Table 3.
Imaging features of 4 Chinese patients with combined MMA and homocysteinemia
Patient 1 | Patient 2 | Patient 3 | Patient 4 | |
---|---|---|---|---|
PAH | + | + | — | + |
EF(%) | 74 | 68 | 75 | 77 |
Abdominal ultrasonography | Echo enhancement of the renal parenchyma on both sides | Mild enlargement of both kidneys | Echo enhancement and diffuse injury to the renal parenchyma on both sides | Normal |
Brain MRI | Dilated lateral ventricles with mild hydrocephalus | Normal | Demyelinating lesions | Demyelinating lesions |
Lung CT | Diffuse ground-glass opacification, interlobular septal thickening | Diffuse poorly defined centrilobular nodules, interlobular septal thickening | Diffuse poorly defined ground-glass centrilobular nodules | Mild diffuse ground-glass opacification, |
Abbreviations: EF ejection fraction; MRI magnetic resonance imaging; PAH pulmonary arterial hypertension