Skip to main content
Evidence-Based Supplement Research
Evidence-Based Supplement Research
Pillser
Search
Sign UpLog In

Screening for Biotinidase deficiency in children with spinal cord demyelination.

  • 2026-03
  • Multiple sclerosis and related disorders 107
    • Maha Mohammed
    • Iman El Agouza
    • Raghda Zaitoun
    • Khaled Ahmad
    • Shaimaa Mohammad
    • Ola Sallam
    • Hoda Tomoum

Study Design

Type
Observational
Population
39 children (≤18 years) with spinal cord demyelination
Methods
Prospective observational study; serum biotinidase enzyme activity measured in all participants

Introduction

Biotinidase deficiency (BD) is a disorder with autosomal recessive inheritance with protean clinical manifestations. Some cases present atypically with a neuroinflammatory phenotype that mimics neuromyelitis optica spectrum disorder. This can occur acutely in children who are otherwise normal leading to misdiagnosis and mismanagement with a potential for residual deficits.

Objective

To investigate biotinidase enzyme activity among children with presentation and radiological findings consistent with myelopathy.

Methods

This prospective observational study included children (≤18 years) admitted to the Pediatric Neurology Department, Ain Shams University Children's Hospital, with myelopathy and MRI evidence of spinal cord demyelination. Clinical, laboratory, ophthalmological, and neuroimaging data were systematically collected. Serum biotinidase enzyme activity was measured in all participants.

Results

Thirty-nine children with spinal cord demyelination were included (44% male), with a median age at onset of 9 years. BD was identified in four patients. Presenting features included progressive limb weakness and gait disturbance, with optic neuropathy observed in three patients. Neuroimaging consistently demonstrated longitudinally extensive transverse myelitis involving the cervical and/or thoracic spinal cord, frequently accompanied by brainstem signal abnormalities. Prior to diagnosis, patients received immunomodulatory therapies with limited or transient benefit. Following biotin supplementation, all patients demonstrated clinical improvement, with residual deficits observed in those with delayed diagnosis.

Conclusion

BD should be considered in the differential diagnosis of pediatric spinal cord demyelination, particularly in antibody-negative cases or those with suboptimal response to immunotherapy. Further studies incorporating immune biomarkers are needed to determine whether adjunctive management of inflammation, alongside metabolic correction, may improve neurological outcomes.

Research Insights

Back to top