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

Table 1 Clinical characteristics of multisystem smooth muscle dysfunction syndrome patients worldwide

Characteristic	Milewicz et al[1], 2010 (n = 6)						Munot et al[2], 2012 (n = 6)						Moller et al[5], 2012 (n = 1)
Gender	F	M	M	F	F	F	F	F	M	F	M	F	M
Age (yr)	11	14	17	11	26	27	3	6	5	2	6	0.25	6
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	H	H	H	L	H	H	H	L
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.