tumor proved effective. Recognition of this disorder is important: because of its benign nature, the prognosis after surgical resection can be good. If the diagnosis is made in an early stage, unnecessary progressive destruction of surrounding structures may be prevented.

Factors associated with recurrence and metastasis in sacrococcygeal teratoma.

BACKGROUND: Sacrococcygeal teratoma (SCT) is a relatively uncommon tumour, with a high risk of recurrence and metastasis. The factors associated with recurrence and metastatic disease were studied. METHODS: A retrospective review was conducted of 173 children with SCT treated between January 1970 and February 2003 at the paediatric surgical centres in the Netherlands. Risk factors were identified by univariate and multivariate analysis. RESULTS: Eight children died shortly after birth or around the time of operation. Nine children, all over 18 months old, had metastases at presentation. Four teratomas with metastasis showed mature histology of the primary tumour. Nineteen children had recurrence of SCT a median interval of 10 months (range 32 days to 35 months) after primary surgery. Risk factors for recurrence were pathologically confirmed incomplete resection (odds ratio (OR) 6.54 (95 per cent confidence interval (c.i.) 2.11 to 20.31)), immature histology (OR 5.74 (95 per cent c.i. 1.49 to 22.05)) and malignant histology (OR 12.83 (95 per cent c.i. 3.27 to 50.43)). Size, Altman classification, age and decade of diagnosis were not risk factors for recurrence. One-third of the recurrences showed a shift towards histological immaturity or malignancy, compared with the primary tumour. Seven patients died after recurrence, five with malignant disease. CONCLUSION: This national study showed that SCT recurred in 11 per cent of the children within 3 years of operation. Risk factors were immature and malignant histology, or incomplete resection. Mature teratoma has the biological capability to become malignant.

[Recurrent abdominal pain caused by left mesocolic hernia]. / Linkszijdige mesocolische hernia als oorzaak van recidiverende buikpijn.

A 37-year-old man presented with symptoms of intestinal obstruction. Laparotomy revealed a congenital left mesocolic hernia. Partial removal ofthe hernial sac that largely enclosed the small intestine resulted in a speedy recovery. Thereafter the patient was able to eat without abdominal symptoms. Congenital mesocolic hernias are an infrequent cause of intestinal obstruction. In order to conduct the operation properly, surgeons must have a good understanding of the origin of the hernia and its anatomic relationships.

[Icterus prolongatus is a reason for laboratory investigation, also in breastfed neonates]. / Icterus prolongatus reden voor laboratoriumdiagnostiek, ook bij borstgevoede zuigelingen.

Three infants, a boy aged 4 months and two girls aged 3 months and 6 weeks, respectively, had jaundice while they were breastfed. Until then, the jaundice had been interpreted as an innocent consequence of the breastfeeding. In the two eldest patients, however, biliary atresia was diagnosed. A hepatoportoenterostomy was performed in the girl when she was 15 weeks old, but both ultimately underwent a liver transplantation with a good clinical outcome. In the youngest patient, the jaundice disappeared spontaneously and retrospectively was indeed probably associated with breastfeeding. Thorough physical examination and biochemical analyses (total and direct bilirubin, gamma-glutamyl-transferase) are important for the identification of neonatal cholestasis syndromes. Laboratory investigation is recommended in any neonate jaundiced after the age of 3 weeks to differentiate pathological neonatal cholestasis from prolonged jaundice related to breastfeeding.

[The treatment of oesophageal atresia in The Netherlands]. / De behandeling van oesofagusatresie in Nederland.

The first description of oesophageal atresia dates back to 1670. Oesophageal atresia used to be regarded as a lethal disease, but since the successes of Leven and Ladd in 1939 and Haight in 1941 surgical correction is possible. The Dutch history ofoesophageal atresia begins in 1946. After the successes in America became known, several Dutch surgeons started to treat patients with oesophageal atresia, notably J.ten Kate, L.D.Eerland, M. Schoorl and P.J.Kooreman. In those days, paediatric surgery did not yet exist as a separate specialty. Today, paediatric surgery is concentrated in 6 paediatric surgical centres in the Netherlands. Thanks to the pioneers mentioned and the concentration of knowledge and expertise in the centres, the mortality ofoesophageal atresia patients in the Netherlands has decreased to approximately 9%, despite the fact that currently the gestational age and birth weight of patients is lower and the number of patients with comorbidity is higher.

Perforation of a congenital umbilical hernia in a patient with Hurler's syndrome.

Congenital umbilical hernias in Hurler's syndrome (mucopolysaccharidosis I) are generally treated conservatively, because complications such as incarceration are, rare, and risks involved in surgical correction are high. This case report describes the surgical management of a ruptured umbilical hernia in a 3-year-old child with Hurler's syndrome. Emergency repair of the hernia was performed with primary closure of the fascia; hernia recurrence 6 months later was treated laparoscopically using a PTFE mesh graft with no evidence of re-recurrence. In selected cases of Hurler's syndrome (warning signs of rupture) elective surgical hernia repair may be indicated.

[A cavernous haemangioma of the colon as the cause of rectal bleeding in childhood]. / Een caverneus hemangioom van het colon als oorzaak van rectaal bloedverlies op de kinderleeftijd.

A 13-year-old girl presented with rectal bleeding, abdominal pain and a palpable mass in the lower right abdomen. The history mentioned a chronic anaemia since she was 2 years old. Further examination did not give any indications for inflammation as etiological factor and showed a thickening of (apparently) the small intestine. A laparotomy was performed, since the age and presentation made a malignant lymphoma a probable diagnosis. The combination of chronic anaemia and rectal bleeding also suggested a benign vascular malformation. A large cavernous haemangioma of the transverse colon was found. This was resected and the patient fully recovered. Although a haemangioma of the colon is rare, it is important to keep this possibility in mind in the case of rectal bleeding in childhood, especially when other causes of rectal bleeding are excluded. Usually haemangiomas show spontaneous regression, but this is rare in intestinal haemangiomas. Surgical resection is the therapy of choice in the case of a solitary haemangioma.

Excellent long-term outcome for survivors of apple peel atresia.

BACKGROUND: Apple peel atresia is the rarest type of small bowel atresia. Because of its rare occurrence and high mortality rate, little is known about the long-term outcome of these children. METHODS: The patient charts, operative reports, and office notes of 15 children with apple peel atresia from 6 pediatric surgical centers in the Netherlands were reviewed. Long-term follow-up was assessed through review of office notes and through questionnaires. RESULTS: The median age at the time of operation was 1.5 days. Postoperatively, 53% suffered from cholestasis, and 40% were septic. Three patients died (20%). At follow-up at a median age of 24 months, 1 child showed growth retardation and 2 children suffered from short bowel syndrome. At the time of the questionnaire, all children showed normal growth and development. CONCLUSIONS: Even though children with apple peel atresia often suffer serious morbidity like short bowel syndrome and sepsis during the postoperative course, late morbidity turned out to be low. If the patients survive the operative and direct postoperative period, and survive the morbidity associated with malnutrition and the long-term use of total parenteral nutrition, they have a good chance of having normal bowel function with normal growth and development.

Quality of life in patients with anorectal malformation or Hirschsprung's disease: development of a disease-specific questionnaire.

PURPOSE: Hirschsprung's disease and anorectal malformation are congenital diseases of the digestive tract with sequelae into adulthood. The quality of life of patients with these diseases is largely unknown. The aim of the study was 1) to construct a self-report disease-specific instrument to assess the quality of life in these patients and 2) to evaluate its psychometric performance. METHODS: An age-specific (6 and 7 years, 8-11 years, 12-16 years, and >17 years) questionnaire called the Hirschsprung's disease/anorectal malformation quality-of-life instrument was constructed. This questionnaire consists of 39 to 42 items, grouped into 10 to 11 scales that cover physical, emotional, and social functions as well as disease-related symptoms. Generic quality-of-life data were obtained in addition. A national sample of 715 patients aged six years and older completed the questionnaire (response rate, 61.9 percent). RESULTS: Multitrait scaling analyses confirmed the hypothesized scale structure with exception of the scales related to diet for the two youngest groups. Cronbach's alpha ranged (with exception of the diet scales) from 0.62 to 0.91 for children (8-11 years), from 0.69 to 0.82 for adolescents (12-16 years) and from 0.57 to 0.91 for adults. Selective scales were able to discriminate between subgroups of adult patients known to differ in disease and disease severity. Relevant scales of the adult version showed substantial correlations (> 0.40) with comparable scales of the SF-36. In the two youngest age groups the differences between subgroups of patients were less significant, but in the expected direction. CONCLUSIONS: With the exception of the scales related to diet, the Hirschsprung's disease/anorectal malformation quality-of-life instrument is an instrument with promising reliability and validity, to measure the disease-specific quality of life of patients with anorectal malformation or Hirschsprung's disease.

[Abdominal pain and vomiting: a 4-year old boy with relaxation of diaphragm]. / Buikpijn en braken: een 4-jarige jongen met relaxatio diaphragmatica.

A 4-year-old boy presented with vomiting, abdominal pain and a visible swelling on the left side of the upper abdomen. He had been generally unwell for a week, and had been suffering from constipation for a longer period of time. Radiological examination revealed a large space containing air and fluid in the left side of the upper abdomen and the chest region. During surgery, gastric volvulus and an elevated diaphragm were found. Plication of the diaphragm was performed, and the intra-abdominal organs were replaced in their correct positions. Patient recovered well and remained without complaints. Diaphragm relaxation is rare, and can be either congenital or acquired. Unlike congenital diaphragmatic hernia, diaphragm relaxation is characterised by an elevated diaphragm which, although intact, is hypoplastic.

[Morbidity in children after surgical treatment of esophageal atresia and tracheoesophageal fistula]. / Morbiditeit bij kinderen na chirurgische behandeling wegens oesofagusatresie en oesofagotracheale fistel.

Four neonates, one girl and three boys, displayed symptoms such as coughing during feeding and bubbleblowing; in two of their mothers there had been positive discongruence during pregnancy. The children had an oesophageal atresia and/or tracheo-oesophageal fistula, which were corrected surgically. In one of the two children with a longer distance between the proximal and distal parts of the oesophagus, complications continued to occur; the others recovered reasonably well. The first successful creation of an anastomosis in oesophageal atresia was performed in 1941. Due to the improvement in the treatment the mortality in the past decennia has lowered. An increased morbidity has become apparent. The attention is nowadays focussed on the treatment of morbidity such as strictures, leakage of the anastomoses, gastro-oesophageal reflux, tracheomalacia and recurrent fistula.

Scrotal hematoma, anemia, and jaundice as manifestations of adrenal neuroblastoma in a newborn.

Clinically, a neuroblastoma presents mostly as an abdominal mass. Within the tumor, bleeding can be present, sometimes extending in to its surroundings. This case report describes a neuroblastoma, presenting as scrotal hematoma in a newborn boy, which initially raised the suspicion of a torsion testis. In this patient, the bleeding descended through the subcutaneous and muscular tissue into the scrotum. In addition, anemia and jaundice were marked features. This clinical manifestation of a neuroblastoma has not been reported previously. Ultrasonography is advised as the first diagnostic step to exclude retroperitoneal origin of the bleeding. Magnetic resonance imaging and meta-iodobenzyl guanidine scanning were helpful tools in the final diagnostic workup.

Complications of venous access ports in 132 patients with disseminated testicular cancer treated with polychemotherapy.

PURPOSE: Venous access ports (VAPs) can be used to administer polychemotherapy to patients with malignancies. The purpose of this study was to evaluate perioperative and late complications related to VAP implantations and to analyze factors that may predict the development of complications. PATIENTS AND METHODS: During the period 1983 to 1994, 135 VAPs were implanted in 132 patients with disseminated testicular tumors. In a retrospective study, the perioperative and late complications were recorded in this homogeneous patient group. Multivariate analysis was performed to detect factors that may predict the development of complications. RESULTS: The median age of the patients was 28 years (range, 16 to 55). Perioperative complications were recorded in five patients (3.7%): pneumothorax in two (1.5%), blood loss in two (1.5%), and mediastinal bleeding in one (0.7%). The ports remained in situ for a total of 55,247 days (median, 413; range, 7 to 1,607). In 31 patients (23%), 42 late complications developed (31%): system obstruction in 13 (9.6%), thrombosis in 11 (8.1%), infection in six (4.4%), catheter defect in six (4.4%), extravasation in four (3.0%), and local skin necrosis in two (1.5%). Late complications were significantly more common in patients who had received chemotherapy before VAP implantation (P < .001). Univariate analysis showed that there were significantly more complications after VAP implantation under local anesthesia than under general anesthesia (P < .05). CONCLUSION: Polychemotherapy could be administered in an adequate manner using a VAP. Complications occurred in 26.7% of a homogeneous group of patients who received a VAP implantation for polychemotherapy for disseminated testicular cancer. Chemotherapy treatment before VAP implantation was the only independent risk factor for late complications.

[Surgical treatment of lymphadenitis caused by non-tuberculous mycobacteria in children]. / De chirurgische behandeling van lymfadenitis door niet-tuberculeuze mycobacteriën bij kinderen.

A retrospective study was made of 43 consecutive cases of children with the diagnosis of non-tuberculous mycobacterial lymphadenitis treated in our surgical department between 1976 and 1992. In 16 of the 42 children the diagnosis was initially missed and these children elsewhere underwent incision and drainage resulting in a chronic sinus. In 37 children the disease was localized in the head-and-neck area, while in the other 6 inguinal or axillary lymph nodes were involved. All 43 children underwent a regional lymph node dissection with a partial parotidectomy in three. In 5 children recurrent disease developed within 4 months after dissection. The recurrences were all successfully treated with additional surgery. In none of the children did the dissection result in permanent damage of nerves, especially not of the facial nerve. The cosmetic results were good but depended on the possibilities of entering the neck through a cosmetically ideal incision. Early recognition of the disease is of the utmost importance for an adequate surgical and cosmetically desirable result. An aggressive surgical therapy is advocated and will not result in permanent damage provided the surgeon has the technical skill required for neck dissections.

Neonatal teratoma presenting as hygroma colli.

We describe a neonate with a large tumour involving cranial, cervical and upper mediastinal regions, which presented clinically as hygroma colli. Radiological and pathological investigations showed characteristics of a mature teratoma and prominent cystic components within the tumour. These findings suggest that during early fetal development primary lymphatic sacs were obstructed by a teratoma leading to hygromatous dilatations of lymphatic vessels or that the abnormal proliferation of lymphatic vessels (hygroma) was part of the teratoma, developing from mesoderm as one of the three germinal layers from which teratomas originate. A third possibility is that the cystic part of the tumour originated from plexus chorioideus tissue, containing CSF. The last possibility is most probable in this patient.