Objective: Congenital esophageal stenosis is thought to be a rare disease confined to infancy and childhood with only a few case reports in adults described.
Methods: We report five patients between the ages of 19 and 46 yr who presented with this disorder over a 2-yr period.
Results: Patients had been labeled with reflux strictures, webs, or as idiopathic in the past. All patients had chronic solid food dysphagia, some since early childhood. The location of the stricture varied, occurring in the mid or proximal esophagus in four, but throughout the esophagus in one. Radiographic and endoscopic appearance was a smooth concentric stricture or multiple rings, sometimes tracheal in appearance. Endosonography was performed in two patients, both of whom had focal circumferential hypoechoic wall thickening with disruption of the normal layer pattern corresponding to the areas of luminal narrowing. All patients dilated had good symptomatic response, with resolution of symptoms up to 6 months in follow-up.
Conclusions: We suggest that congenital esophageal stenosis does occur in adults and may be underrecognized. Its endosonographic appearance is described.
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http://dx.doi.org/10.1111/j.1572-0241.2000.01668.x | DOI Listing |
Unlabelled: Children post-tracheoesophageal fistula (TEF) repair may present with chronic respiratory and gastrointestinal symptoms that can affect quality of life.
Objective: To identify factors associated with positive findings on triple endoscopy following neonatal TEF repair.
Study Design: Case series with retrospective review of patients.
Prenat Diagn
January 2025
Division of Maternal Fetal Medicine, Department of Obstetrics and Gynecology, University of North Carolina School of Medicine, Chapel Hill, North Carolina, USA.
Objective: To report a case of a fetus with multiple congenital anomalies and suspected Barth syndrome, highlighting potential phenotypic expansion of the syndrome.
Methods: A 32-year-old G4P2011 patient was referred at 18w5d gestation for suspected fetal encephalocele. Serial imaging, including ultrasound and MRI, was performed to evaluate fetal anomalies.
Am J Case Rep
December 2024
I Department of Radiology and Diagnostic Imaging, Norbert Barlicki Memorial Teaching Hospital No. 1, Medical University of Łódź, Łódź, Poland.
BACKGROUND Arterioportal fistulas (APFs) are abnormal connections between the arterial and portal venous systems, leading to portal hypertension (PH) and symptoms such as gastrointestinal bleeding, splenomegaly, and hepatic pain. Symptoms typically appear by the age of 2 years in about 75% of cases. CASE REPORT A 7-year-old boy with an asymptomatic APF developed life-threatening complications following a Clostridium difficile infection.
View Article and Find Full Text PDFClin Genet
December 2024
Univ. Lille, CHU Lille, ULR 7364 - RADEME, Lille, France.
Phosphoribosylaminoimidazole carboxylase (PAICS) deficiency, caused by biallelic variants in PAICS gene, is an inborn error of de novo purine synthesis. Only two patients from a consanguineous family have been reported, with multiple congenital malformations, resulting in early neonatal death. Molecular analysis identified a homozygous p.
View Article and Find Full Text PDFCureus
November 2024
Acute Internal Medicine, Stepping Hill Hospital, Stockport, GBR.
Situs inversus partialis (SIP) is an extremely rare congenital disorder in which most of the visceral organs are located on the opposite side of their usual anatomical locations. The condition is usually associated with levocardia, in which the apex of the heart is directed toward the left side. In our case study, a female patient with a history of dysphagia and weight loss presented to the outpatient clinic under the urgent two-week wait pathway.
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