Schnitzler Eckbert S, Michelson Georg, Harazny Joanna, Winter Matthias, Lang Christoph, Bergua Antonio, Gusek-Schneider Gabriele C
Augenklinik mit Poliklinik der Universität Erlangen-Nuremberg.
Klin Monbl Augenheilkd. 2003 Jun;220(6):427-32. doi: 10.1055/s-2003-40270.
A variety of infectious and autoimmune diseases are described in association with pupillotonia. To our knowledge there is only one report on pupillotonia associated with hemiatrophia faciei. We describe another patient with this rare association. The aim is to investigate possible associations between both diseases.
A twenty five-year-old male patient with hemiatrophia faciei, epilepsy and pupillotonia of the right eye since his twelfth birthday was presented for the first time at the age of fourteen at our institution. The patient underwent a complete neurological and paediatric as well as otolaryngological investigation; there was also an investigation by the internist. The patient also underwent a complete serological investigation for infectious and autoimmune disorders as well as an investigation of the local and systemic vascular reactivity by the "Ocular cold pressor test". The follow-up time is 11 years.
The clinical picture of our patient was an association of hemiatrophia faciei, epilepsy and pupillotonia. There was no evidence of a local hyperactivity of the sympathetic nervous system. The serological investigation showed an elevated value of antinuclear antibodies.
We assume that in our case the pupillotonia as well as the hemiatrophia faciei and the epilepsy is caused by a common autoimmune factor. All other aetiologies for these three diseases were excluded. Furthermore, the occurrence of pupillotonia, hemiatrophia faciei and epilepsy was simultaneous.
多种感染性和自身免疫性疾病被描述为与瞳孔强直有关。据我们所知，仅有一篇关于瞳孔强直与面部偏侧萎缩相关的报道。我们描述了另一例存在这种罕见关联的患者。目的是研究这两种疾病之间可能的关联。
一名25岁男性患者，自12岁起患有面部偏侧萎缩、癫痫和右眼瞳孔强直，14岁时首次在我们机构就诊。患者接受了全面的神经科、儿科以及耳鼻喉科检查；内科医生也进行了检查。患者还接受了针对感染性和自身免疫性疾病的全面血清学检查，以及通过“眼冷加压试验”对局部和全身血管反应性的检查。随访时间为11年。
我们患者的临床表现为面部偏侧萎缩、癫痫和瞳孔强直并存。没有证据表明交感神经系统存在局部功能亢进。血清学检查显示抗核抗体值升高。
我们推测在我们的病例中，瞳孔强直以及面部偏侧萎缩和癫痫是由共同的自身免疫因素引起的。排除了这三种疾病的所有其他病因。此外，瞳孔强直、面部偏侧萎缩和癫痫是同时出现的。
