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

Introduction and importance: 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. Case presentation: 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. Clinical discussion: 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. Conclusion: 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.