Our study described only one patient with CHMP1A (PCH8) mutations showing regression, seizure, brainstem findings (hyperacusis, ptosis), cerebellar deficits (nystagmus, intentional tremor), ventriculomegaly, white matter abnormality, cardiovascular (patent ductus arteriosus, patent foramen ovale), EEG and VEP/ERG abnormalities, which differed from the literature. The gene discussed is CHMP1A; the disease is pathologic nystagmus.