title: Abnormal cerebrospinal fluid biochemistry in biotinidase deficiency causing diagnostic conundrum.
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.
authors.affiliation: 1Department of Paediatric Neurology, Addenbrooke's Hospital, Cambridge, United Kingdom.
authors.forename: Deepa
authors.initials: D
authors.lastname: Krishnakumar
authors.forename: Anna
authors.initials: A
authors.lastname: Maw
authors.forename: Richard
authors.initials: R
authors.lastname: Brown
authors.forename: Sarah
authors.initials: S
authors.lastname: Hogg
authors.forename: Jackie
authors.initials: J
authors.lastname: Calvin
authors.forename: Alasdair P J
authors.initials: AP
authors.lastname: Parker
mesh_terms: D000641:Ammonia / Q000134:cerebrospinal fluid*; D028921:Biotinidase Deficiency / Q000134:cerebrospinal fluid* / Q000150:complications; D004569:Electroencephalography; D004827:Epilepsy / Q000209:etiology; D005260:Female; D006801:Humans; D007223:Infant; D019344:Lactic Acid / Q000134:cerebrospinal fluid*; D008297:Male
chemical_list: D019344:Lactic Acid; D000641:Ammonia