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Biotinidase deficiency presenting as Neuromyelitis Optica Spectrum Disorder.

Snehal Shah1, Najm Khan2, Rahul Lakshmanan3

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|August 4, 2020
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Summary

Biotinidase deficiency can present with unusual neurological symptoms mimicking other disorders. Early diagnosis and biotin treatment are crucial for managing this rare inherited metabolic condition.

Keywords:
Biotinidase Deficiency Disorder Gene-BTDgeneBiotinidase deficiency-BTDDemyelination disordersMultiple Sclerosis-MSNeuromyelitis optica spectrum disorder-NMSOD

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Area of Science:

  • Metabolic Disorders
  • Neuroimmunology
  • Genetics

Background:

  • Biotinidase deficiency is a rare inherited metabolic disorder.
  • Typical symptoms include hypotonia, developmental delay, seizures, and sensory impairments.

Observation:

  • Two cases presented with atypical neurological profiles and neuroimaging resembling Neuromyelitis Optica Spectrum Disorder.
  • Case 1 showed progressive spinal MRI changes despite immunomodulatory treatment.
  • Case 2 presented with respiratory symptoms and bulbar dysfunction.

Findings:

  • Both cases were diagnosed with biotinidase deficiency after further investigation.
  • Elevated lactate and alanine levels in cerebrospinal fluid were noted in Case 1.
  • Neuroimaging in both cases showed similarities suggestive of demyelinating disorders.

Implications:

  • Highlights the importance of considering biotinidase deficiency in atypical neurological presentations.
  • Emphasizes that biotinidase deficiency can mimic immune-mediated demyelinating diseases.
  • Underscores the treatable nature of biotinidase deficiency with biotin supplementation.