Joubert syndrome with nephronophthisis: a clinicopathological analysis

WANG Ming-yue; ZENG De-hua; ZENG Ye-ting; ZHENG Zhi-yong

doi:10.3969/j.issn.1007-8096.2018.03.007

Abstract：Purpose To investigate the clinical,image characteristics,pathologic features and genetic cause of Joubert syndrome with nephronophthisis,and to further improve the recognition of the disease.Methods The clinical data,laboratory examination,imaging data,pathology diagnosis of renal biopsy and genetics of the Joubert syndrome with nephronophthisis were analyzed retrospectively,with review of some pertinent literatures.Results The patient,7 years old boy,whose clinical manifestation was pale and sallow looking,was found abnormal renal function for 12 days;on kidney MRI there were more round cysts;Cranial MRI showed cerebellar vermis hypoplasia,"mildline cleft","molar tooth sign " and " bat-wing";clinical manifestation of the child displayed multiorgan dysplasia,such as slower growth and mental retardation,lower muscle tension,abnormal eye movement,and special face;the pathology diagnosis of the renal biopsy was renal tubular atrophy and interstitial fibrosis;the tubular basement membrane was thickening or thinning,layered and teared irregularly,and in the renal interstitial there were some lymphocytes and plasma cells;gene detection showed that the child with RPGRIP1 L was gene homozygous mutation,and whose parents were heterozygous mutation.Conclutions In this case,the cerebellar vermis hypoplasia and the characteristics of clinical manifestations result from Joubert syndrome;the special renal tubular and renal interstitial changes,gene RPGRIP1L mutation,together with clinical analysis can be clearly diagnosed as Joubert syndrome (type 7) with nephronophthisis.