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Título

Paroxysmal non-kinesigenic dyskinesia (PNKD): case report

RESUMO

Case presentation: MCD, 4 months. Parents report that at 2 months of age, their child has been presenting dystonic episodes characterized by forced semiflexion of the left upper limb, elevation and hyperextension of the right upper limb (posture in swordsmanship), accompanied by hypertonia of the lower limbs. During episodes, the patient presents pain, facial redness and groaning, and at the end of the crisis, she demonstrates crying and irritability. Episodes are usually triggered when placed in the supine position and during the child's sleep. Its beginning was concomitant with the use of orthosis for aesthetic correction of positional plagiocephaly at 2 months of age. Exome and EEG without alterations. Female, born at 38 weeks and 5 days, vaginally, without gestational or neonatal complications. A 30-year-old father has a history of right temporal lobe epilepsy with spontaneous remission with oxcarbazepine use. Autistic maternal cousin – with tetrasomy of chromosome 15. At 4 months of age, oxcarbazepine 0.1 ml twice a day was started – increasing weekly to 0.5 ml 12/12h – 10 mg/kg/day. The patient evolved within a month with an 80% decrease in the number of events with oxcarbazepine use. Discussion: PNKD is part of a range of presentations of dyskinetic movement disorders. The typical presentation of this condition involves involuntary movements, resulting from sustained or intermittent muscle contractions. Triggers that can start an attack are caffeine use, alcohol use, stress, or a specific position. Because it is a rare condition, it is poorly studied and its pathophysiology is still not understood. Theories involve disinhibition of certain brain regions, such as the basal ganglia, inadequate GABAergic response in regions related to fine motor skills, structural changes in the brain, and are often associated with genetic alterations. There is debate as to whether these types of dyskinesia can be categorized as having an epileptogenic etiology, since in most cases there is no electroencephalographic alteration. Treatment usually consists of the use of anticonvulsants, with carbamazepine being the drug of choice. Comments on the case: the patient had an early onset of dyskinetic condition which is triggered by the supine position. There is a family history of epilepsy and autism, but the exome did not find known alterations. Laboratory tests and EEG without changes. The good response to the use of oxcarbazepine guided the therapy in this case.