PMC9272138_01
Clinical features of the patient with both dyschromatosis symmetrica hereditaria (DSH) and Aicardi-Goutieres syndrome type 6 (AGS 6). The symmetrical appearance of freckle-like pigmentation and hypopigmentation spots were on the face (A), backs of hands and feet (B,C), presenting a reticulate pattern. Enlarged cardiac shadow was observed through Chest radiographs, and the cardio-thoracic ratio was around 0.65. (D) Cardiac color ultrasound showed normal postoperative cardiac changes after patent ductus arteriosus closure, severe mitral regurgitation (MR) and moderate mitral stenosis (MS), extremely mild aortic regurgitation (AR), mild + tricuspid regurgitation (TR) and a small amount of pericardial effusion (PE). (E,F) Brain computed tomography revealed calcification in the dentate nucleus, basal ganglia and cerebral white matter and mild brain atrophy. The textures of both lungs were increased and blurred, and there were small patchy shadows (G). (H) A mitral valve biopsy revealed significant valve calcification, and the arrows marked the calcification.
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F1
The patient experienced asphyxia neonatorum, with facial features of slightly ocular hypertelorism (Figures 1A-C) and a depressed nasal bridge. Enlarged cardiac shadow was observed through chest radiographs, and the cardio-thoracic ratio was around 0.65 (Figure 1G). Calcification in the dentate nucleus, basal ganglia and cerebral white matter, and mild brain atrophy were revealed by brain computed tomography (Figures 1E,F). Cardiac color ultrasound showed normal postoperative cardiac changes after patent ductus arteriosus closure, severe mitral regurgitation (MR) and moderate mitral stenosis (MS), extremely mild aortic regurgitation (AR), mild + tricuspid regurgitation (TR), and a small amount of pericardial effusion (PE) (Figure 1D). On June 21, 2019, the ROSS-II procedure (mitral valve replacement with the pulmonary autograft) was performed under general anesthesia, and then mitral valve calcification was verified to result in severe mitral valve regurgitation (Figure 1H).
Cardiac magnetic resonance imaging of the patient with both dyschromatosis symmetrica hereditaria (DSH) and Aicardi-Goutieres syndrome type 6 (AGS 6). Cardiac MRI image indicated mitral valve stenosis (MS), severe mitral regurgitation (MR), tricuspid regurgitation (TR), biatrial enlargement with the more significant left atrium, biventricular hypertrophy, and a small amount of pericardial effusion (PE).
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Cardiac MRI image indicated MS, severe MR, TR, biatrial enlargement with the more significant left atrium, biventricular hypertrophy, and a small amount of PE (Figure 2).