Irilouzadian Rana, Goudarzi Ali, Hesami Hamed, Sarmadian Roham, Biglari Habibe Nejad, Gilani Abolfazl
Burn Research Center, Iran University of Medical Sciences, Tehran, Iran.
Iranian Center of Neurological Research, Neuroscience Institute, Tehran University of Medical Sciences, Tehran, Iran.
SAGE Open Med Case Rep. 2023 Mar 21;11:2050313X231160885. doi: 10.1177/2050313X231160885. eCollection 2023.
Canavan disease is a rare fetal inherited leukodystrophy, caused by accumulation of N-acetyl-aspartate in the brain. Here, we report a child presented with frequent intractable seizures and visual impairment. A 14-month-old female infant with a complaint of the absence of neck holding and generalized tonic-clonic seizures was referred to our hospital. Macrocephaly, setting sun eyes, tremor, and hypotonia were observed. Funduscopy showed optic atrophy. Our patient's flash visual evoked potential showed blindness. Her brain magnetic resonance imaging showed diffuse white matter in subcortical, basal ganglia, and dorsal pons. Electroencephalography showed diffuse slow and sharp waves. The genetic study detected a hemizygous mutation in the aspartoacylase gene. Our patient was diagnosed with Canavan disease and began anticonvulsant treatment. However, seizures were not under control. Then, her medications were discontinued, and clobazam and primidone were administered. In conclusion, starting clobazam and primidone may help prevent frequently intractable seizures in Canavan disease patients.
卡纳万病是一种罕见的胎儿遗传性脑白质营养不良，由大脑中N-乙酰天门冬氨酸蓄积所致。在此，我们报告一名出现频繁难治性癫痫发作和视力损害的儿童。一名14个月大的女婴因不能抬头和全身性强直阵挛发作前来我院就诊。观察到其有巨头畸形、落日眼、震颤和肌张力减退。眼底检查显示视神经萎缩。我们患者的闪光视觉诱发电位显示失明。她的脑部磁共振成像显示皮质下、基底神经节和脑桥背侧有弥漫性白质病变。脑电图显示弥漫性慢波和棘波。基因研究检测到天冬氨酸酰基转移酶基因的半合子突变。我们的患者被诊断为卡纳万病并开始抗惊厥治疗。然而，癫痫发作未得到控制。随后，停用了她的药物，并给予氯巴占和扑米酮。总之，开始使用氯巴占和扑米酮可能有助于预防卡纳万病患者频繁出现的难治性癫痫发作。
