Biotinidase deficiency presenting with status epilepticus and cerebellar infarction in an infant: a case report

Biotinidase deficiency is a rare autosomal recessive metabolic disorder that can mimic mitochondrial or structural brain pathologies in neonates. Its presentation with cerebellar infarction and status epilepticus is highly unusual.

We report a 3-month-old male with consanguineous parentage who presented with recurrent tonic-clonic seizures, poor feeding, and lethargy. Neuroimaging revealed global cerebellar infarction and congenital vascular anomalies. The whole exome sequencing identified two homozygous variants in the BTD gene, including a likely pathogenic frameshift variant consistent with biotinidase deficiency. The patient improved with antiepileptics and supportive therapy including biotin and other micronutrients.

This case highlights the importance of considering biotinidase deficiency in infants with seizures and stroke-like imaging findings. Early genetic testing can guide targeted metabolic therapy and prevent long-term neurological sequelae.

Biotinidase deficiency should be considered in the differential diagnosis of infantile status epilepticus with structural brain lesions, especially in the context of consanguinity. Genetic screening plays a vital role in early detection and treatment.