PLEKHG5 mutation: a rare cause of Charcot-Marie-Tooth disease

Case presentation: Fifteen year-old male, brown skin, with non-consanguineous parents and a previous diagnosis of intellectual deficiency and attention deficit hyperactivity disorder. When the patient was ten years old the symptoms began with gait impairment, bilateral foot drop and calf pain. The symptoms progressed and 7 months before our clinical evaluation the patient also started presenting muscle contracture in both upper limbs with no sensitive complaints. In the physical exam there was distal limb muscle weakness in the regions from ulnar, mediane and fibular nerve and bilateral claw hand. There was no muscle atrophy and the only area with sensitive impairment was apalesthesia on the left hallux. Bilateral slapping gait was also noticed. The findings included a brain MRI with a discreet prominence in the lateral ventricles and elevated serum creatine kinase (1400mg/dl). Needle electromyography showed a chronic sensory-motor polyneuropathy affecting all four limbs with a myelin-axonal pattern. The genetic painel presented a pathogenic mutation in heterozygous on the HINT1 and in homozygous on PLEKHG5, both associated with an intermediary type C form of Charcot- Marie-Tooth (CMT).