Brain atrophy in congenital neuromuscular disease with uniform type 1 fibers

We report a patient with congenital neuromuscular disease with uniform type 1 fibers. The patient had manifested muscle weakness and running difficulty since early childhood. Ptosis and ophthalmoplegia were evident, in addition to facial and distal weakness. Her serum creatine kinase level was norma...

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Bibliographic Details
Published in:Pediatric neurology 1997, Vol.16 (1), p.56-58
Main Authors: Jung, Eun-Young, Hattori, Haruo, Higuchi, Yoshihisa, Mitsuyoshi, Izuru, Kanda, Toyoko
Format: Article
Language:English
Subjects:
Atrophy
Biological and medical sciences
Blepharoptosis - congenital
Blepharoptosis - pathology
Brain - pathology
Cerebral Ventricles - pathology
Child
Dilatation, Pathologic
Diseases of striated muscles. Neuromuscular diseases
Electromyography
Female
Humans
Intellectual Disability - pathology
Medical sciences
Muscle Fibers, Slow-Twitch - pathology
Neurology
Neuromuscular Diseases - congenital
Neuromuscular Diseases - pathology
Ophthalmoplegia - congenital
Ophthalmoplegia - pathology
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Summary:We report a patient with congenital neuromuscular disease with uniform type 1 fibers. The patient had manifested muscle weakness and running difficulty since early childhood. Ptosis and ophthalmoplegia were evident, in addition to facial and distal weakness. Her serum creatine kinase level was normal, and electromyography revealed low-amplitude and short duration of motor unit potentials. A muscle biopsy specimen demonstrated absolute predominance of type 1 fibers (>98%) with no diagnostic structures. Her intelligence was borderline (IQ 80), and dilatation of the lateral ventricles was demonstrated by cranial CT. This is the first report of an abnormality in the central nervous system in congenital neuromuscular disease with uniform type 1 fibers.
ISSN:0887-8994
1873-5150
DOI:10.1016/S0887-8994(96)00231-7