Cognitive Impairment, Scoliosis and Renal Parenchymal Disease ognitive Impairment, Scoliosis and Renal Parenchymal Disease with Isolated Rhombencephalosynapsis

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

İzole Rombensefalosinapsis ile Birlikte Kognitif Bozukluk, Skolyoz ve Renal Parankimal Hastalık

Abstract

Rombensefalosinapsis serebeller hemisferlerler ve dentat nukleusların füzyonu ile serebeller vermisinagenezisi veya hipogenezisi ile karakterize, nadir görülenbir serebellar anomalidir. Literatürde davranış ve/veya entelektüel bozuklukla ilişkili olduğundan bahsedilmiş ancak nöropsikolojik fonksiyonları bildiren az sayıda olgu bildirilmiştir. Rombensefalosinapsisli 12 yaşında bir erkek olgu bildirilmiştir. Nörolojik muayenesinde genel hipotoni, derin tendon refleksleri canlı, ataksik duruş ve dizartrisi vardı ve nöropsiklojik değerlendirmesinde sözel öğrenme, dikkat ve çalışma becerisi alt testlerinde düşük puan almıştı. Skolyoz ve renal parankimal hastalık gibi bu anomali ile birlikteliği çok nadir olan buguları da mevcuttu. Bu bulgular rombensefalosinapsisin bilişsel bozukluk ve diğer anomalilerlerle birlikteliğini vurgulamaktadır.

Keywords

• Serebellar anomali
• Bilişsel bozukluk
• Böbrek hastalığı
• Skolyoz

References

1. 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.
2. Sener RN. Unusual MRI Wndings in rhombencephalosynapsis. Comput Med Imaging Graph 2000;24:277-82.
3. Schmahmann JD. An emerging concept: The cerebellar contributi- on to higher function. Arch Neurol 1991;48:1178-87.
4. 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.
5. Schmahmann JD. Disorders of the cerebellum: Ataxia, dysmetria of thought, and the cerebellar cognitive affective syndrome. J Neuropsychiatry Clin Neurosci 2004;16:367-78.
6. 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.
7. Aydingoz U, Cila A, Aktan G. Rhombencephalosynapsis associated with hand anomalies. Br J Radiol 1997;70:764-6.
8. Pavone P, Incorpora G, Ruggieri M. A complex brain malformationsyndrome with rhombencephalosynapsis, preaxial hexadactyly plus facial and skull anomalies. Neuropediatrics 2005;36:279-83.

9. 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.
10. Elliott R, Harter DH. Rhombencephalosynapsis associated with autosomal dominant polycystic kidney disease Type 1. J Neurosurg Pediatr 2008;2:435-7.