Congenital central hypoventilation syndrome is a disorder of respiratory control caused by mutations in the paired-like homeobox 2B gene. Mutations in the paired-like homeobox 2B gene are also responsible for Hirschsprung's disease. Variant Hirschsprung's disease is a rarer disorder that does not meet the diagnostic criteria of Hirschsprung's disease, although severe functional bowel obstruction persists. We present a case of an extremely low birth weight infant with congenital central hypoventilation syndrome and variant Hirschsprung's disease. A male infant who was diagnosed to have fetal growth restriction and polyhydramnios was delivered by emergency cesarean section at 30 weeks and 3 days of gestational age due to non-reassuring fetal status. The birth weight was 979 g, and intensive care was started immediately following delivery. The patient exhibited refractory apnea and was diagnosed with congenital central hypoventilation syndrome by genetic testing of the paired-like homeobox 2B gene. The patient also exhibited refractory functional bowel obstruction and was diagnosed to have variant Hirschsprung's disease through pathological examination of his intestinal specimens. The patient grew slowly but surely with intensive care including mechanical ventilation and parenteral nutrition. However, the patient repeatedly suffered from sepsis and died of fungemia at 197 days of age. This is the first congenital central hypoventilation syndrome case that was accompanied with variant Hirschsprung's disease, and the paired-like homeobox 2B mutation detected in this case (NM_003924.3: c.441G > C; p.(Gln147His)) is novel. This case suggests that the paired-like homeobox 2B mutation causes not only congenital central hypoventilation syndrome and Hirschsprung's disease, but also variant Hirschsprung's disease in humans. It also highlights the extreme difficulty in treating premature infants with severe and prolonged functional bowel obstruction.
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http://dx.doi.org/10.1016/j.ejmg.2018.09.008 | DOI Listing |
Eur J Pediatr Surg
December 2024
Department of Pediatric Surgery, University of Leipzig, Germany, Leipzig, Germany.
Introduction Pediatric robotic colorectal surgery has rapidly evolved, offering enhanced precision and safety for treating complex conditions such as Hirschsprung disease (HSCR), anorectal malformations (ARM), and inflammatory bowel disease (IBD). This review analyzes recent trends, outcomes, and complications in robotic colorectal procedures for pediatric patients. Materials and Methods A systematic review was performed using PubMed, yielding 1,112 articles related to pediatric robotic colorectal surgery.
View Article and Find Full Text PDFInt J Med Robot
December 2024
Department of Pediatric Surgery, Prisma Health Children's Hospital, Columbia, South Carolina, USA.
Background: Colorectal surgical procedures may benefit from a minimally invasive approach in children, although there are few studies.
Methods: A retrospective, single-centre observational study was conducted on paediatric patients who underwent colorectal robotic-assisted surgery between 2011 and 2022.
Results: A total of 50 patients (33 male; 17 female) were included, with a median age of 4.
Cureus
November 2024
Pediatric Medicine, New York Institute of Technology (NYIT) College of Osteopathic Medicine, Old Westbury, USA.
Hirschsprung's disease is a congenital condition characterized by the absence of ganglion cells in the intestines, leading to bowel obstruction. The lack of ganglion cells disrupts the normal motility of the intestines, causing a functional obstruction. This can lead to enterocolitis, an inflammation of the intestines, which is a serious complication in infants with Hirschsprung's disease.
View Article and Find Full Text PDFJ Biochem
November 2024
Department of Health Pharmacy, Yokohama University of Pharmacy, 601 Matano, Totsuka, Yokohama, 245-0066, Japan.
Long non-coding RNA Rhabdomyosarcoma 2-associated Transcript (RMST) is a crucial regulator in various biological processes, particularly in neurogenesis and cancer progression. This review summarizes current knowledge on structure, expression patterns, and functional roles across different organs and diseases of RMST. RMST exhibits tissue-specific expression, notably in brain tissues and vascular endothelial cells, and plays a significant role in neuronal differentiation through interaction with SRY-box 2 (SOX2).
View Article and Find Full Text PDFPediatr Surg Int
December 2024
Department of Pediatric Surgery, University of Medicine and Pharmacy at Ho Chi Minh City, 217 Hong Bang, Ward 11, District 5, Ho Chi Minh City, Vietnam.
Background: The efficacy of transanal endorectal pull-through (TERPT) in treating classic Hirschsprung's disease may be enhanced by incorporating laparoscopic-assisted endorectal pull-through (LERPT). This study was done to compare the long-term outcomes of TERPT and LERPT in the treatment of classic segment Hirschsprung's disease.
Methods: Longitudinal study.
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