Abnormal Cerebrospinal Fluid Biochemistry in Biotinidase Deficiency Causing Diagnostic Conundrum. (January 2014)

• Record Type: Journal Article
• Authors: Krishnakumar, Deepa; Maw, Anna; Brown, Richard; Hogg, Sarah; Calvin, Jackie; Parker, Alasdair P. J.
• Is Part Of: Journal of child neurology. Volume 29:Number 1(2014:Jan.)
• Page Start: 93
• Page End: 95
• Publication Date: 2014-01
• Subjects: infantile seizures -- biotinidase deficiency -- cerebrospinal fluid lactate; Nervous system -- Diseases -- Periodicals; 618.928
• DOI: 10.1177/0883073812467507
• Languages: English
• ISSNs: 0883-0738

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.