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Abnormal cerebrospinal fluid biochemistry in biotinidase deficiency causing diagnostic conundrum
Deepa Krishnakumar1, Anna Maw, Richard Brown
11Department of Paediatric Neurology, Addenbrooke's Hospital, Cambridge, United Kingdom.
Abstract:
Biotinidase deficiency is a treatable cause of infantile epilepsy and the presentation can be nonspecific. The seizures are difficult to differentiate from other causes of epileptic encephalopathy, which generally have a poor prognosis. We report 2 infants who presented with seizures, and whose low cerebrospinal fluid glucose and high cerebrospinal lactate caused a diagnostic dilemma. Subsequent urine organic acids pointed to the correct diagnosis and avoided invasive investigation. The children had a good clinical outcome with resolution of their seizures on biotin treatment.
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