[Diagnostic image (113). A neonate blowing bubbles. Esophageal atresia with tracheoesophageal fistula, Hirschsprung disease and suspected Down's syndrome]. / Diagnose in beeld (113). Een 'bellenblazende' pasgeborene. Oesofagusatresie met distale tracheo-oesofageale fistel, ziekte van Hirshsprung en aanwijzingen voor het syndroom van Down.

In a male neonate 'blowing bubbles', three diagnoses were seen on a combined thoracic and abdominal X-ray: esophageal atresia with tracheoesophageal fistula, Hirschsprung's disease, and suspected Down's syndrome (because of the presence of II pairs of ribs).

The cost-effectiveness of neonatal surgery and subsequent treatment for congenital anorectal malformations.

BACKGROUND/PURPOSE: The progress made in all fields of medicine, including neonatal surgery, has contributed to the rise in healthcare costs. Although neonatal surgery may provide survival gains, these could be at the expense of worse quality of life caused by impairment after surgery. For example, congenital anorectal malformations (CAM) are complex anomalies, and the surgical techniques available have their limitations in achieving continence. It therefore seems justifiable to consider what the effects of treatment are in relation to the costs. Evidence of the cost-effectiveness of neonatal surgery, however, is lacking. METHODS: The authors analyzed both direct and indirect, medical and nonmedical costs in patients who had undergone treatment for CAM. Quality-adjusted life years (QALYs) were measured using the EuroQol EQ-5D questionnaire. Descriptive quality-of-life data were collected using a disease-specific questionnaire and a medical consumption questionnaire. RESULTS: Mean costs of treatment are calculated at Euro 31,593. Treated CAM patients suffer stool difficulties and their medical consumption is relatively high. The EQ-5D, however, shows that the quality of life of CAM patients is only slightly lower than that of the general population (0.88 v 0.93). Treatment results in a gain of 12.7 QALYs. Costs per QALY of treatment for CAM amount to Euro 2,482. CONCLUSIONS: Treatment for CAM has a favorable cost-effectiveness ratio compared with other evaluated healthcare programs. Bearing in mind the increasing political interest in evidence-based and cost-effective medicine, the results are encouraging.

Recurrent digital fibroma, focal dermal hypoplasia, and limb malformations.

Recurrent digital fibroma of infancy generally is considered a sporadic tumor of childhood. We describe the case of a mother with recurrent digital fibroma at a young age who gave birth to a daughter with focal dermal hypoplasia, coloboma of the iris and eyelids, anal atresia, and extensive limb malformations. When the infant was 3 months old, fibromas started to appear at the fingertips. The cases of three additional patients are described, with a similar combination of multiple digital fibromas, pigmented marks on the temporal region, and limb malformations. One of these patients has consanguineous parents. The clinical findings overlap partially with Gorlin-Goltz syndrome, which has been renamed by some authors "microphthalmia with linear skin defects" (MLS). Since the skin signs are clearly different, however-more like those of Setleis syndrome ("forceps mark" temporal dysplasia)-the patients described here seem to have a new combination of congenital malformations. Deletion of distal Xp, known to occur in some MLS patients, was not detected using cosmids in fluorescence in situ hybridization. This pattern of digital fibroma with congenital malformations seems to represent a new syndrome.

Rectoperineal fistula in newborn boys.

Three newborn boys presented with features suggestive of classic low anorectal abnormality. However, during surgery they were found to have an intermediate anorectal abnormality and a rectoperineal fistula rather than an anocutaneous fistula. The surgical treatment of these infants is discussed.

Continence after posterior sagittal anorectoplasty.

Posterior sagittal anorectoplasty (PSARP) was introduced in 1982 by Peña and De Vries as a new operation for patients with a high anorectal malformation. The degree of postoperative continence is reported to be high. During the past decade, too, new insights have been gained into the embryology of anorectal malformations. Evaluation of PSARP in relation to current understanding of the development and anatomy of the anorectum and the pelvic floor has led us to conclude that optimal continence cannot be expected. Fifty patients with a high anorectal malformation underwent PSARP between June 1983 and May 1990. Postoperative follow-up consisted of anamnesis (subjective) and electrostimulation, defecography, and anorectal manometry (objective). All patients are alive, and all but one are being evaluated regularly. Subjectively, the majority of patients were more or less incontinent, with soiling of pants at least once a day. On the basis of objective criteria, virtually all patients appeared to be incontinent, and in only one patient was the mechanism of defecation almost unimpaired after PSARP. From this study, we conclude that although PSARP provides a good aesthetic result, patients will never acquire normal continence.

Defaecation problems in children: anatomy, physiology and pathophysiology of the defaecation mechanism.

Disturbed defaecation mechanism in children is an underestimated problem. On the one hand because many are unaware that children too may have serious defaecation problems, on the other hand due to ignorance of the anatomy and the physiology of the congenital malformations of the defaecation mechanism, such as anorectal malformations and Hirschsprung's disease. The notion that after operative correction the defaecation mechanism will function normally again is incorrect, for the surgical techniques have their limitations, and at postoperative check-up subjective feelings often obscure correct observation. Objective registration methods, morphological and functional tests that may elucidate the defaecation problem, are not being used to their full advantage. Two case histories illustrate the correlations between the anatomical structures of the defaecation mechanism, the functions of these structures, the history and physical examination of the patient, and defaecography and anorectal manometry. History and physical examination should be considered subjective registration methods, defaecography and anorectal manometry objective methods. After scrupulous evaluation of the recorded data it will appear to be possible to decide on the most suitable treatment and guidance.

[Anorectal abnormalities]. / Anorectale misvormingen.

An insight in the genesis of anorectal abnormality, combined with a painstaking diagnostic examination leading to a justifiable, well-considered therapeutic procedure, may spell hope and better prospects to approximately 35 children that are born with this abnormality in The Netherlands each year. Subsequently, the function of the anorectoplasty has to be evaluated at regular check-ups. Coupled with a sound understanding of the defaecation mechanism, this should lead to uniformity in the treatment and sustenance of a child with anorectal abnormality, which will reduce the burden of this handicap for both parents and child to a minimum.

[The coelom and its lining as organoblastema]. / Le coelome et son revêtement comme organoblastème.

Dissent in the description of the walls of the serous cavities in the thorax has led to an investigation of the origin of these serous walls in man. The macroscopical and microscopical observations in human dissected and sectioned material not only solved this contradiction, but also suggested, that the development of the coelom is a more complicated process than is presumed in the literature. On one side our observations are confirmed, on the other side they are contradicted. Therefore, we decided to follow the development of the coelom conscientiously, step by step. A pilot study of embryonic stages in the mouse pointed out that in this laboratory animal very similar processes take place, and that in very young stages the coelomic wall consists of epitheloid cells. Studying the behaviour of these epitheloid cells in embryonic stages in the rat, it appeared that the development of the coelom must not only be looked upon as an outgrowth and a modification of a cavity, but as an outgrowth and a modification of an organ, which consists of a cavity surrounded by its own specific wall. It is evident that the cells of this coelomic wall determine the outgrowth and the modification of this coelomic organ, which can be considered as a blastema for various organs in the thorax.