Adult-onset leukoencephalopathy with axonal spheroids and pigmental glia with diffuse cerebral microbleeds; case report.
Adult-onset leukoencephalopathy with axonal spheroids and pigmental glia with diffuse cerebral microbleeds; case report.
复制标题
成人发病的白质脑病，伴有轴突球体和色素胶质细胞，伴有弥漫性脑微出血；
DOI：
10.1007/s13760-022-02110-z
复制
发表时间：
2023
影响因子：
2.7
通讯作者：
Ikeuchi T
中科院分区：
文献类型：
--
作者：
Wada K;Ishikawa R;Ikeuchi T
成人发病伴轴突球体和色素胶质的白质脑病（ALSP）是一种常染色体显性白质疾病，具有多种初始症状，包括认知、精神和/或运动功能障碍。出现症状的平均年龄为43岁，最终导致痴呆和死亡的平均年龄为53岁。ALSP患者在表型方面表现出显著的变异性，因此经常被误诊为其他疾病。1984年，瑞典的一个家庭首次报道了ALSP，随后在2012年确定了集落刺激因子1受体（CSF1R）突变为该疾病的病因。磁共振成像结果经常显示相对对称的白质病变，明显发生在额叶和顶叶皮层，脑萎缩但没有明显的灰质病理，胼胝体变薄[2,3]。然而，脑微出血（CMBs）在ALSP病例中的发生率据报道仅为1%(2)或未观察到[4,5]，因此在患者中被认为是非常罕见的。本报告提出一例ALSP与广泛的CMBs。关于公布数据和照片，已获得患者的书面知情同意。一名40多岁的男子被诊断患有高血压，但没有接受药物治疗。他身高142厘米，没有已知的激素或骨骼异常。
Adult-onset leukoencephalopathy with axonal spheroids and pigmental glia (ALSP) is an autosomal dominant white matter disease with a variety of initial symptoms, including cognitive, psychiatric, and/or motor dysfunction. The average age for onset of symptoms is 43 years, with the disease eventually leading to dementia and death at an average age of 53 years [1]. Patients with ALSP show significant variability in regard to phenotype, thus have often been misdiagnosed with other diseases. In 1984, the first report of ALSP in a Swedish family was presented, while mutations in the colony-stimulating factor 1 receptor (CSF1R) were later identified as the cause of this disease in 2012 [1]. Magnetic resonance imaging findings frequently show relatively symmetrical white matter lesions with pronounced occurrence in the frontal and parietal cortex, cerebral atrophy without a significant grey matter pathology, and thinning of the corpus callosum [2, 3]. However, the frequency of cerebral microbleeds (CMBs) in ALSP cases has been reported to be only 1%(2) or not observed [4, 5], thus it is thought to be very rare in affected patients.This report presents a case of ALSP with extensive CMBs. Written informed consent regarding publishing the data and photographs was obtained from the patient. A man in his 40s was shown to have hypertension, though did not receive medication. His stature was short at 142 cm, and there were no known hormonal or skeletal abnormalities.