[Junctional epidermolysis bullosa non-Herlitz with urethral affection].

Epidermolysis bullosa (EB), a hereditary, blistering form of dermatosis, can be divided into the following three main groups: epidermolysis bullosa simplex (EBS), junctional epidermolysis bullosa (JEB) and dystrophic epidermolysis bullosa (DEB). The previously known form of generalized atrophic benign epidermolysis bullosa (GABEB) is classified as junctional epidermolysis bullosa non-Herlitz (JEB-nH) today. An 11-year-old boy with junctional epidermolysis bullosa non-Herlitz with urethal involvement had a complicated course with bladder obstruction and secondary renal insufficiency.

Bilateral Wilms tumor in a boy with severe hypospadias and cryptochidism due to a heterozygous mutation in the WT1 gene.

Mutations in the WT1 gene causing Wilms tumors were first reported in WAGR syndrome (Wilms tumor, Aniridia, Genitourinary malformation, mental Retardation) and Denys Drash syndrome (pseudohermaphroditism, Wilms tumor, nephropathy), but only in a few patients with hypospadias and cryptorchidism without other signs of Denys Drash (DDS) or WAGR syndrome WT1 mutations were identified. We report a boy, who was born in 1989 with hypospadias and bilateral cryptorchidism. Previous karyotyping and endocrine studies had ruled out any known cause of male pseudohermaphroditism.

[Advantages and limits of primary final correction of congenital abnormalities].

Complete correction of malformations in the first hour or days of life has always been the target of pediatric surgeons. The possible halt of palliative operations involving the application of stomata in the trachea, esophagus, stomach, bowels and at the diverting urinary tract is to lighten the situation for parents and neonatologists. Requirements for a definitive primary surgical correction are an accurate diagnosis and careful selection of the child.

Laser treatment of posterior urethral valves in neonates.

The posterior valves of 13 neonates were resected using the neodymium:YAG laser in retrograde transurethral endoscopy. There were no strictures or other complications.

[Is concomitant preventive appendectomy in childhood justified?].

Appendicitis is an entity without specific symptoms. Multiple false diagnoses result from this, especially in childhood, in pregnancy, and in old age. We discuss whether incidental protective appendectomy is recommended in childhood in small bowel obstructions due to intussusception, comparing the data obtained from 100 children who were appendectomized with those of 32 children who were not.

[Technique of open and endoscopic laser treatment in pediatric urology].

The neodymium:YAG laser is now the most common type of laser applied in pediatric surgery. The bare fibres with diameter of 400 microns and 600 microns can be introduced through the side channel of #8 cystoscope thus the cystoscopic laser can be used even in newborns.--Generally accepted power settings are not yet available for laser therapy in pediatric urology.

[Megacalycosis in childhood].

Congenital megacalycosis is a renal dysplasia characterised by hypoplasia of the medullary pyramids and associated non-obstructive dilatation of the calyces. Calyceal dilatation promotes via disturbed urodynamics the manifestation of chronic interstitial nephritis and calculus formation. Therapy is primarily not necessary, but in the presence of stone development and chronic infections surgical procedures may become indispensable.

Surgical therapy of congenital distal urethral stenoses in girls by meatoplasty.

In girls there are three distinct morphological kinds of congenital distal urethral stenoses in the broad sense. Incomplete meatal stenoses are the most frequent of these. Calibration of the urethra appeared to be the most reliable diagnostic tool in revealing distal urethral obstructions.

[Disease picture of primary chronic intestinal pseudo-obstruction in childhood].

Primary CIPSO involves ileus symptoms without mechanical occlusion; these are caused by absence or ineffectiveness of peristalsis despite normal intestinal wall structure. The neonatal and adult types are differentiated. Ileus is progressive in the neonatal clinical pictures of CIPSO (neonatal CIPSO, MMIHS, congenital short-bowel syndrome) and chronic in the adult type, where it is also ultimately fatal, however.

[Acute abdomen in immunoreaction mediated diseases].

Assessment of the acute abdomen as a real or simulated complication in immunovasculitis is extremely difficult. Despite modern laboratory and imaging procedures, the number of false diagnoses is considerable, and a superfluous, falsely indicated emergency laparotomy can be just as fatal as the failure to perform a necessary surgical intervention. It is important to do a careful follow-up, including sonography and possibly laparoscopy, and to bear in mind the experience of H.

Incidence of malformations of the urinary tract in association with clefts of lip, alveolus, and palate.

Malformation syndromes accompanied by cleft development in the lip-alveolus-palate (LAP) region are sometimes associated with anomalies of the efferent urinary tract. In the present clinical study, 68 children with an LAP-cleft were routinely subjected to radiological examination of the efferent urinary tract. These revealed pathological alterations, in varying degrees, in 26 children.

[Frequency of urinary tract abnormalities in cleft lip-maxilla-palate patients].

Malformations of the urinary tract favour urinary tract infection; on the other hand, a urinary tract infection is often the first indication of a malformation of the urinary tract. Further signs are externally visible malformations, such as cheilognathopalatoschisis. In two years we examined 53 children with schistases urologically and found urinary tract anomalies in 39,6%.

[Diagnosis and treatment of congenital cysts and fistulae of the neck].

The diagnosis and operative treatment of congenital cervical fistulae and cysts are in many cases difficult, especially abnormalities of the first branchial cleft and of the sinus cervicalis. In our hospital 90 congenital cervical fistulae and cysts were treated surgically between April 1972 and August 1979, excluding cysts of the thyroid gland, lymphangiomas etc. Four of these children with a median cyst and two children with fistulae of the first branchial cleft had recurrences due to partial obliteration and fibrosis of the ducts following inflammation.

[The syndrome of the fifth postoperative day after appendicectomy (author's transl)].

41 children were subjected to re-laparotomy because of obstruction after appendectomy. The causes were entero-colitis, occlusive ileus, rupture of the bowel and suture insufficiency. In this paper we report 6 children who had none of these complications.