書誌事項
- タイトル別名
-
- Merosin-Positive Congenital Muscular Dystrophy with Early Orthopaedic Problems in Relation to Ullrich's Disease.
- Ullrich病との関連を含めて
この論文をさがす
説明
We report three patients with sporadic merosin-positive congenital muscular dystrophy (CMD) with torticollis and/or developmental dislocation of the hip in early childhood. Diagnosis of merosin-positive CMD was based on their clinical and dystrophic muscle biopsy findings. At the age 13 months, patient 1 was found to have developmental dislocation of both hips, which was surgically treated at 5 years. Patient 2 had severe torticollis and contracture of both hip joints which had been present since the neonatal period, and underwent repair of the torticollis at 2 years. Patient 3 was found to have developmental dislocation of the left hip at one month of age. Although she had generalized muscle hypotonia she learned to walk at 23 months. She had no facial muscle involvement nor contracture of joints, but had hyperlaxity of distal joints. Her muscle biopsy showed complete collagen VI deficiency immunohistochemically. In contrast to merosin-deficient CMD, merosin-positive CMD appears to be a group of heterogeneous diseases. Since collagen VI was reported to be defective in Ullrich's disease, patient 3 may be diagnosed as having Ullrich's disease but had no typical clinical characteristics of the disease. Further study is needed to identify the pathogenetic mechanism of congenital muscular dystrophy with early joint abnormalities to determine whether there is a primary abnormality of the connective tissue including collagen VI.
収録刊行物
-
- 脳と発達
-
脳と発達 35 (2), 159-164, 2003
THE JAPANESE SOCIETY OF CHILD NEUROLOGY
- Tweet
キーワード
詳細情報 詳細情報について
-
- CRID
- 1390001204552664064
-
- NII論文ID
- 10010544169
- 130004183576
-
- NII書誌ID
- AN0020232X
-
- ISSN
- 18847668
- 00290831
-
- PubMed
- 12661101
-
- 本文言語コード
- ja
-
- 資料種別
- journal article
-
- データソース種別
-
- JaLC
- PubMed
- CiNii Articles
-
- 抄録ライセンスフラグ
- 使用不可
