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Minicores and congenital fibre type disproportion observed in a family |
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| Authors: | S JONGPIPUTVANICH P J WALSH B A KAKULAS |
| Institution: | Department of Paediatrics, Faculty of Medicine, Chulalongkorn University, Bangkok, Thailand, and the Australian Neuromuscular Research Institute, University of Western Australia, Perth, Western Australia, Australia;Princess Margaret Hospital, Perth, and the Australian Neuromuscular Research Institute, University of Western Australia, Perth, Western Australia, Australia;Department of Neuropathology, Royal Perth Hospital, Perth, and the Australian Neuromuscular Research Institute, University of Western Australia, Perth, Western Australia, Australia |
| Abstract: | Objective: To report a family in which congenital fibre type disproportion (CFTD) and minicore disease have been observed in members of the same family, and raise the question of the relationship between CFTD and minicores. Methodology: A follow-up clinical and biopsy study of a girl who presented to hospital because of marked hypotonia and non-progressive weakness. She had muscle biopsies at the age of 18 months and again at 4 1/2 years. Her asymptomatic parents were also biopsied. The muscle specimens were processed for histopathological and morphometric studies. Results: The histopathological findings of the muscle of the daughter were consistent with CFTD. The muscle biopsy of her father was normal whereas her mother's revealed minicore formation. Conclusions: The findings of CFTD and minicore disease in members of the same family suggest that CFTD and minicore formation may both be the result of a common pathological mechanism rather than each being a distinct clinicopathological entity. |
| Keywords: | congenital disease fibre type disproportion minicores |