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Revista Espanola de Medicina Nuclear, vol.25, no.4, pp.258-262, 2006 (Scopus)
Joubert syndrome is a severe autosomal recessive disorder, which is characterized by hypotonia, impaired psychomotor development, retinal dystrophy with abnormal ocular movements and cerebellar vermis agenesis with dilatation of the fourth ventricle. Joubert syndrome type B is a developmental disorder of the nephronophtisis complex with multiple organ involvement. Although this syndrome is rare, since first described by Joubert et al in 1969, there have been several cases about the components and the chromosomal abnormalities related with it. Here we report 2 patients with Joubert syndrome in whom renal involvement was demonstrated by ultrasonography as renal cystic disorders which represented nephronophtisis. For each patient we performed renal cortical scintigraphy with 99mTc-DMSA (99mtechnetium- dimercaptosuccinic acid) which showed bilaterally decreased radiopharmaceutical uptake in kidneys due to tubulointerstitial nephropathy. Scintigraphy may have a great value in the diagnosis and evaluation of the presence and severity of renal involvement in Joubert syndrome since it can evaluate kidney parenchyma and functioning renal tissue.