Profound biotinidase deficiency in a child with predominantly spinal cord disease.

@article{Chedrawi2008ProfoundBD,
  title={Profound biotinidase deficiency in a child with predominantly spinal cord disease.},
  author={Aziza K Chedrawi and Ayman Osman Ali and Zuhair N Al Hassnan and Muhammad Faiyaz-ul-Haque and Barry Wolf},
  journal={Journal of child neurology},
  year={2008},
  volume={23 9},
  pages={1043-8}
}
Biotinidase deficiency is an autosomal recessively inherited disorder that manifests during childhood with various cutaneous and neurological symptoms particularly seizures, hypotonia, and developmental delay. Spinal cord disease has been reported rarely. We describe a 3-year-old boy with profound biotinidase deficiency who presented with progressive spastic paraparesis and ascending weakness in the absence of the usual characteristic neurological manifestations. Supplementation with biotin… CONTINUE READING
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