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.

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.

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.

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.