[Anal sphincter dysplasia as cause of chronic defecation disorders: a clinical and genetic study]. / Analsphinkterdysplasie als Ursache chronischer Defäkationsstörungen: eine klinische und genetische Studie.

Anal sphincter dysplasia is a congenital, often familial malformation of the anal canal. In the literature, the anomaly is poorly represented and usually referred to as anteriorly or ventrally displaced anus. The range of symptoms includes chronic constipation, severe straining at defecation, encopresis and chronic paradoxical diarrhea with fecal incontinence. One usually finds dysplasia and absent (type I) or incomplete (type II) fixation of the sphincter complex to the coccyx. Both are demonstrable by computerized tomography (CT) as well as by intraoperative dissection of the sphincter muscles. There ist also shortening of the ectodermal segment of the anal canal which is obviously responsible for the disturbed stool sensation. Posterior butterfly anoplasty combined with fixation of the sphincter complex to the coccyx usually leads to immediate improvement of defecation disorders. A genetic study on 42 patients (age 1-52 years) operated on for anal sphincter dysplasia revealed autosomal dominant inheritance with variable expression and probably incomplete penetrance of the mutated gene.

Isolation of respiratory syncytial virus from liver tissue and extrahepatic biliary atresia material.

Respiratory syncytial virus (RSV) was isolated from liver tissue in a 7-month-old infant with extrahepatic biliary atresia. To our knowledge this is the first report of RSV isolation from human liver tissue.

[Perianal fistula as a cause of meningitis?]. / Perianalfistel als Ursache einer Meningitis?

In childhood perianal fistulas are frequent. The origin of the fistula is the anorectal line, especially from the Morgagni crypts. Local recurrence of abscesses are observed. Due to two observations we conclude that the fistulas caused a sepsis with E. coli. In one case meningitis and a consecutive empyema occurred, in a second case pyelonephritis. In the following we describe the patient with meningitis and subdural empyema.

The influence of small bowel contamination on the pathogenesis of bowel obstruction.

Altered motility of the intestine after laparotomy, adynamic bowel segments, blind bowel loops following bypass operations, or diverticula may cause pathological growth of intestinal microflora and thus lead to contaminated small bowel syndrome (CSBS). As a result of malabsorption in the jejunum and ileum, loss of weight, growth arrest, diarrhea, steatorrhea, megaloblastic anemia, and hypoproteinemia may occur. In addition to these, the acute symptoms of small bowel contamination, intestinal obstruction and secretory diarrhea, are less well known. A stenosis in the terminal ileum was experimentally created in Göttingen minipigs and the bacterial flora of the small bowel assessed by quantitative cultures. After 3 months the number of aerobic and anaerobic bacteria in the pre- and poststenotic region had increased by a factor of 10(2)-10(5). The acute form of CSBS was diagnosed by microbiological examination of gastric samples in 14 children. After the children were treated with orally and intravenously administered antibiotics, the symptoms disappeared within 12-36 h. Reoperations for small bowel obstruction can be avoided by conservative treatment of CSBS with antibiotics.

The importance of oral sodium replacement in ileostomy patients.

The main function of the colon is fluid and sodium conservation. In ileostomy patients these colonic functions are lacking. The consequence is excessive loss of fluid and sodium, failure to thrive, and skin excoriation around the ileostomy. Patients with ileostomies require 6-10 mmol/kg sodium per day. With ordinary feeds, infants receive 2-4 mmol/kg sodium; therefore the sodium deficit may be estimated at 4-6 mmol/kg per day. Monitoring of adequate sodium substitution is best carried out by measuring the concentration of sodium in spot urine. Levels higher than 10 mmol/l sodium signify an adequate oral sodium intake. During the initial period of oral feeding, glucose excretion in the ileostomy fluid must be monitored, as glucose-positive ileostomy effluence necessitates additional sodium substitution in order to activate the sodium and glucose cotransport. Thirty neonates with ileostomies were followed-up retrospectively. All patients received a sodium substitution of at least 4-6 mmol/kg orally per day. The 30 patients had a total of 4769 ileostomy-days. All patients were successfully fed orally and most of them nursed at home until closure of the ileostomy.

[The significance of pathophysiologic principles of intestinal secretion for the diagnosis and therapy of ileus]. / Bedeutung pathophysiologischer Grundlagen der intestinalen Sekretion für Diagnose und Therapie des Ileus.

Intestinal obstruction is always accompanied by intestinal hypersecretion. This phenomenon explains the initial symptoms like bilious vomiting and abdominal distension as well as the later clinical signs of hypovolaemia and shock. The proximal hypersecretion in intestinal obstruction is incompletely understood and in the surgical literature on ileus only little attention has been paid to this crucial observation. In analogy to secretory diarrhea and because of own clinical observations we conclude that bowel contamination caused by intestinal stasis is mainly responsible for the increased intestinal secretion in bowel obstruction.

[Diagnosis and therapy of dumping syndrome following Nissen fundoplication with reference to pathogenetic aspects]. / Diagnose und Therapie des Dumping-Syndroms nach Nissen-Fundoplikation unter Berücksichtigung pathogenetischer Gesichtspunkte.

Between 1982 and 1987 27 Nissen's fundoplications were carried out in our institution. Postoperatively 7 infants showed a typical dumping syndrome. The symptoms were irritability, pallor, sweating, tachycardia, lethargy, diarrhoea and vomiting. In all cases an absolute refusal of feeding was observed. The diagnosis was confirmed by a typical early postprandial hyperglycaemia with hyperinsulinaemia leading to a reactive hypoglycaemia. Additionally, we were able to demonstrate an increased HbA1c as an expression of recurrent hyperglycaemias in 3 infants. In 6 infants the dumping syndrome was of short duration and the symptoms disappeared after application of a so-called dumping diet. In this diet the easily resorbable carbohydrates are replaced by uncooked starch. But in one case we were forced to use continuous enteral nutrition because of persistence of the symptoms 1 year after the Nissen fundoplication. Complete refusal of feeding is an early symptom of the dumping syndrome. If this symptom is observed after a Nissen's fundoplication, a dumping syndrome must be excluded.

[Intraoperative spasmolysis with glucagon in an irreducible invagination]. / Intraoperative Spasmolyse mit Glucagon bei schwer reduzierbarer Invagination.

We present 4 cases in which atraumatic reduction of an intussusception was achieved only after intraoperative intravenous administration of Glucagon. Because of this observation all our cases of the past 10 years with intussusceptions where bowel resection was necessary, were reviewed. Intraoperative macroscopic and histological findings revealed that bowel resections were not only necessary because of necrosis but also because of bowel wall lesions caused by traumatic reduction or the impossibility to reduce the intussusception. This aspect and the successful use of Glucagon during operation demonstrate that Glucagon should be administered wherever atraumatic surgical reduction of intussusception is not possible. This procedure may contribute to avoid unnecessary bowel resections.

[Painful pronation--a diagnostic pitfall in septic arthritis and osteomyelitis of the elbow in infancy]. / Pronation douloureuse--Ein diagnostischer Reinfall bei eitriger Arthritis und Osteomyelitis des Ellbogens im Kleinkindesalter.

Pulled elbow is a common injury in infancy and childhood. The history and clinical findings are usually classical, but one should never forget that the classical history can always be easily reconstructed by the examining physician. It can be estimated that in 93% of all cases a dramatic response to therapy can be observed. In the remaining 7% the most common cause for failure to treatment is an incomplete or recurrent subluxation of the radial head and distortions or fractures of the elbow. But in approx. 1% the examining physician must suspect a hidden osteomyelitis or osteoarthritis of the elbow. With adequate antibiotic therapy the prognosis is generally good. To avoid this diagnostic pitfall, it is essential to re-examine carefully all cases which do not respond to therapy in order to exclude an osteomyelitis.

Deleterious consequences of gastroesophageal reflux in cleft larynx surgery.

Our series of 17 children with laryngotracheal clefts is reported. In three of four cases with a complicated postoperative course, gastroesophageal reflux (GER) has been found. Three breakdowns of the surgical repair opposed to be due to GER. Only one child with a cleft type III died, although a mortality rate of 93% is reported in the literature. GER has to be excluded before tracheoesophageal cleft surgery is undertaken.

Infant dumping syndrome: reversal of symptoms by feeding uncooked starch.

Two infants with dumping syndrome after Nissen's fundoplication were bolus-fed with regular cows' milk formula and with test meals containing either cooked or uncooked starch. Cows' milk formula and test meals made with cooked starch provoked dumping symptoms, hyperglycaemia and hyperinsulinaemia. Dumping symptoms vanished and normoglycaemia was established when meals contained uncooked starch as the sole carbohydrate. The findings suggest that uncooked starch has a place in the dietary control of dumping syndrome in infants and possibly in adults.

Neuronal intestinal dysplasia--clinical and histochemical findings and its association with Hirschsprung's disease.

Neuronal intestinal dysplasia (NID) is a disturbance of the innervation of the gut. Its symptoms resemble the ones seen in Hirschsprung's Disease. Contrary to aganglionosis, however, there is hyperplasia of the ganglia. Our study revealed isolated NID (4/49 cases) to be eight times rarer than aganglionosis (33/49 patients). Combination of both diseases has been reported to occur in 20% of NID cases; we did however find it in 75% (12/16) of our patients. NID was located proximal to the aganglionic segment and reached the stomach in 1 case. Combination of both diseases resulted in superposition of symptoms, thus rendering impossible to differentiate between NID group A (with hypoplasia of sympathetic innervation and acute early onset) and group B (with normal sympathetic innervation and chronic, late onset) on clinical grounds only. Major malformations were present in 5/16 patients with NID; 2 of them had trisomy 21.

[Contamination of the small intestine as a cause for ileus attacks in children after intestinal surgery]. / Die Kontamination des Dünndarms als Ursache von Ileusepisoden beim darmoperierten Kind.

During the last two years eight children aged 3 months to 7 years were treated successfully for contaminated small bowel syndrome (CSBS). All patients had a history of a laparotomy in the neonatal period and showed bile stained vomiting and diarrhoea. On examination, a painful distended abdomen with hyperactive bowel sounds was found. Plain abdominal x-rays showed signs of mechanical intestinal obstruction. The diagnosis of CSBS was made by positive gram stain and cultures of samples taken via a nasogastric tube. After antibiotic treatment the symptoms disappeared within a few days. We therefore believe that CSBS should always be considered in the differential diagnosis of abdominal emergencies. Our views agree with those of other authors in so far as we feel that antibiotic therapy may help to avoid unnecessary laparotomies in such cases.

Familial incidence of congenital anorectal anomalies.

We describe two families with pedigrees over three and two generations with nine members affected with anorectal malformations. Both pedigrees are compatible with autosomal dominant inheritance with variable penetrance and expression or with multifactorial inheritance with a high genetic load. The recurrence risk is thought to be in the range of 10% to 20% for first degree relatives of affected members.

Prenatal diagnosis improves the prognosis of children with obstructive uropathies.

Five neonates with gross obstructive uropathies diagnosed in utero were operated during the first few days of life. Follow-up studies of up to 2 years postoperatively showed normal development of all the children. Radiologic investigations showed no obstruction and normal growth of renal parenchyma in all but one case, thus differing markedly from infants with gross obstructive uropathies who were diagnosed and referred to us some months after birth. The importance of prenatal diagnosis and hence early post partum treatment of obstructive uropathies appears to us proven.

Dumping syndrome following Nissen's fundoplication: a cause for refusal to feed.

Two cases of infantile dumping syndrome which developed following Nissen fundoplication for gastroesophageal reflux are described. Both infants were fed postoperatively via a gastrostomy and showed the typical clinical picture of dumping with failure to thrive, intermittent diarrhea, lethargy and pallor postprandially. Several glucose tolerance tests were highly pathological with marked hyperglycemia immediately after a gastrostomy meal followed by hypoglycemia two hours later. In one case HbA1c was significantly elevated which is thought to be an expression of recurrent hyperglycemia. In both infants the first and most impressive clinical sign was absolute refusal or oral feeds. Normal oral food intake was slowly re-established after normalization of blood glucose homeostasis.

Limitations in the diagnosis of valvular dysfunction using the Rickham reservoir.

The majority of shunt dysfunctions can be easily diagnosed by puncturing the Rickham reservoir with a fine needle and estimating the intracranial pressure. Experience has, however, shown that definite shunt dysfunctions can be missed by this method. These limitations of the technique are better understood by constructing a model which enables us to simulate the pressure and flow situation in a ventricular drainage system. This experimental model has shown that in cases of partial proximal or distal blockage, the flow through the shunt system is significantly diminished but not totally stopped, and the pressure reading may thus be normal. In these cases, the shunt should be revised on the basis of clinical evidence of dysfunction.

Hemiparesis--an uncommon symptom of hydrocephalus or shunt dysfunction.

We describe a boy with asymmetrical hydrocephalus in whom a marked hemiparesis of recent origin resolved completely following insertion of a shunt. In 2 children with shunted obstructive hydrocephalus due to a midline tumour a newly developed hemiparesis improved markedly in one and resolved in the other case subsequent to revision of a blocked shunt. A hemiparesis should therefore not necessarily be attributed to assumed progression of an underlying disease. Other unusual symptoms of hydrocephalus or shunt dysfunction reported in childhood as well as possible causes of hemiparesis in shunted patients are listed.