Send to

Choose Destination
See comment in PubMed Commons below
Pediatr Neurol. 2011 Oct;45(4):261-4. doi: 10.1016/j.pediatrneurol.2011.06.010.

Biotinidase deficiency presenting as recurrent myelopathy in a 7-year-old boy and a review of the literature.

Author information

  • 1Department of Paediatric Neurology, P.D. Hinduja Hospital, Mumbai, India.


Biotinidase deficiency may produce variable neurologic manifestations. Brainstem and spinal cord disease comprises an uncommon presentation of biotinidase deficiency. We describe a 7-year old boy with subacute progressive quadriplegia and "sighing" respirations. Severe biotinidase deficiency was established, and the patient demonstrated complete recovery with biotin supplementation. Genetic studies revealed presence of homozygous mutation in the BTD gene [c.133C>T (p.H447Y)]. Biotinidase deficiency should be considered in the differential diagnosis for subacute, long segment myelopathy, particularly with brainstem involvement. This entity is treatable; a high index of suspicion can be life-saving. We also review the literature on biotinidase deficiency presenting as spinal cord demyelinating disease.

[PubMed - indexed for MEDLINE]
PubMed Commons home

PubMed Commons

How to join PubMed Commons

    Supplemental Content

    Full text links

    Icon for Elsevier Science
    Loading ...
    Support Center