West syndrome associated with glycogen storage disease type 1b

A girl born at 41 weeks of gestation experienced a seizure involving the extremities 12 hours after birth. Hypoglycemia was observed, although various tests failed to identify the cause of hypoglycemia. Thereafter, her development and weight gain were normal, and no hypoglycemia was observed. At five months of age, atypical spasms occurred concomitant with hypoglycemia. The patient was diagnosed with glycogen storage disease type 1b based on genetic testing. Hypsarrhythmia on electroencephalography (EEG) revealed West syndrome. The hypoglycemia were treated by continuous nasogastric tube feeding and neutropenia by injection of granulocyte-colony stimulating factor (G-CSF). The spasms and hypsarrhythmia did not improve by administration of oral antiepileptic drugs including vigabatrin. However, the symptoms improved with 0.011 mg/kg adrenocorticotropic hormone (ACTH) and G-CSF therapy, with no apparent adverse effects. ACTH was a safe treatment for an immunocompromised patient.