Document Detail

Abnormal Cerebrospinal Fluid Biochemistry in Biotinidase Deficiency Causing Diagnostic Conundrum.
MedLine Citation:
PMID:  23220796     Owner:  NLM     Status:  Publisher    
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.
Deepa Krishnakumar; Anna Maw; Richard Brown; Sarah Hogg; Jackie Calvin; Alasdair P J Parker
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Publication Detail:
Type:  JOURNAL ARTICLE     Date:  2012-12-6
Journal Detail:
Title:  Journal of child neurology     Volume:  -     ISSN:  1708-8283     ISO Abbreviation:  J. Child Neurol.     Publication Date:  2012 Dec 
Date Detail:
Created Date:  2012-12-10     Completed Date:  -     Revised Date:  -    
Medline Journal Info:
Nlm Unique ID:  8606714     Medline TA:  J Child Neurol     Country:  -    
Other Details:
Languages:  ENG     Pagination:  -     Citation Subset:  -    
1Department of Paediatric Neurology, Addenbrooke's Hospital, Cambridge, United Kingdom.
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