Aim Congenital Myasthenic Syndromes (CMS) are rare hereditary neuromuscular junction diseases characterized by weakness the ocular, bulbar and skeletal muscles during infancy and childhood. CMS were divided three groups such as presynaptic, synaptic or postsynaptic. Main clinical features of presynaptic types are fatigue, apnea, dyspnea, ventilator dependence, ptosis and bulbar paralysis (1). Cognitive disability, dysmorphism, neuropathy, or epilepsy are rare. (2) Development of Whole Exome Sequencing(WES) leads us to discover much more mutation in CMS genes. (3). CHAT gene mutation is approximately 5% at CMS and a member of the presynaptic types (3). In this case report, we planned to pay attention about clinical features and treatment responses a patient extremely rare CHAT mutation.

Material and Method A 5-year-old male suffered from disability of walking, limping and fatigue during the infantile period. Initial symptoms started at 1 year 4 months aged. On physical examination truncal hypotonisity, muscle weakness, increased deep tendon reflexes and abnormal involuntary movements were detected. Autosomal recessive mutation in CHAT gene was detected in WES. Tracheostomy due to extubation failure during several hospitalizations in pediatric ICU. He is feeding via nasogastric way. His brain MRI showed cerebellar cortical atrophy and ventricular enlargement. (figure 1–2) During neurology follow-up EEG was performed on the patient with movement disorder and suspicious epileptic activity. EEG shows us polyspikes and spike-and-slow-wave pattern. (figure 3) He used pyridostigmine and haloperidol before seizures started. According to EEG results, levetiracetam treatment was also started and significant benefit was obtained.

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Abstract PP-047 Figure 1

Results Multiple genes were influence developement of CMS. WES should br performed in these patients to detect the related gene. Although CMS characterized mainly with muscle weakness and respiratory distress, our case diagnosed with epilepsy also.

Conclusions Co-occurrence of CMS and epilepsy reveals the necessity of fallow up in terms of accompanying systemic diseases, and larger studies are needed.