Abstract
Neurometabolic diseases (NMD) are a frequent cause of epilepsy in children. Epilepsy is more frequently part of a complex clinical picture than a predominant symptom and may be of different types and various EEG patterns. The primary goal of this article is, departing from a large personal series, to describe the seizure type, EEG patterns and response to antiepileptic drugs in NMD and to discuss clinical value of epilepsy type in the setting of specific NMD. We found epilepsy was associated to NMD in 43.1%. Disorders of energy metabolism were the most frequent cause of epilepsy (61.3%). We observed generalized epilepsy in 75% of the patients with partial epilepsy in 25%. EEG was abnormal in only 71% of cases with variable patterns. Resistance to antiepileptic drugs was observed in 75% of cases. Valproate acid was incriminated in seizure worsening in 22.7% of the patients, all of them affected by mitochondriopathies.
Highlights
Inborn errors of metabolism (IEM) are a group of genetic disorders characterized by dysfunction of an enzyme or other protein involved in cellular metabolism [1]
Disorders of energy metabolism (such as mitochondriopathies, pyruvate dehydrogenase (PDH) deficiency and creatine metabolism deficiency) which accounted for 60% of all our Neurometabolic diseases (NMD) patients, accounted for the almost similar proportion of NMD patients with epilepsy (61.3%, 27/44). 25% (11/44) of the patients with NMD and epilepsy had a disorder of complex molecules, accounting for 25% of all our NMD patients
Half or the patients with NMD would present an epilepsy of various types that may be inaugural (50% of cases) of the disease or symptomatic of a metabolic decompensation
Summary
Inborn errors of metabolism (IEM) are a group of genetic disorders characterized by dysfunction of an enzyme or other protein involved in cellular metabolism [1]. Most IEMs involve the nervous system (neuro-metabolic diseases or NMD). NMD often present with a complex clinical picture: psychomotor retardation and/or regression, pyramidal signs, ataxia, hypotonia, movement disorders and epilepsy [1]. Epilepsy is more frequently part of this complex picture than a predominant symptom and presents with various clinical and EEG features. The primary goal of this article is, departing from a large personal series, to describe the seizure types, EEG patterns and response to antiepileptic drugs in NMD
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