A successful treatment with pyridoxal phosphate for West syndrome in hypophosphatasia.

Abstract

We report a 2-month-old male with West syndrome associated with infantile hypophosphatasia. The male infant was born at term to a healthy mother after an uneventful pregnancy. He was born by cesarean section because of breech presentation. He was observed to have short extremities, and radiographs were consistent with achondroplasia. The serum alkaline phosphatase level was 2 IU/dL. Intractable tonic seizures developed 2 days after birth, and an electroencephalogram revealed a burst-suppression pattern for the first 2 months of life. The seizures were uncontrollable with conventional antiepileptic drugs. At the age of 2 months, he had a series of infantile spasms, and the electroencephalogram indicated hypsarrhythmia. Treatment with high-dose pyridoxal phosphate eliminated his seizures.

• Authors: Hitoshi Yamamoto, Yuka Sasamoto, Yusaku Miyamoto, Hiroshi Murakami, Noriko Kamiyama
• Journal: Pediatric neurology (Pediatr Neurol) Vol. 30 Issue 3 Pg. 216-8 (Mar 2004) ISSN: 0887-8994 [Print] United States
• PMID: 15033207 (Publication Type: Case Reports, Journal Article)

Chemical References

• gamma-Aminobutyric Acid
• Pyridoxal Phosphate

Topics

• Chromatography, High Pressure Liquid
• Dose-Response Relationship, Drug
• Electroencephalography (drug effects)
• Fatal Outcome
• Follow-Up Studies
• Humans
• Hypophosphatasia (diagnosis, drug therapy)
• Infant
• Infant, Newborn
• Male
• Pyridoxal Phosphate (therapeutic use)
• Spasms, Infantile (diagnosis, drug therapy)
• Treatment Outcome
• gamma-Aminobutyric Acid (cerebrospinal fluid)