Jameson R A, Holt P J, Keen J H
Booth Hall Children's Hospital, Manchester.
Ann Rheum Dis. 1987 Jul;46(7):559-61. doi: 10.1136/ard.46.7.559.
The patient presented with progressive joint deformity, a hoarse voice, subsequent cachexia, and myoclonic seizures. She was first seen aged 22 months and died aged 6 years. A diagnosis of Farber's disease was made by demonstrating a deficiency of acid ceramidase both in leucocytes and fibroblasts.
该患者出现进行性关节畸形、声音嘶哑、随后恶病质和肌阵挛性癫痫发作。她首次就诊时22个月大，6岁时死亡。通过证明白细胞和成纤维细胞中酸性神经酰胺酶缺乏，诊断为法伯病。
