Birnbaum D C, Shields D, Lippe B, Perlman S, Phillipart M
Department of Neurology, UCLA School of Medicine 90024-1752.
Arch Neurol. 1989 Sep;46(9):1001-3. doi: 10.1001/archneur.1989.00520450071022.
A distinctive syndrome of diabetes insipidus developed in four boys in early childhood and progressive spastic cerebellar ataxia developed in adolescence. The boys have been observed for 12 to 19 years and are currently 19 to 25 years old. In patient 1, 12 years after the onset of diabetes insipidus and 4 years after the onset of spastic cerebellar ataxia, bone lesions that proved to be histiocytosis were detected. In patient 2, calcification that developed in the cerebellar dentate nuclei was similar to calcification described in patients with histiocytosis. In the other two patients, an etiologic diagnosis has not been established. We conclude that there is a distinctive syndrome characterized by early diabetes insipidus with subsequent progressive spastic cerebellar ataxia. While histiocytosis may not account for this complex syndrome in all cases, diabetes insipidus followed by progressive spastic cerebellar ataxia merits intensive evaluation.
四名男孩在幼儿期出现了一种独特的尿崩症综合征，并在青春期出现了进行性痉挛性小脑共济失调。这些男孩已被观察了12至19年，目前年龄在19至25岁之间。在患者1中，尿崩症发病12年后和痉挛性小脑共济失调发病4年后，检测到经证实为组织细胞增多症的骨病变。在患者2中，小脑齿状核出现的钙化与组织细胞增多症患者描述的钙化相似。在另外两名患者中，病因诊断尚未确立。我们得出结论，存在一种独特的综合征，其特征为早期尿崩症伴随后续进行性痉挛性小脑共济失调。虽然组织细胞增多症可能并非在所有情况下都能解释这种复杂的综合征，但尿崩症后出现进行性痉挛性小脑共济失调值得进行深入评估。
