Biotinidase deficiency: clinical and MRI findings consistent with myelopathy

Spastic paraparesis has been described in children with biotinidase deficiency and onset in later childhood and early adolescence. A 3-year-old male with biotinidase deficiency presented with rash, ataxia, and paraparesis and magnetic resonance imaging findings of myelopathy. Improvement occurred af...

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Bibliographic Details
Published in:Pediatric neurology 2003-07, Vol.29 (1), p.56-58
Main Authors: Wiznitzer, Max, Bangert, Barbara A
Format: Article
Language:English
Subjects:
Biological and medical sciences
Biotinidase Deficiency - pathology
Cervical Vertebrae - pathology
Child, Preschool
Humans
Magnetic Resonance Imaging - methods
Male
Medical sciences
Metabolic diseases
Miscellaneous
Other metabolic disorders
Spinal Cord - pathology
Spinal Cord Diseases - pathology
Thoracic Vertebrae - pathology
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Summary:Spastic paraparesis has been described in children with biotinidase deficiency and onset in later childhood and early adolescence. A 3-year-old male with biotinidase deficiency presented with rash, ataxia, and paraparesis and magnetic resonance imaging findings of myelopathy. Improvement occurred after treatment with biotin. Myelopathy should be added to the features that may be found on clinical examination and neuroimaging of children with biotinidase deficiency, regardless of age of presentation.
ISSN:0887-8994
1873-5150
DOI:10.1016/S0887-8994(03)00042-0