Multisystem smooth muscle dysfunction syndrome in a Chinese girl: A case report and review of the literature

Figure 1 Chest high-resolution computed tomography images. A chest high-resolution computed tomography scan showed inhomogeneous lung transparency and obvious exudative lesions, and some lung fissures were markedly thickened in the lung of the patient.

Figure 2 Cranial magnetic resonance imaging of the patient. Magnetic resonance imaging showed abnormal signals in the centrum ovale majus and bilateral periventricular regions.

Figure 3 Abdominal ultrasonography images. Abdominal ultrasonography revealed a strong echo mass of approximately 4 × 6 in size in the gallbladder.

Figure 4 Echocardiography. Echocardiography showed a widening pulmonary artery.

Figure 5 Bronchoscopic findings. Bronchoscopy revealed redness and edema of the bronchial mucous membranes. Phlegm spots were observed in the left lung, and bronchomalacia was observed in bilateral lungs.

Figure 6 Genomic sequence of the patient. Sequencing map of the actin alpha2 (ACTA2) gene showed a C-T heterozygous variation at nucleotide 536 in the coding region of the ACTA2 gene, causing 179 amino acid changes. No genetic mutations were found in her parents.