Roma E, Klontza D, Kairis M, Pangalis A, Karpouzas J, Matsaniotis N
Helv Paediatr Acta. 1984 May;39(2):145-51.
Familial hypobetalipoproteinaemia is a rare condition and is usually asymptomatic in heterozygotes. We report a case of hypobetalipoproteinaemia in an 8-month-old boy presenting with diarrhoea and failure to thrive since birth, who has been successfully treated with dietary restriction and large oral doses of vitamin E. This disease is one of the causes of chronic diarrhoea in childhood and its early treatment probably prevents irreversible retinal and nervous system lesions in later life.
家族性低β脂蛋白血症是一种罕见疾病，杂合子通常无症状。我们报告一例8个月大男孩的低β脂蛋白血症病例，该男孩自出生以来一直有腹泻和发育不良的症状，通过饮食限制和大剂量口服维生素E已成功治愈。这种疾病是儿童慢性腹泻的病因之一，早期治疗可能预防后期生活中不可逆转的视网膜和神经系统病变。
