Hypertrophic pyloric stenosis in twins; genetic or environmental factors.

The etiology of infantile hypertrophic pyloric stenosis (IHPS) remains obscure. Over 120 years after the condition has become a clinical entity the debate whether the cause of IHPS is genetic, environmental or both, has not yet reached a final conclusion. Herein, we present a pair of monozygotic male twins with IHPS together with a review of the literature. We aimed to support genetic pre-disposition in the epidemiology of IHPS, adding a twin data to the literature and to review the associated articles about the pathogenesis and inheritance patterns.

Cystic Meckel's diverticulum: A rare cause of cystic pelvic mass presenting with urinary symptoms.

An atypical form of Meckel's diverticulum is presented. A 5-year-old girl was admitted with recurrent urinary tract infections. Ultrasonography showed a cystic mass, which pressed and displaced the urinary bladder on its posterosuperior aspect. Laparotomy results showed a cystic mass originating from the antimesenteric border of the ileum, which was attached tightly to the urinary bladder. It was diagnosed as a cystic Meckel's diverticulum, which had undergone abscess formation with preservation of the ileal mucosa in some areas and had severe inflammatory changes on its wall. The case is unique both in the mode of presentation and type of complication. J Pediatr Surg 36:1855-1858.

Anterior abdominal wall malignant peripheral nerve sheath tumor in an infant.

Malignant peripheral nerve sheath tumors (MPNST), also known as malignant schwannomas, are highly malignant lesions that tend to arise in the head and neck region or on the extremities, and only rarely in the retroperitoneum. These tumors are not common in children. Almost 50% of cases are associated with neurofibromatosis. When these neoplasms arise in the retroperitoneum, they usually are difficult to diagnose and to treat. Although various radiologic imaging methods are helpful for identifying some features of the mass, definitive diagnosis requires histologic examination and immunohistochemical staining. After treatment, the tumor recurs in 25% of patients. Five-year survival rates as high as 80% have been reported. Total excision, lack of invasion of surrounding tissues and vessels, and absence of neurofibromatosis, are features associated with better outcome. The authors present the case of a 1-month-old boy who had malignant schwannoma diagnosed in a unique location over the peritoneum of the anterior abdomen. The location and rapid growth of the tumor permitted early identification and total excision. J Pediatr Surg 36:1866-1868.

The role of heterotopic gastric mucosa with or without colonization of Helicobacter pylori upon the diverse symptomatology of Meckel's diverticulum in children.

The roles of heterotopic gastric mucosa either with or without colonization of Helicobacter pylori (HP) upon the diverse symptomatology of Meckel's diverticulum (MD) in children have been evaluated retrospectively. The medical records of 92 patients who underwent MD excision either incidentally or symptomatically between 1976 and 1997 were reviewed retrospectively. Age at admission and symptoms were recorded. The slides were stained with hematoxylin eosin and Giemsa to identify the presence of heterotopic tissue, ulceration, hemorrhage, inflammation and HP. Bleeding, obstruction and inflammatory groups were statistically compared with chi-square test. The age of the patients ranged between 1 day and 14 years with a mean of 3.5+/-3.8 years. The male: female ratio was 3.6:1. Among 92 MD, 18 (19.5%) were remove incidentally, one of which had heterotopic gastric mucosa. The indications fo surgical removal of MD were intestinal obstruction, diverticulitis and bleeding in 45 (48.9%), 11 (11.9%) and 18 (19.5%) patients, respectively. Heterotopic gastric mucosa was detected in 28 (30.4%) patients, of whom 8, 3, and 16 presented with intestinal obstruction, diverticulitis and bleeding, respectively. Helicobacter pylori was not detected in one patient with incidental removal of MD; with heterotopic gastric mucosa however, three patients with obstruction, one patient with diverticulitis and one patient with bleeding had HP in the heterotopic gastric mucosa located in MD. MD may become symptomatic due to a complicated course such as rectal bleeding, intestinal obstruction or diverticulitis. The presence of heterotopic gastric mucosa in MD seems to mainly associate with rectal bleeding. The presence of HP colonization in heterotopic gastric mucosa does not increase the incidence of rectal bleeding. The other complications of MD, including intestinal obstruction and diverticulitis, are not directly related to the presence of heterotopic gastric mucosa in the MD. However, colonization of heterotopic gastric mucosa by HP seems to increase the incidence of these complications.

Sliding appendiceal inguinal hernia with a congenital fibrovascular band connecting the appendix vermiformis to the right testis.

It is not uncommon to find the appendix vermiformis within a hernia sac; however, sliding appendiceal inguinal hernia is rare. A 9-month-old boy with an incarcerated right scrotal hernia is presented in this case report. Although the hernia was reduced through a conservative approach, appendix vermiformis remained in the hernia sac because of its attachment to the upper pole of the right testis. Exploratory surgery during the inguinal hernia repair revealed a connecting band that extended from the appendix vermiformis into the scrotum and attached to the right testicle. Histologic examination showed that the band was congenital. After reduction of an incarcerated hernia, the persistence of a thickened or a cord-like structure is a warning for the presence of a sliding hernia. We suggest that this uncommon developmental anomaly is likely to cause the processus vaginalis to remain patent, thus facilitating hernia formation.

Mesenteric vascular occlusion resulting in intestinal necrosis in children.

PURPOSE: The records of 4 patients who had necrotic bowel secondary to acute mesenteric vascular occlusion affecting various levels of mesenteric vasculature were reviewed to determine the clinical manifestations, diagnostic investigations, predisposing factors, complications, and outcome of mesenteric vascular thrombosis in children. METHODS: The medical records of the patients (3 boys, 1 girl) treated between 1981 and 1996, inclusive, for bowel infarction secondary to mesenteric vascular thrombosis, were reviewed with regard to signs and symptoms, laboratory tests, radiological investigations, surgical findings, histopathologic examinations, and outcome. RESULTS: The ages of the patients ranged between 1 and 14 years with a mean age of 8.2 years. Initial symptoms, present in all patients, were abdominal pain, abdominal distension, and tenderness. Laboratory and radiological findings including abdominal radiographs and abdominal ultrasonography were nondiagnostic. Selective superior mesenteric angiography showed complete obliteration of the superior mesenteric artery with absence of venous return in 1 case. Three patients with massive intestinal necrosis died of multiorgan failure or the complications of short bowel syndrome. Histological examination of the resected intestinal segments showed the typical findings of polyarteritis nodosa in 2 patients. One patient had a previous history of right femoral vein thrombosis, whereas 1 patient had no known underlying disorders predisposing vascular thrombosis. CONCLUSIONS: Mesenteric vascular occlusion is a rare but serious disease leading to death in children. The patients present with similar clinical signs, most frequent and important are acute abdominal pain, vomiting, and distension. Mesenteric vascular occlusion is a rare cause of acute abdomen in childhood, which requires urgent diagnosis and intervention. In suspected mesenteric vascular insufficiency, angiography should be performed followed by intraarterial thrombolytic infusion therapy in selected cases. When intestinal infarction is suspected, immediate surgical resection of compromised bowel is necessary with appropriate postoperative anticoagulation or treatment of any underlying disease.

Polyarteritis nodosa involving the hepatobiliary system in an eight-year-old girl with a previous diagnosis of familial Mediterranean fever.

Polyarteritis nodosa (PAN) is a vasculitis of small- and medium-sized muscular arteries with deposition of immune complex in the vessel wall. Although gastrointestinal involvement is common, the symptomatic involvement of the hepatobiliary system is rare. An eight-year old female patient with a previous diagnosis of familial Mediterranean fever (FMF) was hospitalized for right upper quadrant pain and fever. The thickened gall bladder wall by ultrasonography, called for exploration. Histopathological evaluations of the liver biopsy and gall bladder revealed PAN. Corticosteroid therapy was initiated and the patient recovered fully. This case represents one of the rarest forms of PAN in childhood.

A rare coexistence of two gastric outlet obstructive lesions: infantile hypertrophic pyloric stenosis and organoaxial gastric volvulus.

Infantile pyloric stenosis is one of the most common conditions requiring surgery during the first few weeks of life. The association of infantile pyloric stenosis with gastric volvulus in an extremely uncommon occurrence. A 10-month-old male infant operated for infantile pyloric stenosis at two months of age is presented. His current problem was recurrent pulmonary infections and he was diagnosed to have organoaxial gastric volvulus and gastroesophageal reflux. The common features of presentation, radiological findings, surgical procedures and possible mechanisms of gastric volvulus associated with infantile pyloric stenosis are discussed.

Diagnostic difficulties in neuronal intestinal dysplasia and segmental colitis.

An 11-month-old girl with a prolonged history of bloody, mucoid diarrhea is presented. Although the initial diagnosis given by the rectosigmoid biopsy obtained during laparotomy was neuronal intestinal dysplasia, accompanying findings including mixed inflammatory cell infiltration of the mucosa and submucosa with mucosal ulcerations suggested nonspecific colitis. The subsequent biopsy specimen that was obtained after performing colostomy and treating with broad-spectrum antibiotics and rectal irrigations showed improvement in the structure of ganglion cells and submucous and myenteric plexuses. Although the mucosal ulcerations and inflammatory reaction improved, the colonic stricture persisted, so the Duhamel procedure was performed, and the patient had an uneventful outcome. It is claimed that inflammatory disease of the rectosigmoid colon of unknown etiology and neuronal intestinal dysplasia have occurred together in the current case or that one disease might cause the other in time.

Vaginal atresia and Bardet-Biedl syndrome association: a component or a distinct entity?

Bardet-Biedl syndrome is an autosomal recessive disorder. It is characterized by cardinal anomalies including retinal dystrophy, digital malformations, mental retardation, obesity, and hypogonadism. Recently, renal anomalies also are mentioned among the cardinal signs. Although association of genital anomalies among affected boys are well known, the association of vaginal atresia and other structural genital anomalies are not mentioned among the less-common manifestations of Bardet-Biedl syndrome in girls. Two girls with Bardet-Biedl syndrome presented with hematometrocolpos in the preadolescent period and vaginal atresia was diagnosed. After surgical treatment and extended hospitalization, uncontrolled sepsis resulted in progressive renal failure and death of both patients. Vaginal atresia is often delayed or missed in the early childhood period. In girls with Bardet-Biedl syndrome, vaginal atresia or other structural genital anomalies should be evaluated more systematically during the initial diagnosis of the syndrome. In infancy, the evaluation of a child with vaginal atresia also should include the differential diagnosis of Bardet-Biedl syndrome. Vaginal atresia may either form a component of the syndrome, or girls who present with vaginal atresia in addition to other components of Bardet-Biedl syndrome might form a distinct entity.

An uncommon association of H-type tracheoesophageal fistula with infantile hypertrophic pyloric stenosis.

Although infantile hypertrophic pyloric stenosis following esophageal atresia repair is known, infantile hypertrophic pyloric stenosis following H-type tracheoesophageal fistula has not been encountered previously. A case of H-type tracheoesophageal fistula and infantile hypertrophic pyloric stenosis is presented. The patient, operated on for H-type fistula, a rare congenital anomaly of the esophagus, on the tenth day of life was readmitted 19 days later because of continuous vomiting after every feeding. The clinical findings and physical and radiological examinations revealed infantile hypertrophic pyloric stenosis which required surgical treatment. It is suggested that the association of H-type tracheoesophageal fistula with infantile hypertrophic pyloric stenosis is coincidental, given the estimated incidence of one in every 84,375,000 males and 337,500,000 females.

Acute scrotum due to edidymo-orchitis associated with vasal anomalies in children with anorectal malformations.

Epididymo-orchitis, an uncommon cause of acute scrotum in prepubertal boys, is infection or inflammation of epididymis and testis. Epididymo-orchitis may be associated with urinary tract infections or reflux of urine predisposed by an underlying vasal anomaly. Two infants with anorectal malformations who presented with acute scrotum are reported. The surgical exploration of the testes showed findings consistent with epididymo-orchitis. Further radiological investigations of urinary tract showed vasal anomalies in both patients. If a patient with anorectal malformation presents with acute scrotum, epididymo-orchitis should be suspected initially. Evaluations should be directed toward defining predisposing vasal anomaly, and appropriate therapeutic measures should be undertaken to prevent recurrences.

The effects of vasodilatation and chemical sympathectomy on spermatogenesis after unilateral testicular torsion: a flow cytometric DNA analysis.

OBJECTIVE: To evaluate the effects of vasodilator therapies and chemical sympathectomy on ipsilateral and contralateral testicular spermatogenetic activity after unilateral testicular torsion using DNA flow cytometry and thus determine whether contralateral testicular damage occurs through a reflexively decreased blood flow. MATERIALS AND METHODS: The study comprised four groups of 20 rats each (groups 1-4) respectively receiving isotonic saline, verapamil, pentoxifylline and 6-hydroxy dopamine hydrobromide (6-OHD) intraperitoneally. Each group was further divided into two subgroups containing 10 rats which respectively underwent either a sham operation or 720 degrees clockwise torsion applied to the left testis. The testes were harvested after 24 h and the relative proportions of haploid, diploid and tetraploid cells determined by DNA flow cytometry for each testis. The proportion of haploid cells was used as an estimate of spermatogenesis. The mean proportions of haploid cells in the groups were compared using a one-way ANOVA and paired groups were compared using Student's t-test. RESULTS: The proportions of haploid cells in the ipsilateral testes of rats undergoing torsion were significantly lower than in their contralateral testes and in the ipsilateral testes of the control groups. In group 4 (6-OHD) the proportion of haploid cells in the contralateral testes was significantly higher than those in the other groups after unilateral testicular torsion, but significantly lower than those in groups 1 and 4 after a sham operation. After unilateral testicular torsion the haploid cell proportions of the contralateral tests of groups 1-3 were not significantly different from each other. CONCLUSIONS: Because the spermatogenetic activity in the contralateral testis is depressed within 24 h of ipsilateral testicular torsion, contralateral testicular damage is an acquired effect: 6-OHD offers some protection and thus the damage seems to result from the involvement of the sympathetic system.

Multiple atresias with extensive intraluminal calcifications in a newborn with cystic fibrosis.

A newborn patient with cystic fibrosis and multiple intestinal atresias demonstrated intraluminal calcifications on a plain abdominal radiograph. Cystic fibrosis may be an aetiological factor for intraluminal calcifications secondary to multiple intestinal atresias.

Splenic leiomyoma: an uncommon localization.

Muscle cell tumors are very uncommon in the spleen as they are in ataxia-telangiectasia. The increased frequency of chromosome breaks probably because of a defect in DNA repair favors the development of benign or malignant tumors in the patient. A case of leiomyoma of the spleen in an 8-year-old boy with ataxia-telangiectasia is reported. The literature on the splenic masses and the localization of leiomyoma is reviewed.

Umbilical polyp originating from urachal remnants.

Umbilical polyp is a rare disorder of the umbilical region in childhood. It is said to be the result of incomplete closure of the omphalomesenteric duct and presents as a red, moist umbilical mass after separation of the umbilical cord. Umbilical polyp originating from the urachus has not previously been reported. A 10-year-old boy with an umbilical polyp related to the urachus is presented to stress the possibility that umbilical polyps can originate not only from the omphalomesenteric duct but also from urachal remnants.

Increased risk of pyogenic liver abscess in children with Papillon-Lefevre syndrome.

Among 16 with pyogenic liver abscess, two were found to have Papillon-Lefevre syndrome. The two cases are reported herein. Bacteremia from involved periodontal tissues and a possible impaired immune response could indicate an increased risk of pyogenic liver abscess among children with Papillon-Lefevre syndrome.

Primary omental torsion in a 6-year-old girl.

The case of a 6-year-old girl who was admitted with abdominal pain and diagnosed to have primary omental torsion through laparatomy is presented. The presence of serosangineous fluid mimicking acute appendicitis but clinically not as bad as expected is suggested to raise the suspicion of primary omental torsion.