4H leucodystrophy phenotypical variation among two brothers: a case report

Case presentation: Patient 1: V.U.F, male, 14 years old. When he was 3 old the patient presented with ataxic gait and recurrent falls. Ataxia worsened during 8 after first presentation. He had low school performance developed myopia. Family history: great-grandmother ataxia at age of 32 died when she 59. has a brother similar clinical condition. The adequate height, absence lower central incisor teeth, upper limb dysmetria Tanner G1P1. Dysdiadochokinesis, unstable amplitude reduction, without Romberg signal, tendril dancing were observed. Scale for Assessment Rating (SARA) performed: 17.5. Electroneuromyography showed demyelinating sensory polyneuropathy. CGH array normal. Magnetic Resonance Imaging (MRI) brain cerebellar atrophy, particularly vermix, diffuse symmetrical hypomyelination cerebral hemispheres, reduction corpus callosum. Spectroscopy 2: I.U.F, 10 old, 1. 4 his accompanied by mild ataxia. difficulties, being unable to read or write, complaint academic lack attention aggressiveness home school. not able mention name address Enamel teeth well formed. Joint hypermobility, fine tremor, SARA 3, G1P1 Brain MRI discrete thinning callosum, bilateral alteration white matter significant change in T1. Exoma performed both patients mutation POLR3B gene found.