Infantile hypophosphatasia without bone deformities presenting with severe pyridoxine-resistant seizures.
Mol Genet Metab
; 111(3): 404-407, 2014 Mar.
Article
em En
| MEDLINE
| ID: mdl-24100244
ABSTRACT
An infant carrying a heterozygous c.43_46delACTA and a heterozygous c.668 G>A mutation in the ALPL gene with hypophosphatasia in the absence of bone deformities presented with therapy-resistant seizures. Pyridoxal phosphate was extremely high in CSF and plasma. Pyridoxine treatment had only a transient effect and the severe encephalopathy was fatal. Repeated brain MRIs showed progressive cerebral damage. The precise metabolic cause of the seizures remains unknown and pyridoxine treatment apparently does not cure the epilepsy.
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Texto completo:
1
Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Piridoxina
/
Epilepsia
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Hipofosfatasia
Limite:
Humans
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Infant
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Male
Idioma:
En
Revista:
Mol Genet Metab
Assunto da revista:
BIOLOGIA MOLECULAR
/
BIOQUIMICA
/
METABOLISMO
Ano de publicação:
2014
Tipo de documento:
Article
País de afiliação:
Holanda