Abstract：
OBJECTIVE: To document the association of CAD-related disorder (EIEE-50) with cortical visual impairment.
METHODS: An 8-month-old Caucasian boy with whole genome sequencing confirming 2 variants in the gene CAD, who presented with severe seizures, microcephaly, hyperreflexia, hypotonia, anemia, and severe cortical visual impairment. Magnetic resonance imaging (MRI) of the brain noted thickened cortical gray matter along the right calcarine fissure as well as changes suggesting malformation of cortical development. Empiric uridine monophosphate supplementation has significantly improved seizure activity, hypotonia, and development and has led to resolution of anemia.
CONCLUSIONS: CAD-related disorder is treatable and may affect visual cortical development causing severe secondary cortical visual impairment, a newly described clinical manifestation.
METHODS: An 8-month-old Caucasian boy with whole genome sequencing confirming 2 variants in the gene CAD, who presented with severe seizures, microcephaly, hyperreflexia, hypotonia, anemia, and severe cortical visual impairment. Magnetic resonance imaging (MRI) of the brain noted thickened cortical gray matter along the right calcarine fissure as well as changes suggesting malformation of cortical development. Empiric uridine monophosphate supplementation has significantly improved seizure activity, hypotonia, and development and has led to resolution of anemia.
CONCLUSIONS: CAD-related disorder is treatable and may affect visual cortical development causing severe secondary cortical visual impairment, a newly described clinical manifestation.
摘要：
目的：记录CAD相关疾病（EIEE-50）与皮质视觉障碍的相关性。
方法：一个8个月大的高加索男孩，全基因组测序证实了CAD基因中的2种变异，出现严重癫痫发作的人，小头畸形,反射亢进,低张力,贫血,和严重的皮质视觉障碍。大脑的磁共振成像（MRI）注意到沿右侧钙质裂隙的皮质灰质增厚，以及提示皮质发育畸形的变化。经验性尿苷一磷酸补充剂显着改善了癫痫发作活动，低张力,和发展，并导致贫血的解决。
结论：CAD相关疾病是可以治疗的，可能会影响视觉皮层发育，导致严重的继发性皮层视觉障碍，一种新描述的临床表现。
方法：一个8个月大的高加索男孩，全基因组测序证实了CAD基因中的2种变异，出现严重癫痫发作的人，小头畸形,反射亢进,低张力,贫血,和严重的皮质视觉障碍。大脑的磁共振成像（MRI）注意到沿右侧钙质裂隙的皮质灰质增厚，以及提示皮质发育畸形的变化。经验性尿苷一磷酸补充剂显着改善了癫痫发作活动，低张力,和发展，并导致贫血的解决。
结论：CAD相关疾病是可以治疗的，可能会影响视觉皮层发育，导致严重的继发性皮层视觉障碍，一种新描述的临床表现。
