Uyama E, Hirano T, Ito K, Nakashima H, Sugimoto M, Naito M, Uchino M, Ando M
First Department of Internal Medicine, Kumamoto University School of Medicine, Japan.
Acta Neurol Scand. 1994 Mar;89(3):175-83. doi: 10.1111/j.1600-0404.1994.tb01657.x.
Chédiak-Higashi syndrome (CHS) in children can be a fatal disease. We describe the oldest known CHS patient first seen with a neurologic disorder in early adult life. From the age of 22, this 39-year-old woman developed mental deterioration, parkinsonism including resting tremor at the tongue, mandible, and hands, oculogyric crisis, muscular atrophy of limbs, and loss of tendon reflexes. MRI showed marked temporal dominant brain atrophy and diffuse spinal cord atrophy. Partial albinism, pan-leukocytic giant granules, and profoundly decreased NK-cell activity were compatible with childhood CHS, but apparently normal neutrophil function prolonged her survival. Stimulated proliferation of lymphocytes was less than 40% that of normal controls.
儿童的希戴克-希格斯综合征（CHS）可能是一种致命疾病。我们描述了已知年龄最大的CHS患者，该患者在成年早期首次出现神经系统疾病。这位39岁的女性从22岁起出现精神衰退、帕金森综合征，包括舌头、下颌和手部的静止性震颤、动眼危象、肢体肌肉萎缩以及腱反射消失。磁共振成像（MRI）显示明显的以颞叶为主的脑萎缩和弥漫性脊髓萎缩。部分白化病、全白细胞巨型颗粒以及自然杀伤细胞（NK细胞）活性显著降低与儿童期CHS相符，但中性粒细胞功能明显正常延长了她的生存期。淋巴细胞的刺激增殖低于正常对照的40%。
