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A Case of Cogential Fiber Type Disproportion With Multiple Anomalies

Authors
 Su Young Seo  ;  Young Mock Lee  ;  Se Hoon Kim  ;  Tai Seung Kim  ;  Joon Soo Lee  ;  Heung Dong Kim 
Citation
 Journal of the Korean Child Neurology Society (대한소아신경학회지), Vol.14(2) : 328-332, 2006 
Journal Title
 Journal of the Korean Child Neurology Society (대한소아신경학회지) 
ISSN
 1226-6884 
Issue Date
2006
Keywords
Congenital fiber type disproprtion (CFTD) ; Congenital myopathy ; Mentalretardation ; Seizure
Abstract
Congenital fiber type disproportion (CFTD) is a rare form of congenital myopathy characterized by the smallness and the marked predominance of type 1 fibers, which presents congenital hypotonia, delayed motor milestones, joint contractures, and skeletal deformities. The muscle biopsy reveals the type 1 fibers are more than 12% smaller than the type 2 fibers in size. We describe a 24-month-old boy who presented muscle hypotonia, delayed motor milestones, mental retardation with generalized tonic clonic seizures, and the muscle pathologic findings of CFTD. Additional findings included left cryptorchidism, congenital subluxation of the hip, contractures of ankle joints, diffuse brain atrophy, and optic nerve atrophy. We should consider CFTD as a differential diagnosis of early onset myopathy.
Files in This Item:
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Appears in Collections:
1. College of Medicine (의과대학) > Dept. of Pathology (병리학교실) > 1. Journal Papers
1. College of Medicine (의과대학) > Dept. of Pediatrics (소아청소년과학교실) > 1. Journal Papers
Yonsei Authors
Kim, Se Hoon(김세훈) ORCID logo https://orcid.org/0000-0001-7516-7372
Kim, Tai Seung(김태승)
Kim, Heung Dong(김흥동) ORCID logo https://orcid.org/0000-0002-8031-7336
Lee, Young Mock(이영목) ORCID logo https://orcid.org/0000-0002-5838-249X
Lee, Joon Soo(이준수) ORCID logo https://orcid.org/0000-0001-9036-9343
URI
https://ir.ymlib.yonsei.ac.kr/handle/22282913/110606
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