CONGENITAL PHARYNGEAL POUCH FORMATION WITH HYPERPARATHYROIDISM.
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Congenital Abnormalities↗
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Major birth defects among infants with Down syndrome in Alexandria, Egypt (1995-2000): trends and risk factors.
We evaluated the hypothesis that the trisomy 21 genome interacts with environmental factors during early pregnancy to increase the risk for birth anomalies in Down syndrome infants in Alexandria, Egypt. A case-control study on 514 infants with confirmed Down syndrome was carried out from 1 July 1995 to 30 June 2000. Genetic, biological, environmental and reproductive factors were analysed. Multiple logistic regression analysis showed the following factors to be independently associated with increased risk of congenital heart diseases among Down syndrome patients: parental consanguinity, maternal parents' consanguinity, mother's antibiotics use in pregnancy, oral contraceptive use and diabetes in the mother. Fever in the mother during pregnancy was associated with increased risk of gastrointestinal anomalies.
Abnormalities, Multiple↗
[STOMACH SURGERY IN INFANTS AND SMALL CHILDREN].
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Child↗
[Rare case of innate obstruction of digestive tract diagnosed by USG examination of fetus in the 30th week of pregnancy].
The authors describe the case of a rare developmental fetal anomaly diagnosed in intrauterine life. Performed ultrasound examination in the 30th week of pregnancy showed in the area of the abdomen of the fetus three ampullar structures, so-called "triple ampulla symptom". These ampullas corresponded to the fetal stomach, the duodenum and a fragment of the small intestine. The suspicion of the innate obstruction of the intestine was confirmed after the birth of the fetus. An attempt of surgical treatment of the diagnosed abnormality was not successful. The child died in its 6th week of life.
Adult↗
[Congenital abnormalities of the diaphragm discovered long after birth (author's transl)].
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Adult↗
Sonographic borderlands in the fetal abdomen.
Ultrasonographic examination of the fetal abdomen is an integral part in all routine fetal sonograms and can provide significant information about the status and prognosis of the fetus. Although many types of fetal anomalies can be identified (i.e., gastroschisis, omphalocele, or congenital diaphragmatic hernia), there are several sonographic findings that are not clearly anomalous, but may be associated with poor fetal outcome. Echogenic fetal bowel, small or absent fetal stomach and fetal intra-abdominal calcifications all fall into this category. This article reviews the recent literature as it relates to these topics, including suggestions regarding the need for further action, and the types of further actions that are available to help identify abnormal fetuses and prevent unnecessary and/or invasive testing of normal ones.
Abdomen↗
Post-natal lethality and neurological and gastrointestinal defects in mice with targeted disruption of the A-Raf protein kinase gene.
The Ras/Raf/MEK/MAP kinase cascade transmits signals from activated cell-surface receptors to transcription factors in the nucleus and is an essential component of metazoan intracellular signaling pathways (see, for example, [1-6]). In the mouse, the Raf protein kinase family is comprised of three homologous genes, Raf-1, A-Raf and B-Raf [5] which are ubiquitously expressed in the developing embryo [7]. We have introduced into the mouse germ line a loss-of-function mutation in the X-chromosomal A-Raf gene, by homologous recombination in embryonic stem cells. On a predominantly C57 Bl/6 genetic background, A-Raf-deficient mice displayed neurological and intestinal abnormalities and died between 7 and 21 days post-partum. When the mutated allele was maintained on a predominantly 129/OLA background, by contrast, A-Raf-deficient animals survived to adulthood, did not display obvious intestinal abnormalities, were fertile, but did have a subset of the neurological defects.
Animals↗
Congenital anomalies of the small intestine, colon, and rectum.
Congenital anomalies of the gastrointestinal tract are a significant cause of morbidity in children and, less frequently, in adults. These abnormalities include developmental obstructive defects of the small intestine, anomalies of the colon, anomalies of rotation and fixation, anorectal anomalies, and intestinal duplications. Neonates with complete high intestinal obstruction do not usually require further radiologic evaluation following radiography, whereas those with complete low obstruction should undergo a contrast material enema examination. An upper gastrointestinal series must be performed in all patients with incomplete intestinal obstruction because management is different in each case. In low intestinal obstruction, ultrasonography (US) may help differentiate between small bowel obstruction and colonic obstruction. In addition, US can help correctly identify meconium ileus and meconium peritonitis and is useful in the diagnosis of enteric duplication cysts. In malrotation and anorectal anomalies, computed tomography (CT) and magnetic resonance (MR) imaging can provide superb anatomic detail and added diagnostic specificity. Intestinal duplications manifest as an abdominal mass at radiography, contrast enema examination, or US. At CT, most duplications manifest as smoothly rounded, fluid-filled cysts or tubular structures with thin, slightly enhancing walls. At MR imaging, the intracystic fluid has heterogeneous signal intensity on T1-weighted images and homogeneous high signal intensity on T2-weighted images. Familiarity with these gastrointestinal abnormalities is essential for correct diagnosis and appropriate management.
Colon↗
[Diagnosis of meconium ileus].
Meconium ileus represents a functional disorder mainly detected during the second trimester of gestation. The diagnosis can be recognized by bowel hyperechogenicity or by the pathologist after a systematic examination. It must lead to etiologic diagnosis and specific investigations according to the history. Even in absence of family history, cystic fibrosis must be considered with pancreatic study and with frozen fetal material in order to be able to search for the most common mutations. Meconium ileus can also be associated with infection, fetal blood swallowing, chromosomal aberrations and multiple fetal abnormalities. Only good investigations for specific diagnosis can lead to a genetic counsel and a good follow up of the next gestation.
Cystic Fibrosis↗
Unique anomalies in cephalothoracopagus janiceps conjoined twins with implications for multiple mechanisms in the abnormal embryogenesis.
The anatomic features of female conjoined twins with the Janiceps type of cephalothoracopagus are described. Abnormalities included bilateral clefts of the alveolar arches, shared rudimentary mandible, high, arched clavicles, multiple rib deformities, single shared foregut and small intestine, absent large intestines, omphalocele, multicystic kidneys, hypoplastic lungs, interconnected aortas and neck vessels, single ovary with elongated uterus in each twin, displaced labia, abnormal segmentation of the vertebrae, spinal dysraphism, diastasis of the symphysis pubis, malrotated lower extremity, bilateral posterior dislocation of the hips, and club feet. There were two hearts with internal anomalies. Both spinal cords had a myelocele in the lumbar region. The abnormalities noted in previous reports of conjoined twins of this type are reviewed and compared. We propose that factors associated with conjoining, dysgenetic (developmental) defects, and deformations resulting from crowding in utero all may have been important in the abnormal development in this case.
Digestive System Abnormalities↗
Ultrasonic and clinical aspects in the diagnosis and prognosis of congenital gastrointestinal anomalies.
The diagnostic and prognostic aspects were analyzed in 36 cases of congenital gastrointestinal tract anomalies. An abnormality was ultrasonically detected or strongly suspected in 53% of the cases, with the highest accuracy in the groups of omphalocele and duodenal atresia and with the lowest detection rate in diaphragmatic hernia and oesophageal atresia. Polyhydramnion was present in 47% of the cases. The high rate of total fetal and neonatal loss (70%) was mainly attributed to associated multiple anomalies of the fetus (66%). The frequency of chromosomal abnormalities was 39%. Our results reflect the complexity of the practical problems associated with the diagnosis and management of fetal gastrointestinal anomalies.
Abdominal Muscles↗
Antenatal sonographic diagnosis of fetal gastrointestinal malformations.
Fetal gastrointestinal abnormalities are readily detected by ultrasonography. The presentation, management, and outcome of 17 cases of fetal gastrointestinal and associated anomalies are presented. Antenatal knowledge of these abnormalities can potentially decrease neonatal morbidity and mortality because the appropriate preparations can be made in advance of delivery.
Adult↗
Development of the pelvic floor muscles of murine embryos with anorectal malformations.
BACKGROUND/PURPOSE: Recent biological studies have elucidated the molecular mechanism of muscle development, in which various regulatory molecules play key roles during embryogenesis. To determine possible myogenic abnormalities in anorectal malformations (ARM), the authors investigated the pelvic muscle development in murine embryos affected with ARM. METHODS: ARM embryos were induced by all-trans retinoic acid (ATRA) on the ninth gestational day (E9.0). Embryonal specimens were obtained from the uteri between E10.5 and E16.0, and the frozen sections were prepared for immunohistochemistry using antibodies specific for MyoD, myogenin, and PGP9.5 molecules. RESULTS: In ARM embryos, the neural tube was irregularly branched and formed an anomalous mass in the sacral region. Embryonal caudal somites differentiated into myogenic cells to form proper myotubes in the pelvis corresponding to the developmental stages between E12.5 and E15.0 both in affected embryos and the controls. CONCLUSIONS: In ARM embryos, an impaired anatomic framework of the pelvis was caused by neural maldevelopment, whereas muscle development proceeded physiologically. These results support the hypothesis that pelvic floor muscles may function in ARM children, in whom neural abnormalities such as meningomyelocele or tethered spinal cord have been ruled out, if the surgical correction is appropriately completed.
Anal Canal↗
Evidence that the notochord may be pivotal in the development of sacral and anorectal malformations.
BACKGROUND/PURPOSE: The notochord is known to organize normal development of central axial structures, such as the spinal cord, vertebral column, and anorectum, but its role in abnormal development of these organs has not been well documented. The current study has used Ethylenethiourea to induce anorectal malformations in fetal rats, allowing investigation of abnormalities of the notochord and their relationship to the axial structural abnormalities that occur. METHODS: Timed-mated pregnant rats were fed Ethylenethiourea by gavage on gestational day 10. Their embryos were harvested on gestational days 13 to 16 and sectioned in either the transverse or sagittal plane. Sections were stained with H and E and examined serially. RESULTS: Anorectal malformations were identified in 29 of 34 embryos and neural tube defects in 24, ranging from an accessory neural tube to lumbo-sacral rachischisis. There was no tail or only a rudimentary tail in the majority of embryos. Abnormalities of the notochord in the lumbo-sacral area included ventro-dorsal branching, ventral deviation, and ectopic notochordal tissue. Most abnormal notochord branches and ectopic notochordal tissue were abnormally close to or in contact with the wall of the cloaca or neural tube. CONCLUSIONS: Given the known role of the notochord in controlling normal development, this study would suggest that abnormal notochord development may be pivotal in producing neural tube defects and anorectal malformations, possibly by altering sonic hedgehog signalling.
Anal Canal↗
Preoperative enzymo-histochemical diagnosis of dysganglionoses associated with anorectal malformations (ARM) with recto-vestibular and recto-perineal fistula.
The posterior sagittal anorectoplasty (PSARP) is widely recognized as the best technique available today for the surgical treatment of anorectal malformations (ARM). However, different retrospective studies on the functional results of PSARP in the treatment of ARM have shown different postoperative degrees of constipation. In particular, even in patients with normal sacrum, about 70% of operated ARM with vestibular fistula and about 50% with perineal fistula can be complicated by fecal constipation and pseudoincontinence. In order to identify preoperatively whether ARM patients present abnormal innervation patterns of rectal pouch and fistula (as reported by Holschneider et al [7]), we decided to study suction rectal biopsies performed by introducing SBT-100 rectal suction biopsy tool into the fistula at 6, 4, 3 and 2 cm from the meatus. To date, this approach has been adopted in 22 ARM cases (15 females and 7 males, age range 7 days-4 years), 6 of them with recto-vestibular fistula and 13 with recto-perineal fistula. Biopsies were frozen in isopentane at liquid nitrogen temperature and cryostatic sections were studied by acetylcholinesterase (AChE), succinic-dehydrogenase (SDH) and alpha-naphthyl-esterase (ANE) enzymo-histochemical techniques. The results concerning the innervation-type of fistula and proximal rectal pouch were confirmed by the biopsies obtained during PSARP. Our overall incidence of rectal innervation intrinsic disorders was 81.82%. In particular, all our cases of vestibular fistula presented associated dysganglionoses. The incidence of associated Hirschsprung's disease was high, corresponding to 18% of cases. Our results suggest that the high frequency of constipation in low forms of ARMS depends on primary intestinal neuronal malformations and it cannot be ascribed to a denervation secondary to rectal dissection and to PSARP procedure. We propose the introduction of this type of preoperative enzymo-histochemical diagnosis in ARM cases because it can select those patients with severe associated dysganglionoses. In our opinion, if this diagnosis is available preoperatively, PSARP can be performed without using abnormally innervated structures and reducing postoperative functional complications.
Anal Canal↗
MRI of the gastrointestinal tract.
This article reviews the application of magnetic resonance imaging (MRI) to study the gastrointestinal (GI) tract. A summary of the current MRI techniques is included, emphasizing the choice of pulsing sequences, imaging plane, surface coils and intravenous and oral contrast agents for each of the different segments of the GI tract. The multiple available oral contrast agents are reviewed, including the role of both positive and negative. Finally, the major clinical applications of MRI in the GI tract are discussed by major disease categories (congenital abnormalities, inflammatory disease and benign and malignant neoplasms). The latter is further subdivided by GI tract segments such as esophagus, stomach, small bowel and colon.
Contrast Media↗
Disorders of the fetal thorax and abdomen.
Many disorders of the fetal thorax and abdomen can be evaluated using ultrasound. Even when a definitive diagnosis cannot be made prenatally, sonography can provide valuable clinical information regarding the nature and location of the abnormality, associated anomalies, and the presence of secondary complications. An awareness of these disorders and their sonographic appearance is important to impact upon obstetrical management and overall prognosis.
Digestive System Abnormalities↗
Foregut duplications.
Twenty-one children were treated for foregut duplications at the Royal Hospital for Sick Children over a 42-year period. There were 11 males and 10 females. The mean age at diagnosis was 1 year 6 months; antenatal diagnosis was made in 1 case. Respiratory and gastrointestinal (GI) presentation predominated. The diagnosis was made by chest radiograph (10), barium swallow (5), at operation (4), and by ultrasound (2). All patients were treated surgically; the mortality was 10%. The histology of the epithelial lining of the duplications revealed gastric mucosa in 15 cases; in 5 the duplication cyst was lined by more than one cell type. Nine patients had other associated congenital anomalies, the majority of these were vertebral abnormalities. The size of this series emphasises that clinicians should be aware that duplication cysts occur and should be considered in a child with unusual respiratory or GI symptoms.
Child↗