Talk:Neural Crest System - Abnormalities

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Cite this page: Hill, M.A. (2021, December 5) Embryology Neural Crest System - Abnormalities. Retrieved from


Congenital aganglionic megacolon in Nigerian adults: two case reports and review of the literature

Niger J Clin Pract. 2011 Apr-Jun;14(2):249-52.

Bakari AA, Gali BM, Ibrahim AG, Nggada HA, Ali N, Dogo D, Abubakar AM. Source Department of Surgery, College of Medical Sciences, University of Maiduguri, Nigeria. Abstract Congenital aganglionic mega colon (Hirschsprung's disease) is a motor disorder in the gut, due to a defect in the craniocaudal migration of the neuroblast originating from the neural crest that occurs during the first twelve weeks of gestation, causing a functional intestinal obstruction, with its attendant complications, in infants. Despite modern pediatric practice, with emphasis on early diagnosis, Hirschsprung's disease is seen in adults in regions where perinatal care is limited. We report two cases of Nigerian adults with longstanding, recurrent constipation, getting relieved by laxatives and herbal enemata, and then presented to our Emergency Department with a history of progressive abdominal distention, colicky pain, occasional vomiting, and weight loss. Per rectal examination revealed a gripping sensation in the rectum, 10 cm from the anal verge, with rectal fecal load. Barium enema showed a grossly distended proximal large colon, with high fecal retention, with the transition zone at the middle one-third of the rectum. Due to difficulty in bowel preparation of these patients, emergency laparotomy was done. The first case had a diverting sigmoid colostomy and later had a low anterior resection. The second case had a one-stage procedure. Histology of both the cases showed aganglionosis of the stenotic segment and a normal distal rectum. Both patients had complete resolution of the symptoms, without complications, in a three-year follow-up. The related literatures were reviewed. Hirschsprung's disease should be considered in adults patient presenting with chronic constipation. Low anterior resection of the rectum would be a surgical option for the treatment of short and zonal segment of adult Hirschsprung's disease. PMID 21860150

Hedgehog/Notch-induced premature gliogenesis represents a new disease mechanism for Hirschsprung disease in mice and humans

J Clin Invest. 2011 Aug 15. pii: 43737. doi: 10.1172/JCI43737. [Epub ahead of print]

Ngan ES, Garcia-Barceló MM, Yip BH, Poon HC, Lau ST, Kwok CK, Sat E, Sham MH, Wong KK, Wainwright BJ, Cherny SS, Hui CC, Sham PC, Lui VC, Tam PK.


Hirschsprung (HSCR) disease is a complex genetic disorder attributed to a failure of the enteric neural crest cells (ENCCs) to form ganglia in the hindgut. Hedgehog and Notch are implicated in mediating proliferation and differentiation of ENCCs. Nevertheless, how these signaling molecules may interact to mediate gut colonization by ENCCs and contribute to a primary etiology for HSCR are not known. Here, we report our pathway-based epistasis analysis of data generated by a genome-wide association study on HSCR disease, which indicates that specific genotype constellations of Patched (PTCH1) (which encodes a receptor for Hedgehog) and delta-like 3 (DLL3) (which encodes a receptor for Notch) SNPs confer higher risk to HSCR. Importantly, deletion of Ptch1 in mouse ENCCs induced robust Dll1 expression and activation of the Notch pathway, leading to premature gliogenesis and reduction of ENCC progenitors in mutant bowels. Dll1 integrated Hedgehog and Notch pathways to coordinate neuronal and glial cell differentiation during enteric nervous system development. In addition, Hedgehog-mediated gliogenesis was found to be highly conserved, such that Hedgehog was consistently able to promote gliogenesis of human neural crest-related precursors. Collectively, we defined PTCH1 and DLL3 as HSCR susceptibility genes and suggest that Hedgehog/Notch-induced premature gliogenesis may represent a new disease mechanism for HSCR.

PMID 21841314


From the archives of the AFIP: a comprehensive review of fetal tumors with pathologic correlation

Radiographics. 2005 Jan-Feb;25(1):215-42.

Woodward PJ, Sohaey R, Kennedy A, Koeller KK.

Department of Radiologic Pathology, Armed Forces Institute of Pathology, Bldg 54, Rm M-121, 14th and Alaska Ave NW, Washington, DC 20306-6000, USA. Abstract Fetal tumors are a diverse group of neoplasms, which are unique in their histologic characteristics, anatomic distribution, and pathophysiology. The biologic behavior of tumors in the fetus may differ dramatically compared with that of the same tumor detected later in life. Teratomas are the dominant histologic type and constitute the majority of both extracranial and intracranial neoplasms. Although often histologically mature, they may prove lethal because of their location and metabolic demands on the fetus. Large solid tumors may lead to cardiovascular compromise and hydrops fetalis. Extracranial teratomas are most commonly located in the sacrococcygeal area, followed by the head and neck, chest, and retroperitoneum. Fetuses with intracranial tumors have a poor prognosis regardless of histologic type. There are, however, two notable exceptions: lipomas and choroid plexus papillomas, both of which have a more favorable outcome. Neuroblastoma is the most common fetal malignancy. It may be either solid or cystic and is more often located on the right side. It typically has favorable biologic markers and stage at presentation. The prognosis for prenatally diagnosed cases is excellent. Other fetal neoplasms include soft-tissue tumors (both benign and malignant), leukemia, mesenchymal hamartoma of the kidney, and liver tumors (hemangioendothelioma, mesenchymal hamartoma, and hepatoblastoma).

PMID: 15653597