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Journal of Child Neurology
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A Case of Cerebello-oculo-renal Syndrome with Situs Inversus Totalis: A New Phenotype

Secil Aydinoz, MD

Department of Pediatrics, GATA Haydarpasa Teaching Hospital, Istanbul, Turke,. saydinoz{at}gmail.com

Atilla Ersen, MD

Department of Pediatrics, GATA Haydarpasa Teaching Hospital, Istanbul, Turkey

Ferhan Karademir, MD

Department of Pediatrics, GATA Haydarpasa Teaching Hospital, Istanbul, Turkey

Selami Suleymanoglu, MD

Department of Pediatrics, GATA Haydarpasa Teaching Hospital, Istanbul, Turkey

Halit Ozkaya, MD

Department of Pediatrics, GATA Haydarpasa Teaching Hospital, Istanbul, Turkey

Ismail Gocmen, MD

Department of Pediatrics, GATA Haydarpasa Teaching Hospital, Istanbul, Turkey

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.

Key Words: Arima syndrome • situs inversus

Journal of Child Neurology, Vol. 22, No. 2, 204-207 (2007)
DOI: 10.1177/0883073807300303
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