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Diffuse esophageal spasm (DES) is a rare motility disorder characterized by uncoordinated esophageal contractions, often presenting with dysphagia and chest pain. This case describes a 70-year-old male who presented with atypical symptoms of DES, including episodic dysphagia to solids, postprandial vomiting, and chest pain triggered by cold liquids. Initially misdiagnosed as indigestion, further evaluation with barium swallow imaging revealed a "corkscrew" esophagus, leading to the diagnosis of DES.

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Objective: In systemic sclerosis (SSc), absent contractility (AC) rather than ineffective esophageal motility on manometry is associated with a severe esophageal and extraintestinal phenotype. We sought to determine whether slow esophageal transit on scintigraphy associates with a comparable clinical phenotype to that of AC on manometry, as scintigraphy may serve as a noninvasive approach to risk-stratify patients with SSc.

Methods: Clinical, demographic, and serologic features were compared between patients with and without delayed esophageal transit on scintigraphy.

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TERT de novo mutation-associated dyskeratosis congenita and porto-sinusoidal vascular disease: a case report.

J Med Case Rep

January 2025

Department of Hepatic Biliary Pancreatic Medicine, First Hospital of Jilin University, 1 Xinmin Avenue, Changchun, 130021, China.

Background: Dyskeratosis congenita is a rare genetic disease due to telomere biology disorder and characterized by heterogeneous clinical manifestations and severe complications. "Porto-sinusoidal vascular disease" has been recently proposed, according to new diagnostic criteria, to replace the term "idiopathic non-cirrhotic portal hypertension." TERT plays an important role in telomeric DNA repair and replication.

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Introduction: Systemic lupus erythematosus (SLE) complicated by thrombotic microangiopathy (TMA) and non-cirrhotic portal hypertension (NCPH) is rare. We present a case of a female patient with SLE who developed TMA and NCPH and responded positively to rituximab and plasma exchange treatment.

Case Description: A 53-year-old woman was admitted with 6 h of confusion.

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