Rules for the diagnosis of visceral situs, truncoconal morphologies, and ventricular inversions.
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The usefulness of ultrasonography in detecting fetuses with Down syndrome in the second trimester has been the subject of considerable debate during the past 3 years. Conflicting reports have led to increasing confusion about the subject in the medical community and among the public. A review of the existing literature indicates that structural malformations that are chiefly cardiac are present in half of Down syndrome fetuses but are not consistently found during routine second-trimester ultrasonography. Although excess posterior nuchal skin-fold thickness is frequently present in infants with Down syndrome, it is also not consistently identified during second-trimester ultrasonographic examinations. Studies evaluating the efficacy of screening programs that are based on femur length shortening associated with Down syndrome have revealed markedly discrepant intercenter results. Although variations in methods may account for some of the observed variability, the magnitude of femoral shortening in Down syndrome suggests that this measurement may be only marginally useful. In summary, antenatal ultrasonography will allow for the detection of only those fetuses with Down syndrome who have multiple characteristic phenotypic features or anomalies. Moreover, current second-trimester ultrasonography does not appear to be either sensitive enough specific enough to be used as a unique Down syndrome screening modality; however, it may be a useful adjunct to maternal age and serum biochemical markers in the assignment of risk for Down syndrome.
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Appendiceal anomalies are extremely rare malformations. The authors present a type of appendiceal triplication not previously described in an adult patient with review of the literature. Microscopic examination of postappendectomy specimen revealed acute perforative appendicitis associated with formation of three separate appendiceal lumina.
Foetal anomalies of the digestive tract are numerous and dominated by malformations, the prognosis of which may be severe. Antenatal diagnosis of these anomalies allows a better management of neonates. It is known since about 20 years, a major development because of the progress realized in the field of foetal imaging. Ultrasonography, which is the best imaging modality, can be joined by MRI if necessary. The objective of this study is to evaluate the contribution of imaging in prenatal diagnosis of digestive anomalies, throughout a review of literature.
Annular pancreas is a congenital anomaly resulting from malrotation of the pancreatic ventral bud. Although annular pancreas in the adult is rare, it may be recognized with increased frequency as a result of more liberal use of pancreatic imaging studies in patients with chronic abdominal pain and suspected chronic pancreatitis. Malignancy in the setting of annular pancreas is an uncommon event that has been reported previously but has almost always been related to the annular (ventral) segment. We report an interesting case in which pancreatic adenocarcinoma diffusely involving the dorsal (nonannular) segment presented in a middle-aged female patient. This unusual presentation points out the importance of considering neoplasia as part of the differential diagnosis and the possibility of pancreatic pathology in the dorsal, nonannular segment when there is no obvious duodenal or biliary obstruction involving the annular ventral segment.
An abdominal mass was identified upon palpation of the abdomen in a normal, asymptomatic, 1-year-old female domestic shorthair cat presented for elective ovariohysterectomy. Radiographic and ultrasound examinations demonstrated a well-circumscribed caudal abdominal mass. Ultrasound guided needle aspiration cytology was consistent with an accumulation of squamous epithelial cells. The mass was associated with the jejunum and was excised via resection anastomosis of the intestinal segment after ovariohysterectomy. Histologic examination provided the diagnosis of an intestinal duplication lined with epithelium typical of that in the esophagus. The cat recovered without complications.
PURPOSE: The aim of this study was to evaluate delayed elective resection of antenatally detected enteric duplication cysts. METHODS: A retrospective casenote study of intraabdominal cysts detected antenatally between January 1991 and January 2002 found 37 fetuses with cysts. Twelve were enteric duplications. Two were duodenal, 1 was an 85-cm tubular jejunoileal duplication, and 9 were ileocecal. Asymptomatic cysts were followed with serial ultrasound scars and resected electively over 14 months. RESULTS: Three neonates had small bowel obstruction demanding laparotomy: 1 of the 2 infants with duodenal duplication cysts, 1 infant with an ileocecal duplication, and the infant with the tubular duplication. One with an ileocecal duplication became symptomatic at 2 months and underwent a laparotomy. Seven had their duplications resected electively between 6 weeks and 14 months, and the other is still being followed. Four of the 7 asymptomatic duplications electively resected contained gastric mucosa. CONCLUSIONS: Intraabdominal enteric duplication cysts are increasingly likely to be detected antenatally. The majority are likely to remain asymptomatic for several months at least, after which a resection can be planned. The prevalence of gastric mucosa suggests that they should not be left indefinitely. Laparoscopically assisted resection of ileocecal duplications is safe and effective.
BACKGROUND/PURPOSE: Anorectal malformations occur in 1 per 4,000 live births and represent a surgical challenge. Although critically important, the basic mechanisms of normal anorectal union are incompletely understood. Fgf10 signaling is known to serve a key role in mesenchymal/epithelial interactions in many organ systems including the gastrointestinal tract (GIT). The authors therefore hypothesized that Fgf10 signaling has a central role in normal anorectal development. METHODS: Fgf10 expression in wild-type (Wt) embryos was evaluated using whole-mount in situ hybridization. Wt and Fgf10-/- embryos were harvested from timed pregnant mothers at E12.5 through E17.5 and were analyzed for anorectal phenotype. RESULTS: Wt development of union between anorectal structures is completed between E12.5 and E13.5 with luminal communication between distal rectal epithelium and anus. Fgf10 is discretely expressed at E12.5 in the distal rectum. Fgf10-/- mutants show failure of union of the rectum and anus at an early stage (E13.5) and near term (E17.5). CONCLUSIONS: Fgf10 is expressed in the rectum at the time when anorectal continuity is established, indicating a role in normal anorectal development. Fgf10 invalidation (Fgf10-/- mutant) results in a genetically reproducible anorectal malformation phenotype. Fgf10 function is critical for normal anorectal development.