Yoshikawa K, Matsumoto M, Hamanaka M, Nakagawa M
Research Institute for Neurological Diseases and Geriatrics, Kyoto Prefectural University of Medicine, 465 Kawaramachi-Hirokoji, Kamigyo-ku, Kyoto 602-8566, Japan. kyoshikakoto.kpu-m.ac.jp
J Neurol Neurosurg Psychiatry. 2003 Sep;74(9):1312-4. doi: 10.1136/jnnp.74.9.1312.
A 44 year old right handed woman complained of difficulty in moving. She and her relatives had skin telangiectasia or recurrent epistaxis. On neurological examination, she had a mask-like facies and bradykinesia in both extremities. Laboratory examinations showed iron deficiency anaemia and mild liver dysfunction with raised serum manganese. On T1 weighted cranial magnetic resonance imaging there were hyperintense areas in the globus pallidus bilaterally, suggesting manganese deposition. Abdominal angiography confirmed multiple portal-systemic shunts in the liver, and a needle biopsy of the liver showed diffuse dilatation of the sinusoids with fatty change. Levodopa did not improve the bradykinesia. This appears to be a case of hereditary haemorrhagic telangiectasia with manganese induced parkinsonism, which may be a new type of neurological disorder in such patients.
一名44岁右利手女性主诉活动困难。她及亲属有皮肤毛细血管扩张或反复鼻出血。神经系统检查发现,她有面具样面容及双上肢运动迟缓。实验室检查显示缺铁性贫血、轻度肝功能不全伴血清锰升高。在T1加权头颅磁共振成像上,双侧苍白球有高信号区,提示锰沉积。腹部血管造影证实肝脏存在多处门体分流,肝脏穿刺活检显示肝血窦弥漫性扩张伴脂肪变性。左旋多巴未能改善运动迟缓。这似乎是一例遗传性出血性毛细血管扩张症合并锰诱导的帕金森综合征,这可能是此类患者中的一种新型神经系统疾病。