Şule BÜYÜK, Ebru ARHAN, Betül DERİNKUYU, Şemsa ÇAYCI, Esra GÜNEY

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

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.

Anahtar Kelimeler:

Serebellar anomali, Bilişsel bozukluk, Böbrek hastalığı, Skolyoz

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

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,

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