CASE 4649 Published on 23.04.2006

Scleroderma diagnosed with barium swallow

Section

Abdominal imaging

Case Type

Clinical Cases

Authors

Marco Di Girolamo, Alessandra Galluzzo, Valerio Arcangelo Vitale, Andrea Fregolino

Patient

59 years, female

Clinical History
A 59 y.o woman with psoriatic arthritis, diabetes and chronic renal failure referring about dysphagia and pyrosis.
Imaging Findings
A 59 y.o. woman, affected by psoriatic arthritis and diabetes mellitus and with chronic renal failure, was admitted to our hospital with painful and swelling left upper extremity joints. Physical examination demonstrated Raynaud’s phenomenon, mild skin sclerosis and extremities edema. During hospitalization patient referred about dysphagia and pyrosis. A barium swallow was performed, showing a mild dilated esophageal lumen and the persistence of barium in the distal part of the esophagus. Moreover a stricture of the gastro-esophageal junction and lack of primary waves in the 2/3 of the esophagus were demonstrated. These features were consistent with the typical esophageal dysmotility disorder of the late phase of scleroderma. Considering radiological diagnosis, patient underwent dermatological clinical examination with skin biopsy. Blood tests for ANA (Anti-Nuclear Antibodies), particularly anticentromere (ACA) were positive, while anti-Scl-70 were negative. DLCO test (Diffusion capacity of the Lung for Carbon Monoxide), a lung diffusion test performed with inhalation of carbon monoxide, was slightly decreased. ECG and Echocardiography were performed, both showing no abnormalities. Then the patient underwent HRCT and focal ground-glass pulmonary opacities, associated with airspace consolidation area were detected in right middle lobe and in right lower lobe. Moreover the esophageal dilation was confirmed by CT
Discussion
Scleroderma is an autoimmune disorder that frequently appears in 4th-6th decade in female patients (F:M=3:1). The disease is characterized by progressive fibrosis, caused by peripheral vasculitis, that involves skin and lung., and the smooth muscle of the esophagus, stomach and small bowel. There are two main types of scleroderma: localized and systemic. Localized form affects the skin and in some cases the muscles and bones of the segment affected, but it does not affect internal organs. The systemic one could be classified in limited, diffuse and CREST (Calcinosis, Raynaud’s phenomenon, Esophageal disease, Sclerodactyly, and Telangiectasia). Scleroderma sine scleroderma has to be mentioned: this form that affects viscera with a subtle skin involvement. This unusual form of scleroderma is characterized by: Raynaud’s phenomenon; subtle skin involvement; onset with lung fibrosis, scleroderma kidney failure, and cardiac or GI involvement; positive blood test for scleroderma-specific ANA A dysmotility of the GI tract, from the pharynx to the colon, caused by ischemic-based innervation’s defect, is the primary revealed clinical sign of the disease. 80% of patients show: 1) esophageal involvement, with dysphagia, for the solid foods at the onset, and later for the liquids; 2) gastro-esophageal reflux due to lower esophageal sphincter involvement and worsening of peristalsis with complete atony and stricture of gastro-esophageal junction at last. The differential diagnosis includes achalasia and diffuse dysmotility. Achalasia is characterized by gastro-esophageal sphincter relaxing failure because of Wallerian degeneration of Auerbach’s plexus. The plexus relaxes only when hydrostatic pressure of the column of liquid or food exceeds that of the sphincter (Hurst phenomenon). Achalasia diagnostic criteria are: primary and secondary peristalsis absent throughout oesophagus; lower esophageal sphincter fails to relax in response to swallowing; beaked tapering at gastro-esophageal junction; presence of tertiary waves. Diffuse dysmotility is characterized by intermittent chest pain, dysphagia and forceful contractions, caused by neurogenic abnormality (vagus) or secondary to reflux esophagitis. The radiographic signs are: nutcracker esophagus; nonspecific esophageal dysmotility disorder; diffuse esophageal spasm (corkscrew esophagus). Respiratory system is involved in 60% of scleroderma patient, representing the most important cause of death. Autopsy performed on scleroderma patients revealed an increase percentage of lung involvement up to 80%. Symptoms are dyspnoea, cough and occasionally chest pain. At the first presentation, chest plain radiograph and HRCT reveal interstitial fibrosis with reticular-nodular pattern, mainly located in the lung bases; rarely upper lobes are interested. The lung disease could develop with some multiple cystic areas sized from few millimetres to 2 cm, evolving to end-stage interstitial fibrosis, related to a worsening of the DLCO test value. Interstitial fibrosis area widening is strictly related to disease stage. Pleural effusion is uncommon while pulmonary arteries enlargement is frequent. 20% of patient shows kidney involvement, with chronic renal failure or accelerated hypertension. Serological diagnosis of scleroderma is based on antinuclear auto-antibodies (ANA: anti-topoisomerase, anti-centromere, anti RNA polymerase) and anti-extractable nuclear antigen antibodies (ENA: anti-SCL 70). Test for searching of ANA is positive in 40-90% scleroderma patients.
Differential Diagnosis List
Systemic scleroderma supposed on the basis of barium swallow
Final Diagnosis
Systemic scleroderma supposed on the basis of barium swallow
Case information
URL: https://eurorad.org/case/4649
DOI: 10.1594/EURORAD/CASE.4649
ISSN: 1563-4086