Akduman H, Eminoglu T, Okulu E, Erdeve O, Atasay B, Arsan S
Genet Couns. 2016;27(4):509-512.
GRACILE Syndrome, is an autosomal recessive disease presenting with growth retardation, severe lactic acidosis, Fanconi type tubulopathy, cholestasis, iron overload and early death without any dysmorphological or neurological features. The BCSIL gene mutation is responsible for GRACILE syndrome, Bjornstad syndrome and complex III deficiency. Bjomstad syndrome is characterized by sensorineural hearing loss and abnormal flat twisted hair shafts. The case is GRACILE syndrome with Bjomstad phenotype in neonatal period due to BCSL1 gene mutation.
GRACILE综合征是一种常染色体隐性疾病，表现为生长发育迟缓、严重乳酸性酸中毒、范科尼氏肾小管病变、胆汁淤积、铁过载以及早期死亡，且无任何畸形或神经学特征。BCSIL基因突变导致GRACILE综合征、比约恩斯塔德综合征和复合体III缺乏症。比约恩斯塔德综合征的特征是感音神经性听力损失和异常扁平扭曲的毛干。该病例为新生儿期因BCSL1基因突变导致的具有比约恩斯塔德表型的GRACILE综合征。
