Cerebello-oculo-renal syndromes are rare, autosomal recessive syndromes with uncertain nosology. Cerebello-oculo-renal syndromes involve many congenital malformations and may be associated with other disorders. The authors present a case of cerebello-oculo-renal syndrome with situs inversus totalis from a consanguineous family. The patient had cerebellar vermis hypoplasia, ocular abnormalities (Leber congenital amaurosis with retinal dystrophy, abnormal eye movements), developmental delay, growth deficiency, severe renal failure, and severe anemia. Imaging studies showed molar tooth sign, which was compatible with cerebello-oculo-renal syndromes and situs inversus totalis.
Saraiva JM, Baraitser M.Joubert syndrome: a review. Am J Med Genet.1992;43:726-731.
3.
Mubashir MA, Sabry MA, Farah S., et al. New syndromic entity of situs inversus totalis. Clin Dysmorphol. 1999;8:23-27.
4.
Pinar H., Rogers BBRenal dysplasia, situs inversus totalis, and multisystem fibrosis: a new syndrome . Pediatr Pathol. 1992;12: 215-221.
5.
Maria BL, Hoang KB, Tusa RJ, et al. “Joubert syndrome” revisited: key ocular motor signs with magnetic resonance imaging correlation. J Child Neurol.1997;12:423-430.
6.
Maria BL, Quisling RG, Rosainz LC, et al. Molar tooth sign in Joubert syndrome: clinical, radiologic, and pathologic significance. J Child Neurol.1999;14:368-376.
7.
Steinlin M., Schmid M., Landau K., Boltshauser E.Follow-up in children with Joubert syndrome. Neuropediatrics . 1997;28: 204-211.
8.
Satran D., Pierpont ME, Dobyns WBCerebello-oculo-renal syndromes including Arima, Senior-Loken and COACH syndromes: more than just variants of Joubert syndrome. Am J Med Genet.1999;86:459-469.
9.
Joubert M., Eisenring JJ, Robb JP, Andermann F.Familial agenesis of the cerebellar vermis: a syndrome of episodic hyperpnea, abnormal eye movements, ataxia, and retardation. Neurology . 1969;19:813-825.
10.
Matsuzaka T. , Sakuragawa N., Nakayama H., Sugai K., Kohno Y., Arima M.Cerebro-oculo-hepato-renal syndrome (Arima syndrome): a distinct clinicopathological entity. J Child Neurol.1986; 1:338-346.
11.
Kumada S., Hayashi M., Arima K., et al. Renal disease in Arima syndrome is nephronophthisis as in other Joubert-related cerebello-oculo-renal syndromes. Am J Med Genet.2004;131:71-76.
12.
Mubashir MA , Sabry MA, Farah S., et al. New syndromic entity of situs inversus totalis. Clin Dysmorphol. 1999;8:23-27.
13.
Pinar H., Rogers BBRenal dysplasia, situs inversus totalis, and multisystem fibrosis: a new syndrome . Pediatr Pathol. 1992;12: 215-221.
14.
Balci S., Bostanoglu S., Altinok G., Ozaltin F.New syndrome? Three sibs diagnosed prenatally with situs inversus totalis, renal and pancreatic dysplasia, and cysts. Am J Med Genet.2000;90: 185-187.
