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

Table 2 Clinical characteristics of multisystem smooth muscle dysfunction syndrome patients worldwide

Characteristic		Meuwissen et al[4], 2012	Al-Mohaissen et al[8], 2012	Moosa et al[9], 2013	Roulez et al[10], 2014		Brodsky et al[11], 2014
n		1	1	1	3		1
Gender		F	F	F	F	F	F	M
Age (yr)		3	17	7	19	14	16	9
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		C	H	H	H	H	H	H
Prognosis		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.