Drug - resistant myoclonic epilepsy of childhood presenting as possible epilepsy with myoclonic atonic seizures after long - term video - EEG telemetry. Pinelopi Dragoumi 1,2 , Fiona Chivers 1 , Megan Brady 1 , Sheila Craft 1 , David Mushati 1 , Raj Karuvattil 1,2 , Godwin Oligbu 1,2 , Krishna Das 1,2 J Helen Cross 1,2,3 1. Young Epilepsy, Lingfield, Surrey, UK 2. Great Ormond Street Hospital for Children, London, UK 3. UCL-Institute of Child Health, London UK Introduction The syndromic classification of epilepsies is an important achievement in modern epileptology. The diagnosis of an epileptic syndrome allows doctors to provide the most possible prognosis and to choose the most appropriate treatment for each patient. Myoclonic seizures are not characteristic of only one specific epileptic syndrome. In infancy and childhood, often they are an expression of potential genetic epilepsies, related to the coexistence of other types of seizures and some degree of mental impairment in the absence of structural brain damage. Objective – case presentation We present a patient who developed myoclonic seizures at the age of nine months and was diagnosed initially as myoclonic epilepsy of infancy. The initial development was normal and myoclonic seizures started as reflex but subsequently manifested without stimulus, many times a day. Semiology: Episodes were described as generalized myoclonic jerks of the shoulder girdle and upper limb, not leading to fall with increased frequency on awakening in times of illness, anxiety or in the presence of increased temperature. No correlation with fasting is described. Besides myoclonic seizures, no other seizure types are described. There is no family history of epilepsy or febrile convulsions. Management: The patient was treated with clobazam, valproate, topiramate, levetiracetam, pyridoxine and clonazepam sequentially without achieving seizure control. Either no response was seen or significant adverse effects on neuropsychological level developed, so all medication was discontinued in the last one year.. Investigations: Extensive etiological investigations for metabolic diseases were negative. Glucose levels in the CSF were normal, but genetic testing revealed a polymorphism of the SLC2A1 gene, of unclear significance. Purpose: After nine years of drug resistance without syndromic classification of epilepsy and incipient learning disabilities from the age of 6 years, the patient was referred for video-telemetry to record and characterize seizures in order to further determine the type of epilepsy and to attempt a syndromic classification. 1. Panayiotopoulos CP. Importance of specifying the type of epilepsy. Lancet 1999, 354, 2002-2003. 2. Guerrini R1, Aicardi J. Epileptic encephalopathies with myoclonic seizures in infants and children (severe myoclonic epilepsy and myoclonic-astatic epilepsy). J Clin Neurophysiol. 2003 Nov-Dec;20(6):449-61. 3. Oguni H, Fukuyama Y. et al. Myoclonic-astatic epilepsy of early childhood--clinical and EEG analysis of myoclonic-astatic seizures, and discussions on the nosology of the syndrome. Brain Dev. 2001 Nov; 23(7):757-64. 4. Scheffer IE, Wallace R, Mulley JC, Berkovic SF. Clinical and molecular genetics of myoclonic-astatic epilepsy and severe myoclonic epilepsy in infancy (Dravet syndrome). Brain Dev. 2001 Nov; 23(7):732-5. 5. Shan Tang and Deb K. Pal. Dissecting the genetics of myoclonic-astatic epilepsy. Epilepsia, 53(8):1303-1313,2012. 6. Auvin S, Lamblin MD, Cuvellier JC, Vallée L. A patient with myoclonic epilepsy in infancy followed by myoclonic astatic epilepsy. Seizure. 2012 May ;21(4):300-3. 7. Caraballo RH, Cersósimo RO, Sakr D et al. Ketogenic diet in patients with myoclonic-astatic epilepsy. Epileptic Disord. 2006 Jun;8(2):151-5. 9 ο Epilepsy Congress of Greece - Athens 17-19 October 2014 Method A three-day video-EEG recording was performed. From the beginning of the study electrodes were applied for electromyographic (EMG) recording on the neck and deltoids, and the second day extra electrodes were applied on the upper arm and forearm. Results Frequent generalized discharges of spike/polyspike and slow waves 3-5 Hz were recorded with simultaneous clinical manifestations, which are mostly myoclonic seizures (Figure 3). Additionally, marked atonic elements in EMG neck and deltoid are recorded associated on the EEG with the slow component of the above epileptic discharges and manifested clinically by sudden head drop only or a sudden drop of the head and the upper limbs (Fig.1, 2). The atonic and myoclonic seizures occur in various combinations, with atonia sometimes preceding and other times following the myoclonus. Conclusions  The EEG findings are suggestive of a primarily generalized epilepsy characterized mainly by myoclonic seizures with occasional atonic elements and some rare absences.  Clinical and electrical features support the possible diagnosis of epilepsy with myoclonic atonic seizures, which could justify both the resistance of seizures to various antiepileptic medications and the borderline cognitive-neuropsychological impairment.  In this case, apart from conventional antiepileptic drugs, the ketogenic diet could be considered as a potential therapeutic option in the future. References Fig. 1. Atonia in EMG neck (arrow) associated with the slow waves of the discharge following polyspikes. Fig. 2. Myoclonic seizures associated with increased neck EMG but loss of deltoid tone during slow wave component Fig. 3. Multiple myoclonic seizures with no atonic component. Fig. 4. Polyspikes followed by generalized 4Hz spike and wave discharges. View publication stats View publication stats