Positive outcome following early diagnosis and treatment of pyridoxal-5'-phosphate oxidase deficiency: a case report

Porri, Stéphanie; Fluss, Joel Victor; Plecko, Barbara; Paschke, Eduard; Korff, Christian; Kern, Ilse

doi:10.1055/s-0033-1353489

Scientific article

Case report

English

Positive outcome following early diagnosis and treatment of pyridoxal-5'-phosphate oxidase deficiency: a case report

Contributors

Porri, Stéphanie; Fluss, Joel Victor; Plecko, Barbara; Paschke, Eduard; Korff, Christian

; Kern, Ilse

Published in

Neuropediatrics, vol. 45, no. 1, p. 64-68

Publication date

2014

Abstract

Pyridoxal-5'-phosphate oxidase (PNPO) deficiency is a rare autosomal recessive, vitamin-responsive metabolic disorder causing refractory neonatal seizures that respond to the administration of pyridoxal-5'-phosphate (PLP). There are currently few case studies that have documented the functional outcome in PNPO deficiency, which remains poor in the majority of cases. We present the case of a male infant born at 35 weeks gestation who promptly responded to oral administration of PLP, following resistance to common anticonvulsive therapy and to a pyridoxine trial. Neurological outcome at 21 months is favorable and illustrates the importance of standardized vitamin trials in the acute setting of "therapy-resistant" neonatal seizures. Early recognition of PNPO deficiency and appropriate intervention might be associated with a more favorable outcome than initially considered.

Keywords

Brain Diseases, Metabolic/diagnosis/drug therapy
Humans
Hypoxia-Ischemia, Brain/diagnosis/drug therapy
Infant, Premature
Infant, Premature, Diseases/diagnosis/drug therapy
Male
Phosphoric Monoester Hydrolases/therapeutic use
Pyridoxaminephosphate Oxidase/deficiency
Seizures/diagnosis/drug therapy
Treatment Outcome

UNIGE affiliation entities

Faculté de médecine / Section de médecine clinique / Département de pédiatrie, gynécologie et obstétrique

Citation (ISO format)

PORRI, Stéphanie et al. Positive outcome following early diagnosis and treatment of pyridoxal-5′-phosphate oxidase deficiency: a case report. In: Neuropediatrics, 2014, vol. 45, n° 1, p. 64–68. doi: 10.1055/s-0033-1353489

Article (Published version)

Identifiers

PID : unige:48446
DOI : 10.1055/s-0033-1353489
PMID : 24297574

Journal ISSN

0174-304X

600views

1downloads

Creation

24/03/2015 14:57:00

First validation

24/03/2015 14:57:00

Update

14/03/2023 23:03:48

Status update

14/03/2023 23:03:48

Last indexation

30/10/2024 23:38:07

Positive outcome following early diagnosis and treatment of pyridoxal-5'-phosphate oxidase deficiency: a case report

Contributors

Published in

Publication date

Abstract

Keywords

UNIGE affiliation entities

Citation (ISO format)

Main files (1)

Identifiers

Journal ISSN

Technical informations

Creation

First validation

Update

Status update

Last indexation