Novel Mutation in the POLR1C Gene Causing Hypomyelinating Leukodystrophy in an Adult

We report a case of a 35-year-old male who presented with progressive difficulty in walking with frequent tripping, falling after buckling of knees, difficulty in climbing stairs and swaying while walking for the past 6 months. History was significant for features of subnormal intelligence since childhood and poor scholastic performance. The patient also exhibited behavioral disturbances in the form of aggressive behavior, anger outbursts, excessive talking, and talking to self. The patient was born of a consanguineous marriage. On physical examination, he had tall stature and large ears with no clinical evidence of hypogonadism. No evidence of hypodontia was noted. Neurologic examination revealed cerebellar signs such as ataxia, dysmetria and intention tremors. Pyramidal signs were prominent in lower limbs. Cognitive impairment was also noted.