Yamamoto Hitoshi, Sasamoto Yuka, Miyamoto Yusaku, Murakami Hiroshi, Kamiyama Noriko
Department of Pediatrics, St. Marianna University School of Medicine, Kawasaki, Japan.
Pediatr Neurol. 2004 Mar;30(3):216-8. doi: 10.1016/j.pediatrneurol.2003.08.003.
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.
