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Esotropia as the initial manifestation in a case of Fukuyama congenital muscular dystrophy Keiichi Aomatsu 1 , Kousuke Abe 1 , Kazuki Kuniyoshi 1 , Yoshikazu Shimomura 1 , Hazime Yamamoto 2 , Akane Izu 3 , Hidehiko Yanagida 3 1Dept of Ophthalmol, Kinki Univ Sch of Med 2Dept of Ophthalmol, Kinki Univ Sch of Med Sakai Hosp 3Dept of Pediat, Kinki Univ Sch of Med pp.1315-1318
Published Date 2008/8/15
DOI https://doi.org/10.11477/mf.1410102356
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Abstract. Purpose:To report a case of congenital muscular dystrophy of Fukuiyama with esotropia as the initial manifestation. Case:A 3-month-old female baby was referred to us for esotropia. She was born by normal birth after gestation of 41 weeks with birthweight of 3,182g. Findings:Both eyes showed optic atrophy and retinochoroidal degeneration. Systemic studies showed weakness of muscles in extremities, elevation of serum creatine phosphokinase(CPK), and myogenic changes in biceps muscle. Magnetic resonance imaging(MRI)showed polymicrogyria in the cerebrum and cerebellar cystic lesions. These findings were suggestive of muscular dystrophy. Genetic analysis led to the diagnosis of Fukuyama congenital muscular dystrophy. Conclusion:This case illustrates that esotropia may be an initial sign of congenital muscular dystrophy.


Copyright © 2008, Igaku-Shoin Ltd. All rights reserved.

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