Adams Oliver syndrome: Description of a new phenotype with cerebellar abnormalities in a family

Alessandra D'Amico; Daniela Melis; Felice D'Arco; Nilde Di Paolo; Barbara Carotenuto; Gennaro D'Anna; Carmela Russo; Pasquale Boemio; Arturo Brunetti

doi:10.12659/PJR.889531

Adams Oliver syndrome: Description of a new phenotype with cerebellar abnormalities in a family

Pol J Radiol. 2013 Oct;78(4):83-7. doi: 10.12659/PJR.889531. Epub 2013 Nov 19.

Authors

Alessandra D'Amico¹, Daniela Melis², Felice D'Arco¹, Nilde Di Paolo¹, Barbara Carotenuto¹, Gennaro D'Anna¹, Carmela Russo¹, Pasquale Boemio², Arturo Brunetti¹

Affiliations

¹ Department of Advanced Biomedical Sciences, Unit of Neuroradiology, Federico II University, Naples, Italy.
² Department of Translational Medical Sciences, Section of Pediatrics, Federico II University, Naples, Italy.

Abstract

Background: To describe cerebellar abnormalities in a family composed by a father and two affected sibs with Adams Oliver syndrome (AOS) (OMIM 100300).

Material/methods: Brain MRI and MR angiography were performed at 1.5T.

Results: The siblings presented cerebellar cortex dysplasia characterized by the presence of cysts.

Conclusions: Abnormalities of CNS are an unusual manifestation of AOS. To our knowledge, this is the first report of cerebellar cortical dysplasia in a family with AOS.

Keywords: Adams Oliver syndrome; MRI; cerebellar cortical dysplasia; cerebellar cysts.

Publication types

Case Reports