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

Table 4 Clinical characteristics of multisystem smooth muscle dysfunction syndrome patients worldwide

Characteristic		Prabhu et al[15], 2017	Logeswaran et al[16], 2017		Zhou et al[3], 2017	Our patient	Observed Cases (n)	Positive cases, n (%)
n		1	2		1	1
Gender		F	M	F	F	F	33
Age (yr)		0.4	3 (d)	26	2	0.8
Vision system	Congenital mydriasis	+	+	+	+	+	33	33 (100)
	Retinal vascular tortuosity		+	+	+	-	16	15 (93.8)
Cardiovascular system	PDA	+	+	+	+	-	33	32 (97.0)
	ASD	-	-	-	-	-	33	6 (18.2)
	PAH	+	-	+	+	-	27	13 (48.1)
	TAA	-	-	+	-	-	27	9 (33.3)
	AAD	-	-	-	-	-	27	9 (33.3)
	PAD	+	-	+	-	+	27	11 (40.7)
Nervous system	Development delay	+			+	+	16	10 (62.5)
	Spastic seizures/epilepsy					-	5	3 (60.0)
	Cerebral infarction/hemiplegia		-	-	-	-	32	5 (15.6)
	WM signal changes		+	+	+	-	32	23 (71.9)
	Moyamoya-like changes		-	+	+	-	32	23 (71.9)
Digestive system	Intestinal malrotation	-	-	-		-	17	7 (41.2)
	Intestinal hypoperistalsis	-	-	-		-	17	6 (35.3)
	Gallstones		-	-		+	5	3 (60.0)
Respiratory system	Dyspnea	+				+	23	15 (65.2)
	RRTI	+				+	23	5 (21.7)
	Asthma	-				-	23	3 (13.0)
Urinary system	Hypotonic bladder		-	-			24	14 (58.3)
	Hydronephrosis		-	-		-	9	5 (55.6)
	Hypospadias		-	-		-	8	5 (62.5)
ACTA2 mutation		H	H	H	H	H
Prognosis

+: Present; -: Absent; blank: Unknown; PDA: Patent ductus arteriosus; ASD: Atrial septal defect; PAH: Pulmonary artery hypertension; TAA: Thoracic aortic aneurysm; AAD: Ascending aorta dilatation; PAD: Pulmonary artery dilatation; WM: White matter; RRTI: Recurrent upper respiratory tract infection; H: R179H; C: R179C; L: R179L; D: Death.