학술논문
Abnormal Cerebrospinal Fluid Biochemistry in Biotinidase Deficiency Causing Diagnostic Conundrum.
Document Type
Case Study
Author
Source
Subject
*CEREBROSPINAL fluid
*CHILDHOOD epilepsy
*PROGNOSIS
*SPASMS
*BIOTIN
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Language
ISSN
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. [ABSTRACT FROM AUTHOR]