Varadarajan Poovazhagi, Thayanathi Vimal, Pauline Leema C
Department of Pediatrics, Government Raja Mirasdar Hospital, Thanjavur Medical College, Thanjavur, India.
Department of Pediatrics, Institute of Child Health and Hospital for Children, Madras Medical College, Chennai, Tamil Nadu, India.
Ann Indian Acad Neurol. 2015 Jan-Mar;18(1):87-9. doi: 10.4103/0972-2327.144283.
Fazio Londe Syndrome is a rare neurological disorder presenting with progressive bulbar palsy with respiratory failure. Initially considered to have an unrelenting course, is now found to be due to mutations in the SLC52A3 gene which encodes the intestinal (hRFT2) riboflavin transporter in some children. We report an 11-year-old child with features of Fazio Londe syndrome who presented to our Institute with respiratory failure.
法齐奥·隆德综合征是一种罕见的神经系统疾病，表现为进行性延髓麻痹并伴有呼吸衰竭。该疾病最初被认为病程不可逆转，现在发现部分儿童患者是由于编码肠道（hRFT2）核黄素转运蛋白的SLC52A3基因突变所致。我们报告了一名11岁患有法齐奥·隆德综合征的儿童，该患儿因呼吸衰竭前来我院就诊。
