Hofmann Jan Bernhard, Gautschi Matthias, Vossenkaul Anja, Blanquet Marisa, Bremova-Ertl Tatiana
Department of Neurology, University Hospital Bern (Inselspital) and University of Bern, Bern, 3010, Switzerland.
Division of Pediatric Endocrinology, Diabetes and Metabolism, Department of Paediatrics, Inselspital, Bern University Hospital, University of Bern, Bern, 3010, Switzerland.
Eur Arch Otorhinolaryngol. 2025 May 6. doi: 10.1007/s00405-025-09416-7.
Alexander disease (AxD) is rare leukodystrophy caused by a mutation in the glial fibrillary acidic protein (GFAP) gene. Astrocyte dysfunction leads to myelinization disturbances and white matter damage, resulting in distinct neurological symptoms and neuroradiological findings.
Our patient, a 46-year old male, showed typical symptoms of AxD, including myoclonus of the soft palate, nystagmus, and cerebellar ataxia, as well as typical radiological findings found in AxD. The results of a device-based vestibular examination, including a video head-impulse test, showed a bilaterally decreased gain of vestibulo-ocular reflex of all semicircular canals suggestive of a bilateral vestibulopathy (BVP), a novel aspect of AxD. Symptomatic treatment of cerebellar ataxia and BVP with 4-aminopyridine (4-AP) led to an improvement of several device-examined vestibular parameters, but without subjective improvements in balance.
This case report describes BVP in a patient suffering from AxD, a novel phenotype of the disease. In leukodystrophies, such as AxD, central vestibular symptoms should be assessed early on to evaluate the potential use of 4-AP.
亚历山大病（AxD）是一种由胶质纤维酸性蛋白（GFAP）基因突变引起的罕见脑白质营养不良。星形胶质细胞功能障碍导致髓鞘形成障碍和白质损伤，从而产生明显的神经症状和神经影像学表现。
我们的患者是一名46岁男性，表现出AxD的典型症状，包括软腭肌阵挛、眼球震颤和小脑共济失调，以及AxD中常见的典型影像学表现。基于设备的前庭检查结果，包括视频头脉冲试验，显示所有半规管的前庭眼反射增益双侧降低，提示双侧前庭病变（BVP），这是AxD的一个新特征。用4-氨基吡啶（4-AP）对小脑共济失调和BVP进行对症治疗，导致几个经设备检查的前庭参数有所改善，但平衡方面没有主观改善。
本病例报告描述了一名患有AxD患者的BVP，这是该疾病的一种新表型。在诸如AxD等脑白质营养不良中，应尽早评估中枢前庭症状，以评估4-AP的潜在用途。
