Literature DB >> 9597908

[Complicated form of spastic paraplegia with congenital cataract: a case report].

H Hirabayashi1, W Takahashi, N Shinohara, T Hata, Y Shinohara.   

Abstract

We report a 33-year-old man who manifested spastic paraplegia with congenital cataract, dementia, deformity of the foot (pes cavus, high arch and hammer toes), ataxia, and peripheral neuropathy. Magnetic resonance imaging showed mild deformity of the trunk of the corpus callosum and atrophy of superior cerebellar vermis. Metabolic diseases were ruled out by the clinical course and special examinations. Other patients, including 2 of ours, with spastic paraplegia and thin corpus callosum have been reported, but the present case is different because of congenital cataract and the form of the corpus callosum. We consider that there may be a variety of complicated forms of spastic paraplegia. To assess the etiology of complicated forms of spastic paraplegia, further case accumulation is very important.

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Year:  1998        PMID: 9597908

Source DB:  PubMed          Journal:  Rinsho Shinkeigaku        ISSN: 0009-918X


  1 in total

1.  Mutations in SLC33A1 cause a lethal autosomal-recessive disorder with congenital cataracts, hearing loss, and low serum copper and ceruloplasmin.

Authors:  Peter Huppke; Cornelia Brendel; Vera Kalscheuer; Georg Christoph Korenke; Iris Marquardt; Peter Freisinger; John Christodoulou; Merle Hillebrand; Gaele Pitelet; Callum Wilson; Ursula Gruber-Sedlmayr; Reinhard Ullmann; Stefan Haas; Orly Elpeleg; Gudrun Nürnberg; Peter Nürnberg; Shzeena Dad; Lisbeth Birk Møller; Stephen G Kaler; Jutta Gärtner
Journal:  Am J Hum Genet       Date:  2012-01-13       Impact factor: 11.025

  1 in total

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