Shuaib Taghreed, Al-Hashmi Nadia, Ghaziuddin Mohammad, Megdad Eman, Abebe Dejene, Al-Saif Amr, Doubi Alaa, Aldhalaan Hesham, Abouzied Mohei Eldin, Al-Owain Mohammed
Department of Pediatrics, King Abdulaziz University, Jeddah, Saudi Arabia.
J Child Neurol. 2012 Jun;27(6):799-803. doi: 10.1177/0883073811426929. Epub 2011 Dec 7.
Propionic acidemia, an autosomal recessive disorder, is a common form of organic aciduria resulting from the deficiency of propionyl-CoA carboxylase. It is characterized by frequent and potentially lethal episodes of metabolic acidosis often accompanied by hyperammonemia. A wide range of brain abnormalities have been reported in propionic acidemia. We report recurrent visual hallucinations in 2 children with propionic acidemia. Four visual hallucination events were observed in the 2 patients. Three episodes were preceded by an intercurrent illness, and 2 were associated with mild metabolic decompensation. The 2 events in one patient were associated with a seizure disorder with abnormal electroencephalogram. Brain magnetic resonance imaging showed abnormal basal ganglia and faint temporo-occipital swelling bilaterally. This is probably the first report of visual hallucinations in propionic acidemia and should alert the treating clinicians to look for visual hallucinations in patients with organic acidurias, especially in an unusually anxious child.
丙酸血症是一种常染色体隐性疾病，是由于丙酰辅酶A羧化酶缺乏导致的一种常见有机酸尿症形式。其特征为频繁发作且可能致命的代谢性酸中毒，常伴有高氨血症。已有报道称丙酸血症患者存在多种脑部异常。我们报告了2例丙酸血症患儿出现反复视幻觉的情况。在这2例患者中观察到4次视幻觉事件。其中3次发作前有并发疾病，2次与轻度代谢失代偿有关。1例患者的2次事件与伴有脑电图异常的癫痫发作有关。脑部磁共振成像显示双侧基底节异常以及颞枕叶轻度肿胀。这可能是丙酸血症中视幻觉的首次报道，应提醒临床治疗医生在有机酸尿症患者中留意视幻觉，尤其是在异常焦虑的儿童中。
