Joubert syndrome with congenital hepatic fibrosis: An entity in the spectrum of oculo‐encephalo‐hepato‐renal disorders

Abstract

Joubert syndrome is an autosomal recessive inherited condition characterized by agenesis or hypoplasia of the cerebellar vermis, retinal dystrophy, chorioretinal colobomata, oculomotor abnormalities, episodic hyperpnea, ataxia, and mental retardation. Congenital hepatic fibrosis has not previously been described in Joubert syndrome. We report two unrelated children with Joubert syndrome and hepatosplenomegaly. On histopathological examination, both had congenital hepatic fibrosis. Both were also found to have congenital medullary cystic disease of the kidneys. Joubert syndrome appears to be one of a spectrum of congenital malformation syndromes involving the central nervous system, eye, liver and kidneys.

Joubert-like syndrome unlinked to known candidate loci

“…[11][12][13][14][15] An association of CVH with both chorioretinal coloboma and renal disease has also been reported in 15 patients including four sib pairs. 7, [16][17][18][19][20][21] The renal abnormalities in these cases were variably described as medullary cystic renal disease, as mild autosomal recessive polycystic kidney disease, as nephronophthisis, and as interstitial fibrosis. In these patients, abnormal eye movements and mental retardation were also recorded.…”

The biliary atresia splenic malformation syndrome: A 28-year single-center retrospective study

“…26 One infant had a defined chromosomal anomaly (microdeletion at chromosome 7) with a phenotype of aortic coarctation, atrial septic defect, ventricular septal defect, situs inversus, polysplenia, preduodenal portal vein, and type 3 biliary atresia (possible WilliamsBeuren syndrome).…”

Cerebello-oculo-renal syndromes including Arima, Senior-L�ken and COACH syndromes: More than just variants of Joubert syndrome

“…The remainder had other retinal abnormalities such as retinal dystrophy, retinal atrophy, retinal pigmentary changes, or fundus flavus. Another 24 patients had a coloboma of the posterior pole, including 3 patients who had colobomas of both the anterior and posterior poles [Lewis et al, 1994;Menenzes and Coker, 1990;Verloes and Lambotte, 1989]. Affected sibs were always concordant for the type of eye abnormality, although we did find reports of 2 sporadic patients with both retinopathy and colobomas [Aicardi et al, 1983;Keuth et al, 1996].…”

“…The neurological abnormalities were similar to those in the Joubert and Senior-Löken syndromes, including abnormalities of respiratory rhythm and eye movements. The colobomas predominantly involved the posterior pole, although 3 patients had both anterior and posterior pole colobomas [Lewis et al, 1994;Menenzes and Coker, 1990;Verloes and Lambotte, 1989]. Juvenile nephronophthisis was reported in only 2 patients, whereas liver fibrosis was detected in 11 of 25 patients, which is more common (or at least better documented) than in the other syndromes reviewed.…”

“…1985; Kumar and Rankin, 1996;Lewis et al, 1994;Matsuzaka et al, 1986;Thompson and Baraitser, 1986;Verloes and Lambotte, 1989;Weisner et al, 1992].…”