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PubMed2002

Clinical aspects of intestinal neuronal dysplasia.

PURPOSE: The aim of this study was to determine the presence of specific clinical symptoms in intestinal neuronal dysplasia (IND) and whether it correlates to the severity of histopathologic findings. METHODS: A group of 44 severe IND and a group of 16 mild IND patients diagnosed by means of a histochemical rectal biopsy were compared with a group of 37 patients with functional constipation (FC) with normal rectal biopsy results. RESULTS: Patients with severe IND began their symptoms at an earlier age than those with mild IND and FC (5.2 +/- 112 months v 17.5 +/- 23 months and 22.5 +/- 21.8 months, respectively; P <.001). The presence of intestinal obstruction symptoms was more frequent in severe IND patients than in mild IND and FC patients (45.5% v 18.8% v 2.7%, respectively; P <.001). The presence of a fecaloma and soiling were less frequent in the severe IND group than in mild IND and FC groups (20.5% v 56.3% v 59.5%, respectively; P <.001 and 15.9% v 31.3% v 59.5%, respectively; P <.001). Barium enema results showed a lower incidence of rectosigmoid distension in severe IND if compared with mild IND and FC groups (45.5% v 57.1% v 96.9%; P <.001). Internal sphincter relaxation was absent frequently in the severe IND group compared with the FC group (47% v 26.9%, respectively; P <.05). CONCLUSIONS: Intestinal neuronal dysplasia is a distinct histopathologic and clinical entity. Its clinical, radiologic, and manometric presentation correlates to the severity of histochemical findings.

Biopsy↗
PubMed2004

Alimentary tract duplications in children: high incidence of associated anomalies.

BACKGROUND: Alimentary tract duplications (ATDs) are rare congenital anomalies affecting about 1 in 4500 newborns with a male/female ratio of 1.2 : 1. The presence of associated, sometimes complex congenital anomalies can pose a challenge to surgeons treating patients with ATDs. The aim of this work was to study the characteristics of ATDs and associated anomalies in our patients. METHODS: Retrospective study. Medical charts of 24 patients (7 males, 17 females) diagnosed with ATD during the years 1990 - 2001 at the Department of Paediatric Surgery, Motol Children's Hospital in Prague, Czech Republic were reviewed. RESULTS: Sixteen patients (67 %) were diagnosed at ages younger than 3 years. Eight cases were foregut duplications, 9 were midgut, and 7 hindgut anomalies. In 13 patients (54 %) associated malformations were documented. Eight patients (33 %) developed postoperative complications, 1 patient died. Complications were more frequent in the group of patients with associated anomalies (53 % vs. 9 %). CONCLUSIONS: Associated congenital malformations are frequently present in patients with ATDs. The complexity of the surgical repair of these anomalies may contribute to higher morbidity and mortality rates. A thorough examination to identify and characterise the presence of ATDs and associated congenital defects would provide appropriate diagnostic and surgical approaches for these patients.

Abdominal Pain↗
PubMed2005

Annular pancreas in two consecutive siblings: an extremely rare case.

Annular pancreas is the rare congenital anomaly where the pancreas forms a full or incomplete ring around the second segment of the duodenum, causing various degrees of stenosis or atresia. It is estimated that it appears in 1 out of 12 000-15 000 births of living neonates and until now, in the literature, only 6 cases have been reported among individuals of the same family. We present the case of two siblings, a boy and a girl, with annular pancreas from consecutive pregnancies of the same couple. Both neonates had a prenatal diagnosis of duodenal obstruction and they underwent duodenoduodenal, proximal transverse to distal longitudinal anastomosis. Furthermore, the girl had a mobile ascending colon. Their postoperative condition was perfect. The case we are reporting is an addition to the other 6 cases of familial presentation of annular pancreas and is similar to one of them. In these families, a total of 16 persons present this congenital anomaly while 14 are seemingly healthy. Twelve of the affected persons are female and 4 male. In conclusion, it can be stated that female individuals seem to have a greater propensity to transmit the disease to their descendants, compared to males, suggesting the possible action of an autosomal recessive sex-influenced gene. The recording of such rare family cases should be encouraged, in order to fully recognize a possible type of inherited transmission.

Anastomosis, Surgical↗
PubMed2006

Prenatal diagnosis of gastric triplication.

Duplications of the intestinal tract are rare malformations, and triplications are even less common; only two cases are found in the literature. The authors describe a case of prenatal diagnosis of a gastric triplication and the surgical treatment.

Adult↗
PubMed1986

Histopathological investigation of duplications of the alimentary tract.

Lack of information on the morbid anatomy of duplications of the alimentary tract stimulated an evaluation of patients with such duplications seen at the Sophia Children's Hospital, Rotterdam, from 1970 to 1984. There were 14 patients in all, involving 2 foregut, 6 midgut, and 4 hindgut duplications. Resected material of 12 of these patients has been investigated with particular emphasis on the presence of nervous tissue in these duplications. Routine histological as well as histochemical staining procedures have revealed nervous tissue in practically all duplications investigated. Considering the findings reported in the literature with reference to the earliest manifestation of nerve cells throughout the alimentary tract, the results demonstrate that duplications occur well before the 12th week of gestation.

Autonomic Nervous System↗
PubMed1981

Catamnestic investigations in children with malformations of the gastrointestinal tract and the abdominal wall.

Catamnestic investigations were performed in 288 children with malformations of the gastrointestinal tract and the abdominal wall, among them 41 with oesophageal atresia, 41 with stenosis/atresia of the small and large bowel, 78 with anorectal malformations, 75 with Hirschsprung's disease, 28 with omphalocele and 25 with gastroschisis. In atresias/stenoses of the gastrointestinal tract both sexes were equally affected whereas boys were significantly more often affected in both Hirschsprung's disease (p 0.0005) and omphalocele/gastroschisis (p 0.05). The babies were more frequently preterm (p 0.025) than it was the case in controls. Parental age was not higher than the average parental age at time of delivery. Incidence of malformations was significantly higher in the relatives of our patients than in the average population and reached 20% (p 0.0005) in relatives of children with omphalocele/gastroschisis. Teratogenic effects of alcohol, diseases, X-rays and drugs during pregnancy could be suspected in several instances, whereas adverse effects of smoking, previous abortions and cycle disorders before pregnancy could not be established.

Abdominal Muscles↗
PubMed1992

Plasma concentrations of fat-soluble vitamins A and E in neonates with myelomeningocele.

A group of newborn infants with myelomeningocele was compared with a group of neonates suffering from gastrointestinal malformations and a group of healthy children less than one year of age. The parameters studied were prealbumin, retinol-binding protein and the fat-soluble vitamins A and E. There were no significant differences between the groups in the plasma levels of the proteins or vitamin E. Vitamin A levels in newborn infants with myelomeningocele were found to be significantly lower compared to both the other groups.

Digestive System Abnormalities↗
PubMed2000

Multiple functional defects in peripheral autonomic organs in mice lacking muscarinic acetylcholine receptor gene for the M3 subtype.

Muscarinic acetylcholine receptors consist of five distinct subtypes and have been important targets for drug development. In the periphery, muscarinic acetylcholine receptors mediate cholinergic signals to autonomic organs, but specific physiological functions of each subtype remain poorly elucidated. Here, we have constructed and analyzed mutant mice lacking the M(3) receptor and have demonstrated that this subtype plays key roles in salivary secretion, pupillary constriction, and bladder detrusor contractions. However, M(3)-mediated signals in digestive and reproductive organs are dispensable, likely because of redundant mechanisms through other muscarinic acetylcholine receptor subtypes or other mediators. In addition, we have found prominent urinary retention only in the male, which indicates a considerable sex difference in the micturition mechanism. Accordingly, this mutant mouse should provide a useful animal model for investigation of human diseases that are affected in the peripheral cholinergic functions.

Animals↗
PubMed2003

Hypoplasia of the right hepatic lobe combined with a floating gallbladder.

Agenesis or hypoplasia of the right hepatic lobe combined with a floating gallbladder is an extremely rare condition. We report a case of hypoplasia of the right hepatic lobe, discovered in a 65-year old female. This was an incidental finding at CT scan for staging of a right colonic cancer. The CT evidenced the presence of a hypoplastic right lobe, while the left lobe was diffusely enlarged. Furthermore, the gallbladder was described as floating with partially calcified walls. The diagnosis of this rare anomaly was confirmed intraoperatively. The patient underwent right hemicolectomy and cholecystectomy. Biopsies were taken from both right and left hepatic lobes, revealing the presence of normal hepatic parenchyma. Since all causes of acquired atrophy of the liver had been ruled out, we considered this case to be of congenital origin.

Cholecystectomy↗
PubMed2006

Delays in the diagnosis of anorectal malformations are common and significantly increase serious early complications.

AIM: To clarify the extent of delayed diagnosis of anorectal malformations and the consequences of delaying this diagnosis. METHODS: We performed a retrospective case review of all neonatal admissions with an anorectal malformation to a tertiary paediatric surgery unit. A delayed diagnosis was considered to be one made 24 h or more after birth. RESULTS: 75 patients were included in the study group: 31 (42%) had a delay in the diagnosis; 44 (58%) had no delay in the diagnosis. The time of diagnosis where a delay had occurred ranged from 2-16 (median 2) d. A delay in diagnosis could not be accounted for by differences in age, sex, birthweight, gestational age, the severity or visibility of the lesion, the need for neonatal special or intensive care, or the presence of other anomalies. There were significantly more complications (including one death) amongst the group of children who had a delay in the diagnosis of an anorectal malformation. There was no significant difference in long-term functional outcome. CONCLUSION: Delays in the diagnosis of anorectal malformations are much more common than previously thought. A delay in diagnosis significantly increases the risk of serious early complications and death.

Anal Canal↗
PubMed1998

Novel ITGB4 mutations in lethal and nonlethal variants of epidermolysis bullosa with pyloric atresia: missense versus nonsense.

Epidermolysis bullosa with pyloric atresia (EB-PA), an autosomal recessive genodermatosis, manifests with neonatal cutaneous blistering associated with congenital pyloric atresia. The disease is frequently lethal, but nonlethal cases have also been reported. Expression of the alpha6 beta4 integrin is altered at the dermal-epidermal basement-membrane zone; recently, mutations in the corresponding genes (ITGA6 and ITGB4) have been disclosed in a limited number of patients, premature termination codons in both alleles being characteristic of lethal variants. In this study, we have examined the molecular basis of EB-PA in five families, two of them with lethal and three of them with nonlethal variants of the disease. Mutation analysis disclosed novel lesions in both ITGB4 alleles of each proband. One of the patients with lethal EB-PA was a compound heterozygote for premature termination-codon mutations (C738X/4791delCA), whereas the other patient with a lethal variant was homozygous for a missense mutation involving a cysteine residue (C61Y). The three nonlethal cases had missense mutations in both alleles (C562R/C562R, R1281W/R252C, and R1281W/R1281W). Immunofluorescence staining of skin in two of the nonlethal patients and in one of the lethal cases was positive, yet attenuated, for alpha6 and beta4 integrins. These results confirm that ITGB4 mutations underlie EB-PA and show that missense mutations may lead to nonlethal phenotypes.

Antigens, CD↗
PubMed2003

Deficiencies in C20 polyunsaturated fatty acids cause behavioral and developmental defects in Caenorhabditis elegans fat-3 mutants.

Arachidonic acid and other long-chain polyunsaturated fatty acids (PUFAs) are important structural components of membranes and are implicated in diverse signaling pathways. The Delta6 desaturation of linoleic and linolenic acids is the rate-limiting step in the synthesis of these molecules. C. elegans fat-3 mutants lack Delta6 desaturase activity and fail to produce C20 PUFAs. We examined these mutants and found that development and behavior were affected as a consequence of C20 PUFA deficiency. While fat-3 mutants are viable, they grow slowly, display considerably less spontaneous movement, have an altered body shape, and produce fewer progeny than do wild type. In addition, the timing of an ultradian rhythm, the defecation cycle, is lengthened compared to wild type. Since all these defects can be ameliorated by supplementing the nematode diet with gamma-linolenic acid or C20 PUFAs of either the n6 or the n3 series, we can establish a causal link between fatty acid deficiency and phenotype. Similar epidermal tissue defects and slow growth are hallmarks of human fatty acid deficiency.

Animals↗