Generalized Hypertrophic Myopathy Associated with Chorioretinal Dystrophy and Struma Lymphomatosa - A Case Report

E. V. van Zuilen; F. J. M. Gabreëls; W. O. Renier; A. J. L. Pinckers; H. J. ter Laak; A. M. Stadhouders

doi:10.1055/s-2008-1052361

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Neuropediatrics 1984; 15(3): 159-164
DOI: 10.1055/s-2008-1052361

Generalized Hypertrophic Myopathy Associated with Chorioretinal Dystrophy and Struma Lymphomatosa - A Case Report

E. V. van Zuilen¹ , F. J. M. Gabreëls¹ , W. O. Renier¹ , A. J. L. Pinckers² , H. J. ter Laak³ , A. M. Stadhouders⁴

¹Department of Child Neurology, Institute of Neurology, Radboud University Hospital, 6500 HB Nijmegen, The Netherlands
²Institute of Ophthalmology, Radboud University Hospital, 6500 HB Nijmegen, The Netherlands
³Institute of Neurology, Radboud University Hospital, 6500 HB Nijmegen, The Netherlands
⁴Institute of Submicroscopic Morphology, Radboud University Hospital, 6500 HB Nijmegen, The Netherlands

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Publication Date:
19 March 2008 (online)

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Abstract

A case is reported of a girl suffering from generalized hypertrophic myopathy and chorioretinal dystrophy since early infancy. A muscle biopsy taken at age seven revealed a general enlargement of the muscle fibers with a concomitant extensive degeneration of myofibrils. At age fourteen, the patient developed a struma lymphomatosa (Hashimoto). This report is the first describing an association of these three diseases.

Key words

Generalized hypertrophic myopathy - Chorioretinal dystrophy - Struma lymphomatosa