Labauge Pierre, Renard Dimitri, Castelnovo Giovanni, Sabourdy Frédérique, de Champfleur Nicolas, Levade Thierry
Service de Neurologie CHU de 30029 Nîmes Nîmes Cedex, France.
Clin Neurol Neurosurg. 2009 Jan;111(1):109-10. doi: 10.1016/j.clineuro.2008.09.007. Epub 2008 Nov 5.
Beta-mannosidosis (OMIM 248510) is an inborn lysosomal storage disorder caused by deficiency of beta-mannosidase activity. This enzyme is encoded by a single gene (MANBA), located on chromosome 4q22-25. This autosomal recessive disorder is characterized by a wide range of symptoms including mental retardation, behavioural problems, hearing loss, recurrent respiratory infections, angiokeratoma, facial dysmorphism, skeletal deformation, seizures, hypotonia, demyelinating polyneuropathy, and hepatosplenomegaly. The age of symptom onset is variable. We describe a 14-year clinical follow-up of a patient with beta-mannosidase deficiency with symptoms of mental retardation, progressive spasticity and cerebellar ataxia, a clinical spectrum that so far has never been reported in beta-mannosidosis. A novel mutation in the MANBA gene was found in our patient. Evoked potentials were in favour of a demyelinating pathology of the central nervous system. Serial MRI showed generalized cortical and subcortical atrophy in the absence of white matter changes suggesting an additional axonal pathophysiological component.
β-甘露糖苷贮积症（OMIM 248510）是一种由于β-甘露糖苷酶活性缺乏引起的先天性溶酶体贮积病。该酶由位于4号染色体q22-25区域的单个基因（MANBA）编码。这种常染色体隐性疾病的特征是出现多种症状，包括智力迟钝、行为问题、听力丧失、反复呼吸道感染、血管角质瘤、面部畸形、骨骼变形、癫痫发作、肌张力减退、脱髓鞘性多发性神经病以及肝脾肿大。症状出现的年龄各不相同。我们描述了一名患有β-甘露糖苷酶缺乏症患者的14年临床随访情况，该患者有智力迟钝、进行性痉挛和小脑共济失调症状，这种临床症状谱在β-甘露糖苷贮积症中迄今为止尚未见报道。我们的患者中发现了MANBA基因的一个新突变。诱发电位提示中枢神经系统存在脱髓鞘病变。系列磁共振成像显示在无白质改变的情况下出现广泛的皮质和皮质下萎缩，提示存在额外的轴突病理生理成分。
