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J Child Neurol. 2014 Jan;29(1):93-5. doi: 10.1177/0883073812467507. Epub 2012 Dec 6.

Abnormal cerebrospinal fluid biochemistry in biotinidase deficiency causing diagnostic conundrum.

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1
1Department 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.

KEYWORDS:

biotinidase deficiency; cerebrospinal fluid lactate; infantile seizures

PMID:
23220796
DOI:
10.1177/0883073812467507
[Indexed for MEDLINE]
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