Kossowski J, Stadnicka B, Kazibutowska Z
Neurol Neurochir Pol. 1986 Jul-Aug;20(4):371-3.
In a man aged 28 years abdominal pains with constipation appeared, and were followed after 2 weeks by generalized maximal epileptic seizures, gradually progressing signs of proximal polyneuropathy, numerous brownish patches on the face and trunk, and hepatomegaly. In the urine raised levels were found of delta aminolaevulinic acid, prophobilinogen, coproporphyrins and uroporphyrins. Examination of stools demonstrated an increase of protoporphyrins and coproporphyrins, with prevalence of the former, characteristic of porphyria variegata. A gradual regression of changes was observed after treatment with high doses of propranolol and intravenous glucose infusions.
一名28岁男性出现腹痛伴便秘,2周后出现全身性癫痫大发作,近端多神经病症状逐渐加重,面部和躯干有多处褐色斑,肝脏肿大。尿液中δ-氨基乙酰丙酸、胆色素原、粪卟啉和尿卟啉水平升高。粪便检查显示原卟啉和粪卟啉增加,以前者为主,这是杂色卟啉病的特征。高剂量普萘洛尔治疗和静脉输注葡萄糖后,观察到病情逐渐缓解。