Abnormal cerebrospinal fluid biochemistry in biotinidase deficiency causing diagnostic conundrum.
J Child Neurol
; 29(1): 93-5, 2014 Jan.
Article
en En
| MEDLINE
| ID: mdl-23220796
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.
Palabras clave
Texto completo:
1
Colección:
01-internacional
Base de datos:
MEDLINE
Asunto principal:
Ácido Láctico
/
Deficiencia de Biotinidasa
/
Amoníaco
Tipo de estudio:
Diagnostic_studies
/
Etiology_studies
Límite:
Female
/
Humans
/
Infant
/
Male
Idioma:
En
Revista:
J Child Neurol
Asunto de la revista:
NEUROLOGIA
/
PEDIATRIA
Año:
2014
Tipo del documento:
Article
País de afiliación:
Reino Unido