Combined methylmalonic acidemia and homocysteinemia presenting predominantly with late-onset diffuse lung disease: a case series of four patients

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

ISSN: 1750-1172