PMID- 27784478
OWN - NLM
STAT- MEDLINE
DCOM- 20170515
LR  - 20181202
IS  - 0578-1310 (Print)
IS  - 0578-1310 (Linking)
VI  - 54
IP  - 10
DP  - 2016 Oct 2
TI  - [Correlation between thigh muscle magnetic resonance imaging findings and 
      clinical features of congenital muscular dystrophies: a preliminary study].
PG  - 756-760
LID - 10.3760/cma.j.issn.0578-1310.2016.10.009 [doi]
AB  - Objective: To analyze the clinical and magnetic resonance imaging (MRI) features 
      of congenital muscular dystrophy (CMD) to improve the diagnostic level. Method: 
      Clinical manifestations and thigh muscle MRI results of 8 cases of CMD diagnosed 
      on genetic level from April 2013 to November 2015 were investigated. MRI was 
      performed on the thigh muscles of all cases. Fatty infiltration of different 
      muscles described in T1WI was graded to evaluate. Clinical symptoms and signs, as 
      well as muscle MRI features were analyzed by statistical description. Result: 
      Among these 8 cases, 2 cases were diagnosed with Ullrich congenital muscular 
      dystrophy (UCMD), 1 case had rigid spine with muscular dystrophy type 1 (RSMD1), 
      1 case had LMNA related muscular dystrophy (L-CMD), 1 case had congenital 
      muscular dystrophy 1C (MDC1C) and 3 cases had congenital muscular dystrophy 1A 
      (MDC1A), with 4 were males and 4 females, aged from 0.9 year to 4.8 years (median 
      age was 2.2 years). All of these 8 cases presented with muscle weakness and 
      hypotonia from birth to within the first six months, together with delayed motor 
      development and joint contractures. Some cases had spinal deformity or skin 
      changes. Various degrees of fatty infiltration in gluteus maximus and thigh 
      muscles were shown in all of the cases, and differences among CMD subtypes in the 
      form of fatty infiltration were detected; muscle edema was present in 5 cases, 
      and muscle atrophy in 7 cases. However, none of them has muscle hypertrophy. 
      Semimembranous muscle absence was detected in 1 case. Conclusion: The clinical 
      manifestations and thigh muscle MRI findings of CMD have some features, and vary 
      in certain CMD subtypes. MRI examination combined with clinical features may 
      provide useful information to select appropriate genetic or other diagnostic 
      techniques, which may help clinicians to make accurate diagnosis.
FAU - Wang, L L
AU  - Wang LL
AD  - *Department of Pediatrics, Peking University First Hospital, Beijing 100034, 
      China.
FAU - Du, J
AU  - Du J
FAU - Fu, X N
AU  - Fu XN
FAU - Fan, Y B
AU  - Fan YB
FAU - Wei, C J
AU  - Wei CJ
FAU - Ding, J
AU  - Ding J
FAU - Tan, D D
AU  - Tan DD
FAU - Xiao, J X
AU  - Xiao JX
FAU - Xiong, H
AU  - Xiong H
LA  - chi
PT  - Journal Article
PL  - China
TA  - Zhonghua Er Ke Za Zhi
JT  - Zhonghua er ke za zhi = Chinese journal of pediatrics
JID - 0417427
RN  - Muscular Dystrophy, Congenital, 1C
RN  - Muscular dystrophy congenital, merosin negative
RN  - Rigid spine syndrome
RN  - Scleroatonic muscular dystrophy
SB  - IM
MH  - Child
MH  - Child, Preschool
MH  - Female
MH  - Humans
MH  - Magnetic Resonance Imaging
MH  - Male
MH  - Mallory Bodies/*pathology
MH  - Muscle, Skeletal
MH  - Muscular Dystrophies/*pathology
MH  - Muscular Dystrophies, Limb-Girdle
MH  - Sclerosis/*pathology
MH  - Scoliosis/*pathology
MH  - Thigh/*pathology
EDAT- 2016/10/28 06:00
MHDA- 2017/05/16 06:00
CRDT- 2016/10/28 06:00
PHST- 2016/10/28 06:00 [pubmed]
PHST- 2017/05/16 06:00 [medline]
PHST- 2016/10/28 06:00 [entrez]
AID - 10.3760/cma.j.issn.0578-1310.2016.10.009 [doi]
PST - ppublish
SO  - Zhonghua Er Ke Za Zhi. 2016 Oct 2;54(10):756-760. doi: 
      10.3760/cma.j.issn.0578-1310.2016.10.009.