Late presentation of biotinidase deficiency with acute visual loss and gait disturbance.

@article{Rahman1997LatePO,
  title={Late presentation of biotinidase deficiency with acute visual loss and gait disturbance.},
  author={Shamima Rahman and S. J. Standing and R. Neil Dalton and Michael G Pike},
  journal={Developmental medicine and child neurology},
  year={1997},
  volume={39 12},
  pages={830-1}
}
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… CONTINUE READING

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