PP03.16 – 2713: Metabolic disorder disguises in pediatric neurology practice

Abstract

Objective To present the case of a male pediatric patient aged 2 years, who was admitted to our Department for brief paroxysmal episodes consisting in left hemiplegia, with sudden onset and ending. To study the paraclinical aspects and evolution of a condition with metabolic substrate and atypical clinical manifestations. Methods The child has been evaluated clinically and para-clinically during periodical admissions within one year, since the onset of the symptoms. We performed a full blood count, thrombophilia workup and testing for metabolic disorders. Repeated wake and sleep electroencephalographic recordings, a cerebral MRI and a cardiologic evaluation were also performed. The evolution under treatment with topiramate and later on, with levetiracetam, was noted. Results The neurologic examination of the patient was normal, except for a relative delay in the acquisition of expresssive language. The thrombophilia workup revealed a homozigous A1298C mutation in the MTHFR gene. Intermittent orotic aciduria was found. The seric homocysteine, folate, vitamin B12 were normal. The cardiologic evaluation was normal. All of the electroencephalograms performed over time were normal. The cerebral MRI was normal. The paroxysmal episodes remitted under treatment with topiramate, which the patient took for 7 months. The treatment was switched to levetiracetam, taking into consideration the parents' concern for the child's cognitive development. Under this treatment, the patient was also free of paroxysmal episodes. Conclusion The case illustrates a possible interconnected mechanism of production of the paroxysmal episodes described above. Initially, their clinical aspect pointed us towards three possible diagnoses: epileptic seizures, recurrent transient ischemic attacks (TIA) and hemiplegic migraine. The paraclinical tests favored the TIA hypothesis, with a combined, metabolic and hypercoagulability, substrate. Although no pathological electroencephalographic patterns were found, the epileptic hypothesis remains supported by the positive evolution under antiepileptic treatment, not only topiramate which could also be linked to migraine, but also levetiracetam.