Limb body wall complex (LBWC) is characterized by multiple severe congenital malformations including an abdominal and/or thoracic wall defect covered by amnion, a short or absent umbilical cord with the placenta almost attached to the anterior fetal wall, intestinal malrotation, scoliosis, and lower extremity anomalies. There is no consensus about the etiology of LBWC and many cases with abnormal facial cleft do not meet the requirements for the true complex. We describe a series of four patients with LBWC and other malformations in an attempt to explain their etiology. There are several reports of fetuses with LBWC and absent gallbladder and one of our patients also had polysplenia. Absent gallbladder and polysplenia are associated with laterality genes including HOX, bFGF, transforming growth factor beta/activins/BMP4, WNT 1–8, and SHH. We postulate that this severe malformation may be due to abnormal genes involved in laterality and caudal development.
Introduction
Characterized by the development of hundreds to thousands of colonic
adenomas, classic familial adenomatous polyposis (FAP) is one of the most
common hereditary syndromes associated with an increased risk of colorectal
cancer. Several studies have attempted to correlate specific APC mutations
with clinical phenotype.6 However, there is considerable variability in the expression
of specific phenotypes within families and among individuals with identical
mutations.7
Case presentation
A 30 year-old Hispanic female presented to the emergency department with a
2-week history of persistent, worsening, left lower quadrant abdominal pain.
She had no family history of malignancy. Sigmoidoscopy revealed innumerable
polyps in the rectum and sigmoid colon and a large mass in the sigmoid
colon. Biopsy of the mass revealed a moderately differentiated
adenocarcinoma invading the subserosa. Endoscopy revealed innumerable
polyps. Genetic testing of the patient via southern blot revealed a germline
APC mutation 3927del5, resulting in a premature truncation of the APC
protein at amino acid position 1312.
Conclusion
Genetic information has only recently started being incorporated into
clinical care. More research and randomized clinical trials need to be
conducted to definitively characterize random mutations. Once these
mutations are further understood, FAP patients may be able to be risk
stratified and this may ultimately improve the screening, diagnosis, and
treatment of this rare condition.
The instigation of the Kasai procedure in infants who are born with biliary atresia has led to increased survival in this population for over half a century. The many complications that arise as a result of biliary atresia led to an early death for most patients. However, the Kasai procedure is not without its own impediments. Among them is the development of hepatocellular carcinoma. We present two cases of hepatocellular carcinoma, after Kasai procedure, from two different age groups, as a recommendation that these patients should be even more closely monitored. Furthermore, if they are in need of transplant, we recommend that the explanted livers be carefully examined, as the tumor may not have been diagnosed preoperatively.
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