Hisham Megahed, Ashraf Selim, Nadia Galal Elhefnawy, Amina Hindawy, Khaled Hamed
Our present study includes 72 Egyptian children diagnosed to suffer from cerebellar atrophy by brain MRI. All cases were subjected to detailed clinical examination, laboratory tests, neuro-physiological, neuro-radiological, and genetic studies using Whole-Exome Sequencing (WES). Accordingly, we stratified our cases into initial groups. Neuronal Ceroid Lipofuscinosis (NCL) is the most commonly identified disorder in the cohort. This is followed by metachromatic leukodystrophy, mitochondrial encephalopathy, adreno-leukodystrophy, Aicardi syndrome, and Joubert syndrome. Integration of proper clinical examination, laboratory investigations, neurophysiological, and neuro-radiological investigations are essential to prioritize the optimal further potential genetic assessment.