Toppet M, Vamos-Hurwitz E, Jonniaux G, Cremer N, Tondeur M, Pelc S
Acta Paediatr Scand. 1978 Jan;67(1):113-9. doi: 10.1111/j.1651-2227.1978.tb16287.x.
A case of Farber's disease associated with athyreosis is reported in a Belgian infant born from consanguineous parents. A detailed clinical observation made from the early onset of symptoms until death of the patient at age of 22 months, together with radiological, morphological and biochemical data confirmed the diagnosis of Farber's disease and its specific storage process. Cultured fibroblast studies disclosed an abnormal catabolism of ceramides, presumably related to the deficiency in lysosomal ceramidase. Family history confirms that the disease is inherited as an autosomal recessive trait.
本文报道了一例患有法伯病且伴有甲状腺缺失的比利时婴儿，其父母为近亲结婚。从症状初现直到患者22个月龄死亡进行了详细的临床观察，并结合放射学、形态学和生化数据，确诊为法伯病及其特定的贮积过程。培养的成纤维细胞研究显示神经酰胺分解代谢异常，推测与溶酶体神经酰胺酶缺乏有关。家族史证实该病为常染色体隐性遗传。
