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Diffuse Esophageal Leiomyomatosis and the Surgical Challenges Encountered.
J Indian Assoc Pediatr Surg
August 2024
Department of Paediatrics, All India Institute of Medical Sciences, New Delhi, India.
Diffuse esophageal leiomyomatosis (DEL) is a rare condition characterized by the growth of multiple benign smooth muscle tumors (leiomyomas) in the esophagus. These tumors can cause obstruction and functional impairment of the esophagus, leading to symptoms such as difficulty swallowing, chest pain, and weight loss. The disease can present with leiomyomas or glomerular nephropathy in other body parts, hearing defects, astigmatism, or myopia (Alport's syndrome).
View Article and Find Full Text PDFDyspnea and nocturnal cough due to esophageal diffuse leiomyomatosis in a girl with hematuria.
Pediatr Pulmonol
January 2025
Department of Pediatrics, Seoul National University College of Medicine, Seoul, Korea.
A 7-year-old girl with hematuria and clinical suspicion of Alport syndrome (AS) presented with dyspnea and nocturnal cough, initially diagnosed and treated as asthma. Despite inhaled corticosteroid therapy, her symptoms persisted, and spirometry indicated obstructive lung function without bronchodilator response. Chest CT revealed diffuse thickening of the esophageal wall, tracheal compression, with involvement of the gastric cardia, suggestive of diffuse leiomyomatosis.
View Article and Find Full Text PDFPaediatric diffuse oesophageal leiomyomatosis with Alport syndrome.
BMJ Case Rep
August 2024
Department of Paediatric Surgery, Institute Of Systems Molecular and Integrative Biology, University of Liverpool, Liverpool, UK.
Diffuse oesophageal leiomyomatosis is a rare benign disease in the paediatric population. This report highlights a recent clinical case, together with a narrative review of current world literature.An early middle childhood girl with recurrent lower respiratory tract infections for 2 years was noted to have a retrocardiac lesion on chest X-ray, later confirmed to be an oesophageal mass on CT imaging.
View Article and Find Full Text PDF[A case of X-linked Alport syndrome with esophageal leiomyomatosis].
Zhonghua Er Ke Za Zhi
March 2024
Department of Pediatrics, Jinling Hospital, Affiliated Hospital of Medical School, Nanjing University, Nanjing 210002, China.
Dysphagia Unmasked: A Case Report of Esophageal Leiomyomatosis.
Cureus
November 2023
Family Medicine, Primary Health Care Center, Riyadh, SAU.
Esophageal leiomyomatosis, an uncommon benign condition marked by the proliferation of smooth muscle cells within the esophageal wall, frequently presents diagnostic challenges due to its rarity and diverse clinical manifestations. In this case report, we document the clinical journey of a 28-year-old female who presented with a two-year history of progressive dysphagia. Upon physical examination and endoscopy, a submucosal mass in the lower esophagus was identified, prompting further imaging and subsequent biopsy, which confirmed the diagnosis of leiomyomatosis.
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