Vigabatrin 投与が難治 West 症候群に有効であった先天性眼球異常を伴う COL4A1 関連疾患の 1 例

Aberrations in the COL4A1 gene lead to the faulty secretion of type IV collagen, resulting in damage to vascular basement membrane and various symptoms affecting multiple organs. Epilepsy associated with COL4A1-related disorder is often challenging to treat. We report a 5-year-old boy with developmental delay, congenital ocular abnormalities diagnosed with Peters anomaly, and abnormal neuroimaging findings. The patient had epileptic spasms starting at the age of 10 months and was diagnosed with West syndrome. Initial treatment, including adrenocorticotropic hormone(ACTH), was only transiently effective. At 1 year 9 months of age, vigabatrin(VGB)administration was introduced cautiously considering its potential adverse effects that might worsen ocular lesions. His seizures were suppressed with a modest dose(100 mg/kg/day)of VGB with no signs of electroretinogram abnormalities on repeated ophthalmological examinations. VGB was discontinued successfully at 3 years 6 months of age with no recurrence of seizures. A de novo pathogenic variant NM_001845.6:c.3620G> A(p.G1207E)was found in COL4A1. These findings suggest that VGB may be used effectively and safely in treating refractory West syndrome, even in patients with congenital ocular abnormalities associated with COL4A1-related disorder.