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

Table 3 Clinical characteristics of multisystem smooth muscle dysfunction syndrome patients worldwide

Characteristic		Amans et al[12], 2014	Yetman et al[13], 2015			Richer et al[14], 2012	De et al[6], 2016		Moreno et al[7], 2016
n		1	3			1	2		1
Gender		F	F	F	F	M	F	M	F
Age(yr)		3	15	0.9	31	2	0.2		0.8
Vision system	Congenital mydriasis	+	+	+	+	+	+	+	+
	Retinal vascular tortuosity		+	+	+
Cardiovascular system	PDA	+	+	+	+	+	+	+	+
	ASD	-	+	+	+	-	-	+	+
	PAH	-	+	+	+	+	+	-	-
	TAA	-	+	-	+	-	-	-	-
	AAD	-	+	+	+	+	-	+	-
	PAD	-	+	+	+	+	-	+	-
Nervous system	Development delay					+
	Spastic seizures/epilepsy		+	-	+
	Cerebral infarction/hemiplegia	-	-	-	-	-	-	-	-
	WM signal changes	-	+	+	+	+	-	+	-
	Moyamoya-like changes	+	+	-	-	+	+	+	+
Digestive system	Intestinal malrotation		+	+	-				+
	Intestinal hypoperistalsis		-	-	+				+
	Gallstones
Respiratory system	Dyspnea	-	-	+	-	+		+
	RRTI	-	-	-	-	-		-
	Asthma	-	-	-	-	-		-
Urinary system	Hypotonic bladder	+	+	-	+	+	-	+	+
	Hydronephrosis					-	+	+	+
	Hypospadias					+	+	+	+
ACTA2 mutation		H	H	H	H	H	C	C	C
Prognosis				D			D

+: 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.