  |
|
 |
|
Case Series
| ||||||
| Magnetic resonance imaging confirmed clinical diagnosis of amyoplasia in two infants with arthrogryposis multiplex congenita | ||||||
| Ariam Diaz1, Dominic Sia1, Valerie May G Sia1, Evelyn Erickson1, Sergey Prokhorov1, Menachem Gold2 | ||||||
|
1Department of Pediatrics, Lincoln Medical & Mental Health Center, Bronx, NY, United States.
2Department of Radiology, Lincoln Medical & Mental Health Center, Bronx, NY, United States. | ||||||
| ||||||
|
[HTML Full Text]
[PDF Full Text]
[Print This Article]
[Similar article in Pumed] [Similar article in Google Scholar] 
|
| How to cite this article: |
| Diaz A, Sia D, Sia VMG, Erickson E, Prokhorov S, Gold M. Magnetic resonance imaging confirmed clinical diagnosis of amyoplasia in two infants with arthrogryposis multiplex congenita. International Journal of Case Reports and Images 2013;4(1):7–10. |
|
Abstract
|
|
Introduction:
We present two cases of arthrogryposis multiplex congenita (AMC) with involvement of the lower extremities. In both cases amyoplasia was confirmed by a magnetic resonance imaging (MRI). The degree of amyoplasia correlated with the severity of arthrogryposis and determined the child's prognosis.
Case Series: Case 1 was a 16-month-old male child with prenatally diagnosed Klinefelter syndrome was born at 36 weeks gestation. Brain MRI was reported as normal. Joint rigidity was detected in upper and lower extremities. Amyoplasia was suspected at nine months of age since the lower limb muscles were hardly palpable. Case 2 was a 5 ½-month-old female child and the first child of non-consanguinous parents was noticed to have rigid right calcaneovalgus and left equinovarus feet deformities as well as knee rigidity with limitation of knee extension. Bilateral hip displacement was also diagnosed. Absence of muscles on thigh palpation prompted MRI study. Conclusion: Although amyoplasia is the most common type of arthrogryposis multiplex congenita, muscle underdevelopment in these patients remains puzzling for pediatric practitioners. Amyoplasia congenita is usually symmetrical and involves either all extremities or selectively only the lower or upper extremities. Absence of muscle groups on MRI confirms diagnosis of amyoplasia. Early recognition of amyoplasia in children with arthrogryposis multiplex congenita can help in tailoring their treatment and prognosis. | |
|
Key Words:
MRI confirmed amyoplasia, Arthrogryposis multiplex congenita (AMC)
| |
|
[HTML Full Text]
[PDF Full Text]
|
|
Author Contributions:
Ariam Diaz – Conception and design, Acquisition of data, Analysis and interpretation of data, Drafting the article, Critical revision of the article, Final approval of the version to be published Dominic Sia – Conception and design, Acquisition of data, Analysis and interpretation of data, Drafting the article, Critical revision of the article, Final approval of the version to be published Valerie May G Sia – Conception and design, Acquisition of data, Analysis and interpretation of data, Drafting the article, Critical revision of the article, Final approval of the version to be published Evelyn Erickson – Acquisition of data, Drafting the article, Critical revision of the article, Final approval of the version to be published Sergey Prokhorov – Conception and design, Acquisition of data, Analysis and interpretation of data, Drafting the article, Critical revision of the article, Final approval of the version to be published Menachem Gold – Conception and design, Acquisition of data, Analysis and interpretation of data, Drafting the article, Critical revision of the article, Final approval of the version to be published |
|
Guarantor of submission:
The corresponding author is the guarantor of submission. |
|
Source of support:
None |
|
Conflict of interest:
Authors declare no conflict of interest. |
|
Copyright:
© Ariam Diaz et al. 2013; This article is distributed the terms of Creative Commons Attribution License which permits unrestricted use, distribution and reproduction in any means provided the original authors and original publisher are properly credited. (Please see Copyright Policy for more information.) |
|
|