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

Cognitive Impairment, Scoliosis and Renal Parenchymal Disease with Isolated Rhombencephalosynapsis: A Case Report

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

İzole Rombensefalosinapsis ile Birlikte Kognitif Bozukluk, Skolyoz ve Renal Parankimal Hastalık: Bir Olgu Sunumu

Rhombencephalosynapsis (RS) is an uncommon cerebellar malformation deﬁ ned by vermian agenesis with fusion ofthe hemispheres and of the dentate nuclei. Very few cases have been reported in the literature. While the literaturesuggests that RS is often associated with behavioral and/or intellectual impairment, very few previous reports havedescribed neuropsychological functioning. We report a 12-year-old male who was diagnosed with RS. The neurologicalexamination revealed general hypotonia, brisk deep tendon reﬂ exes, ataxic gait and dysarthria while neuropsychologicalevaluation revealed low verbal learning, attention and working memory subtest scores. He also had scoliosis and renalparenchymal disease, both conditions being reported very rarely in association with this anomaly. Our ﬁ ndings suggestthat RS is associated with cognitive impairment and often accompanied by other abnormalities.

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