Journal info
|
||||
Select Journal
Journals
Bratislava Medical Journal 2024 Ahead of print 2023 2022 2021 2020 2019 2018 2017 2016 2015 2014 2013 2012 Endocrine Regulations General Physiology and Biophysics Neoplasma Acta Virologica Studia Psychologica Cardiology Letters Psychológia a patopsych. dieťaťa Kovove Materialy-Metallic Materials Slovenská hudbaWebshop Cart
Your Cart is currently empty.
Info: Your browser does not accept cookies. To put products into your cart and purchase them you need to enable cookies.
Bratislava Medical Journal Vol.116, No.11, p.640–647, 2015 |
||
Title: An embryological point of view on associated congenital anomalies of children with Hirschsprung disease | ||
Author: T. Slavikova, L. Zabojnikova, J. Babala, I. Varga | ||
Abstract: The most common congenital gut motility disorder is the Hirschsprung disease (HSCR). This anomaly is characterized by absence of neural crest-derived enteric neuronal ganglia. The aim of our study was to analyze the relationship between HSCR and other congenital anomalies or malfunctions. We examined 130 patients with Hirschsprung disease from Slovakia for last 10 years. During patients examination we focused not only on morphological abnormalities, but also functional anomalies. The incidence of associated congenital anomalies in our patients with HSCR was 26.1 %. But if we add functional defects (hypothyroidism, malfunction in cellular immunity, neurological deficit) to the morphological congenital abnormalities, the rate of the patients with HSCR with additional defects achieves 50.1 %. Nine of our patients (6.9 %) had syndromic HSCR. The most frequent disorder (13.6 % of patients) was primary deficiency in cellular immunity. More than 12.3 % of patients with HSCR had genitourinary abnormalities, in 10.0 % of patients variable degree of psychomotor retardation was observed, and skeletal, muscle and limb anomalies involved 7.7 % of patients. In 7.6 % cases of patients we found congenital hypothyroidism (including 2 cases of agenesis of thyroid gland). More than 6.1 % of patients presented with an associated anomaly in gastrointestinal tract (mostly anorectal malformations). Up to 5.5 % patients had congenital anomaly of heart, 3.8 % had ophthalmic and 3.1 % had craniofacial anomalies. Down syndrome was the main diagnosis in 3.8 % patients. We discussed the relationship between HSCR and other anomalies, which are probably caused by abnormal migration, proliferation, or differentiation, of neural crest cells during embryogenesis (Tab. 1, Fig. 2, Ref. 75). |
||
Keywords: Hirschsprung disease, impaired cellular immunity, genitourinary abnormalities, neurological deficiency, hypothyroidism, cardiac abnormalities, Down syndrome. | ||
Published online: 25-Nov-2015 | ||
Year: 2015, Volume: 116, Issue: 11 | Page From: 640, Page To: 647 | |
doi:10.4149/BLL_2015_126 |
||
|
![]() |
|