Department of Pediatrics, The Queen Silvia Children's Hospital, S-416 85 Göteborg, Sweden.
Eur J Paediatr Neurol. 2009 Nov;13(6):553-5. doi: 10.1016/j.ejpn.2008.11.003. Epub 2008 Dec 18.
Galactosialidosis (MIM 256540) is an autosomal recessive lysosomal storage disease caused by a defect of the protective protein/cathepsin A. Increased amounts of urinary sialic acid-rich oligosaccharides are considered to be an essential diagnostic marker of the disease. We here report a patient with atypical clinical features who consistently has excreted normal amounts of sialyloligosaccharides in the urine. The boy started to have attacks of neuropathic pain associated with hyperesthesia around 1(1/2) years of age. From 4 years of age when his vision was first tested, the patient developed progressive visual loss and at the age of 10 years, macular cherry-red spots were found. At this age, he also had a mild learning disability and clinical examination showed mild facial coarsening, increased lumbar lordosis and pyramidal signs in the legs. In conclusion, the clinical and laboratory features of this patient show that galactosialidosis may be considered in patients even in the absence of oligosacchariduria and that galactosialidosis should be regarded as a differential diagnosis in patients with neuropathic pain.
半乳糖脑苷脂贮积症（MIM 256540）是一种常染色体隐性溶酶体贮积病，由保护性蛋白/组织蛋白酶 A 的缺陷引起。尿中富含唾液酸的寡糖含量增加被认为是该疾病的重要诊断标志物。我们在此报告一例具有非典型临床特征的患者，其尿液中唾液酰寡糖的排泄量始终正常。该男孩在 1（1/2）岁左右开始出现伴有感觉过敏的神经病理性疼痛发作。从 4 岁开始首次检查视力时，患者出现进行性视力丧失，10 岁时发现黄斑樱桃红斑点。此时，他还存在轻度学习障碍，临床检查显示面部轻度粗糙、腰椎前凸增加和腿部锥体束征。总之，该患者的临床和实验室特征表明，即使没有寡糖尿症，也应考虑半乳糖脑苷脂贮积症，并且对于有神经病理性疼痛的患者，应将半乳糖脑苷脂贮积症视为鉴别诊断。
