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©The Author(s) 2019.
World J Clin Cases. Dec 26, 2019; 7(24): 4355-4365
Published online Dec 26, 2019. doi: 10.12998/wjcc.v7.i24.4355
Published online Dec 26, 2019. doi: 10.12998/wjcc.v7.i24.4355
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 |
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 |
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 |
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 |
- Citation: Chen SN, Wang YQ, Hao CL, Lu YH, Jiang WJ, Gao CY, Wu M. Multisystem smooth muscle dysfunction syndrome in a Chinese girl: A case report and review of the literature. World J Clin Cases 2019; 7(24): 4355-4365
- URL: https://www.wjgnet.com/2307-8960/full/v7/i24/4355.htm
- DOI: https://dx.doi.org/10.12998/wjcc.v7.i24.4355