PubMed · 15728949
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Kathleen Dracup, Christopher W Bryan-Brown. 2005. First, do no harm.. https://pubmed.ncbi.nlm.nih.gov/15728949/
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Smith-Lemli-Opitz syndrome (SLOS) is a syndrome of rare multiple congenital anomalies/mental retardation associated with low plasma cholesterol levels. Prior to receiving the diagnosis of SLOS, affected children may present as a neonatal surgical emergency with ambiguous genitalia, Hirschsprung's disease, and pyloric stenosis. We present two fatal cases of SLOS with near-total Hirschsprung's disease; the surgical, anaesthetic, and medical aspects of the cases are discussed, and a literature review is presented.
The prognosis for children with Wilms' tumor is reported to be excellent in those who are less than 2 years of age at diagnosis and who have a stage I/favorable-histology tumor with specimen weight less than 550 g. We report on a patient with Wilms' tumor who belonged to this group but who developed pulmonary metastases, and we discuss the diagnostic and therapeutic problems in such patients. The importance of careful evaluation of the renal sinus should be emphasized.
We report here an interesting unique case of total loss of small bowel in the absence of associated malrotation or gastroschisis. Total loss of small bowel, acquired in utero in the absence of associated anomalies such as malrotation or gastroschisis, has not been previously reported. Several reports of congenital short bowel exist. However, this uncommon finding is typically associated with malrotation. Babies with this condition often present with functional intestinal obstruction. Several cases in which infarction of gastroschisis and autolysis of the bowel, followed by in utero resolution of the abdominal wall defect, have been reported as a cause of congenital absence of the small bowel. We present here the first report, to our knowledge, of an infant with total absence of the small bowel without gastroschisis or malrotation.