{
  "abstract": "Biotinidase deficiency (BTD) is an inherited metabolic disorder with neurological, dermatological and metabolic manifestations. Clinical deterioration in adequately treated older children is uncommon and raises concerns regarding drug non-compliance, dosage adequacy or, rarely, evolving disease mechanisms. Here we report a middle childhood female with BTD diagnosed based on low biotinidase levels from infancy, and on supplementation with biotin. The patient presented with ataxia and encephalopathy following a febrile illness. The work-up for autoimmune, demyelinating and infectious aetiologies was negative, and later she had one episode of acute metabolic crisis. The child’s non-compliance with biotin for the last 3 months, and on restarting the child on biotin, along with symptomatic management of acute metabolic crisis, the child recovered. Drug non-compliance and management of acute metabolic crisis during intercurrent illness need to be emphasised. Knowledge of late-onset manifestations that can mimic demyelinating disorders prevents unnecessary workup.",
  "authors": [
    {
      "affiliations": [
        "Paediatric Neurology, Indira Gandhi Institute of Child Health, Bengaluru, Karnataka, India"
      ],
      "name": "Vykuntaraju K Gowda"
    },
    {
      "affiliations": [
        "Paediatric Neurology, Indira Gandhi Institute of Child Health, Bengaluru, Karnataka, India"
      ],
      "name": "Anagha C Badrinath"
    },
    {
      "affiliations": [
        "Paediatric Neurology, Indira Gandhi Institute of Child Health, Bengaluru, Karnataka, India"
      ],
      "name": "Varunvenkat M Srinivasan"
    },
    {
      "affiliations": [
        "Paediatric Neurology, Indira Gandhi Institute of Child Health, Bengaluru, Karnataka, India"
      ],
      "name": "Muskan P Verma"
    },
    {
      "affiliations": [
        "Paediatric Radiology, Indira Gandhi Institute of Child Health, Bengaluru, Karnataka, India"
      ],
      "name": "Amena Nayyer"
    }
  ],
  "title": "Biotinidase deficiency deterioration in the second decade, presenting as treatable cerebellar ataxia and encephalopathy masquerading as demyelination",
  "uid": "68986723-feae-54cc-9de6-3787365c939e"
}