Key result
Biotin supplementation in an infant with biotinidase deficiency resulted in cessation of seizures and normalization of brain MRI findings by 3 months of age.
Case Report (n=1)
No
Brain MR imaging in an infant with biotinidase deficiency showed supra- and infratentorial white matter signal-intensity changes.
May support reversible MRI changes with biotin; hypothesis-generating for serial imaging in biotinidase deficiency.
A previously healthy 7-week-old male infant was admitted because of clonic movements of the upper limbs. Findings of a neurologic examination were normal. His psychomotor development was appropriate for his age. Brain MR imaging showed supra- and infratentorial white matter signal-intensity
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Soares‐Fernandes et al. (2009) conducted a case report in Biotinidase deficiency (n=1). Biotin supplementation was evaluated on Clinical and radiological response. Biotin supplementation in an infant with biotinidase deficiency resulted in cessation of seizures and normalization of brain MRI findings by 3 months of age.
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