A Rare Case Presentation on Total Colonic Aganglionosis in a Female Infant of Indian Origin
Copyright © 2023, Nayak et al..
Total colonic aganglionosis, also called total colonic Hirschsprung's disease, is a known congenital disorder caused by the migration of abnormal embryonic neuroblasts. RET, NRG1, and L1CAM genes are reported as pathological gene variants associated with the incidence of different variants of Hirschsprung's disease. Major clinical presentations are well documented as inefficiency to pass stools, vomiting, fever, persistent crying, and other features of intestinal obstruction. We present here the case of a two-day-old female infant of Indian origin and its diagnostic, clinical, and case management data.
| Medienart: |
E-Artikel |
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| Erscheinungsjahr: |
2023 |
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| Erschienen: |
2023 |
| Enthalten in: |
Zur Gesamtaufnahme - volume:15 |
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| Enthalten in: |
Cureus - 15(2023), 12 vom: 15. Dez., Seite e49847 |
| Sprache: |
Englisch |
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| Beteiligte Personen: |
Nayak, Krushank [VerfasserIn] |
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| Links: |
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| Themen: |
Case Reports |
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| Anmerkungen: |
Date Revised 05.01.2024 published: Electronic-eCollection Citation Status PubMed-not-MEDLINE |
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| doi: |
10.7759/cureus.49847 |
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| funding: |
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| Förderinstitution / Projekttitel: |
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| PPN (Katalog-ID): |
NLM366603841 |
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| 520 | |a Copyright © 2023, Nayak et al. | ||
| 520 | |a Total colonic aganglionosis, also called total colonic Hirschsprung's disease, is a known congenital disorder caused by the migration of abnormal embryonic neuroblasts. RET, NRG1, and L1CAM genes are reported as pathological gene variants associated with the incidence of different variants of Hirschsprung's disease. Major clinical presentations are well documented as inefficiency to pass stools, vomiting, fever, persistent crying, and other features of intestinal obstruction. We present here the case of a two-day-old female infant of Indian origin and its diagnostic, clinical, and case management data | ||
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