Infantile hypophosphatasia without bone deformities presenting with severe pyridoxine-resistant seizures

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 tra...

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Bibliographic Details
Published in:Molecular genetics and metabolism 2014-03, Vol.111 (3), p.404-407
Main Authors: de Roo, Marieke G.A., Abeling, Nico G.G.M., Majoie, Charles B., Bosch, Annet M., Koelman, Johannes H.T.M., Cobben, Jan M., Duran, Marinus, Poll-The, Bwee Tien
Format: Article
Language:English
Subjects:
Alkaline phosphatase
Alkaline Phosphatase - genetics
Drug Resistance
Encephalopathy
Epilepsy - complications
Epilepsy - mortality
Epilepsy - pathology
Humans
Hypophosphatasia
Hypophosphatasia - blood
Hypophosphatasia - cerebrospinal fluid
Hypophosphatasia - genetics
Hypophosphatasia - mortality
Hypophosphatasia - pathology
Infant
Male
Pyridoxal Phosphate - blood
Pyridoxal Phosphate - cerebrospinal fluid
Pyridoxine - administration & dosage
Pyridoxine therapy
Seizures - genetics
Seizures - pathology
Therapy resistant seizures
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Summary: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. •The precise metabolic cause of the seizures in HPP remains unknown.•A curative therapy for the epilepsy of HPP is still not available.•The treatment in HPP with only seizures should be enzyme replacement therapy.
ISSN:1096-7192
1096-7206
DOI:10.1016/j.ymgme.2013.09.014