There are many causes of intestinal obstruction in the neonatal age. The most common types are mechanical and result from congenital malformations of the gastrointestinal tract. However, functional disorders also occur. In some cases, diagnosis can be made prenatally but in others manifestation occurs after birth. The aim of this article is to present the case of a newborn with intestinal obstruction characterized by microcolon, dilated small bowel and megacystis known as Megacystis-Microcolon-Intestinal Hypoperistalsis syndrome, a very rare cause of intestinal obstruction. So far, less than three hundred cases have been reported in the literature. The prognosis of this syndrome is generally poor with most affected children dying in the neonatal period or infancy. Intestinal obstruction is a serious and life threatening condition. It may be explained by gross anatomical, histological or other abnormalities affecting the gut of the fetus. 1 Differential diagnosis may also take into account various anatomical, histological, or other abnormalities that may result in the obstruction of gut. 1 The incidence of intestinal
Rare cause of post-squalene disorder of cholesterol biosynthesis Acetyl-CoA units are converted to mevalonate by a series of reactions. Mevalonate is formed on squalene and then lanosterol. Lanosterol is converted by two different pathways, either with the creation of 7-dehydrocholesterol, or desmosterol with the creation of cholesterol. Errors of cholesterol biosynthesis represent a heterogeneous group of metabolic disorders that is c h a r a c t e r i z e d b y m u l t i p l e dysmorphic features underlining an important role for cholesterol in h u m a n e m b r y o g e n e s i s a n d development. The differential diagnosis of atypical findings on the skin in newborn may be the result of d i s o r d e r o f c h o l e s t e r o l biosynthesis. It may be also associated with various dysmorphic features or anomalies including multiple anomalies of congenital and internal organs and skeletal abnormalities. Some of the postsqualene disorders may point to atypical findings on the skin in the form of psoriatic eruptions, psychomotoric delay or laboratory findings as hypocholesterolemia. newborn; hypocholesterolemia; stigma; chondrodysplasia punctata; ichthyosiform erythroderma 2 3 4
scite is a Brooklyn-based organization that helps researchers better discover and understand research articles through Smart Citations–citations that display the context of the citation and describe whether the article provides supporting or contrasting evidence. scite is used by students and researchers from around the world and is funded in part by the National Science Foundation and the National Institute on Drug Abuse of the National Institutes of Health.
hi@scite.ai
10624 S. Eastern Ave., Ste. A-614
Henderson, NV 89052, USA
Copyright © 2024 scite LLC. All rights reserved.
Made with 💙 for researchers
Part of the Research Solutions Family.