Abstract
Rhombencephalosynapsis (RS) is an uncommon cerebellar malformation defi ned by vermian agenesis with fusion of the hemispheres and of the dentate nuclei. Very few cases have been reported in the literature. While the literature suggests that RS is often associated with behavioral and/or intellectual impairment, very few previous reports have described neuropsychological functioning. We report a 12-year-old male who was diagnosed with RS. The neurological examination revealed general hypotonia, brisk deep tendon refl exes, ataxic gait and dysarthria while neuropsychological evaluation revealed low verbal learning, attention and working memory subtest scores. He also had scoliosis and renal parenchymal disease, both conditions being reported very rarely in association with this anomaly. Our fi ndings suggest that RS is associated with cognitive impairment and often accompanied by other abnormalities
Keywords: Cerebellar abnormality, Intellectual disability, Kidney disease, Scoliosis
References
- Isaac M, Best P. Two cases of agenesis of the vermis of cerebellum, with fusion of the dentate nuclei and cerebellar hemispheres. Acta Neuropathol 1987;74:278-80.
- Sener RN. Unusual MRI Wndings in rhombencephalosynapsis. Comput Med Imaging Graph 2000;24:277-82.
- Schmahmann JD. An emerging concept: The cerebellar contributi- on to higher function. Arch Neurol 1991;48:1178-87.
- Toelle SP, Yalcinkaya C, Kocer N, Deonna T, Overweg-Plandsoen WC, Bast T, et al. Rombencephalosynapsis: Clinical fi ndings and neuroimaging in 9 children. Neuropediatrics 2002;33:209-14.
- Schmahmann JD. Disorders of the cerebellum: Ataxia, dysmetria of thought, and the cerebellar cognitive affective syndrome. J Neuropsychiatry Clin Neurosci 2004;16:367-78.
- Truwit CL, Barkovich AJ, Shanahan R, Maroldo TV. MR Imaging of Rhombencephalosynapsis: Report of three cases and review of the literature. AJNR Am J Neuroradiol 1991;12:957-65.
- Aydingoz U, Cila A, Aktan G. Rhombencephalosynapsis associated with hand anomalies. Br J Radiol 1997;70:764-6.
- Pavone P, Incorpora G, Ruggieri M. A complex brain malformationsyndrome with rhombencephalosynapsis, preaxial hexadactyly plus facial and skull anomalies. Neuropediatrics 2005;36:279-83.
- Cox PM, Gibson RA, Morgan N, Brueton LA. VACTERL with hydrocephalus in twins due to Fanconi anemia (FA): Mutation in the FAC gene. Am J Med Genet 1997;68:86-90.
- Elliott R, Harter DH. Rhombencephalosynapsis associated with autosomal dominant polycystic kidney disease Type 1. J Neurosurg Pediatr 2008;2:435-7.
