Abstract:
:An unusual presentation of biotinidase deficiency is described. The disorder classically presents in infancy or early childhood with intractable seizures, hypotonia, ataxia, hearing loss, dermatitis, and alopecia. A 5-year-old girl developed acute visual loss associated with optic atrophy, and disturbance of gait with predominantly lower-limb pyramidal signs. She had no seizures, and skin, hair, hearing, and intellect were normal. Biotinidase deficiency was confirmed biochemically and she responded well to biotin therapy. A diagnosis of biotinidase deficiency should be considered in children with unexplained bilateral optic neuropathy, particularly when there is accompanying gait disorder.
journal_name
Dev Med Child Neuroljournal_title
Developmental medicine and child neurologyauthors
Rahman S,Standing S,Dalton RN,Pike MGdoi
10.1111/j.1469-8749.1997.tb07552.xsubject
Has Abstractpub_date
1997-12-01 00:00:00pages
830-1issue
12eissn
0012-1622issn
1469-8749journal_volume
39pub_type
杂志文章abstract::Sixty children who had recovered from purulent meningitis one to six years earlier were investigated for long-term impairment of brain and auditory function, using brainstem auditory evoked potentials(BAEP) and developmental screening tests. Neurological and/or audiological BAEP abnormalities were found in 23 per cent...
journal_title:Developmental medicine and child neurology
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pub_type: 杂志文章,meta分析,评审
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更新日期:2008-06-01 00:00:00
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pub_type: 临床试验,杂志文章
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更新日期:2010-12-01 00:00:00
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doi:10.1111/j.1469-8749.2008.03028.x
更新日期:2008-10-01 00:00:00
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更新日期:1998-08-01 00:00:00
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