Case presentation: Girl, 5 years old, she had not gestational and neonatal complications her parents is consanguineous. She neuropsychomotor developmental delay (NDD) dysphagia for solids at 6 months. At 2 cognitive impairment, motor with axial ataxia, appendicular hypotonia dysmetria. Her symptoms progressively worsening associated pyramidal signs. Cerebellar atrophy increased arachnoid space ...
