Intractable watery diarrhea presenting in the neonatal period is a relatively uncommon condition. Congenital disorders of malabsorption are among the major causes of prolonged watery diarrhea. This is the case report of a 3-month male infant born to consanguineous parents, who presented with intractable diarrhea since birth. He was failing to thrive and wasted. Persistent diarrhea lead to prolonged hospitalisation and recurrent hypernatremic dehydration. Relevant investigations clinched the diagnosis of ''congenital glucose galactose malabsorption (CGGM)''. The astute clinician should have a high index of suspicion regarding such rare causes of diarrhea in early infancy, as an appropriate rational diagnosis can lead to life-saving treatment as depicted in this case report.
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http://dx.doi.org/10.29271/jcpsp.2019.06.S48 | DOI Listing |
Cureus
December 2024
Department of Pediatrics, Military Hospital, Bahrain Defence Force Royal Medical Services, Riffa, BHR.
Trichohepatoenteric syndrome (THES) is a rare genetic disorder inherited in an autosomal recessive manner. THES primarily leads to neonatal enteropathy, typically manifesting as severe, persistent diarrhea, distinctive facial features such as frontal bossing and a broad flat nasal bridge, woolly and fragile hair, immunodeficiency resulting in recurrent infections, failure to thrive (FTT), and liver complications including fibrosis or cirrhosis. This multisystem disorder is linked to mutations in the tetratricopeptide repeat domain 37 (TTC37) gene, also known as superkiller complex (SKIC) protein 3, responsible for THES type 1, and the Ski2-like ribonucleic acid (RNA) helicase (SKIV2L) gene, also known as SKIC2, responsible for THES type 2.
View Article and Find Full Text PDFAnn Gastroenterol Surg
January 2025
Division of Frontier Surgery, The Institute of Medical Science The University of Tokyo Bunkyō Japan.
In right-sided colon cancer surgery, lymph node dissection around the superior mesenteric artery is necessary but technically challenging. Here we introduce the concept of "outermost layer-oriented robotic surgery" to improve the safety, efficacy, and reproducibility of superior mesenteric artery nodal dissection. In this procedure, the thin, loose connective tissue layer between the autonomic nerve sheath of the superior mesenteric artery and adipose tissue bearing lymph nodes, termed "the outermost layer of the autonomic nerve," is dissected.
View Article and Find Full Text PDFCureus
December 2024
Rheumatology, Rochester Regional Health, Rochester, USA.
Front Cardiovasc Med
December 2024
Department of Cardiology, INSERM UMR 1295, Toulouse University Hospital, Toulouse, France.
Cerebrotendinous xanthomatosis (CTX) is a rare but treatable inherited neurometabolic disorder that can lead to severe sequelae if left untreated. Chenodeoxycholic acid is a safe and effective treatment for CTX. Early diagnosis is essential to improve patient outcomes.
View Article and Find Full Text PDFZhonghua Wei Chang Wai Ke Za Zhi
December 2024
Department of General Surgery, the Army Medical Center (Daping Hospital), Chongqing400042, China.
Although the surgical treatment of slow transit constipation (STC) has been around for over a century, the choice of surgical method is still controversial. Specifically, the two most widely used operations in the world are total colectomy ileorectostomy (TC-IRA) and subtotal colectomy. Subtotal colectomy offers many methods for anastomosis, including ileocecal and cecorectal anastomoses and so on.
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