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PP-044 Congenital myasthenic syndrome and epilepsy; a rare case report
  1. Diren Su Birgün1,
  2. Pakize Cennetoğlu2,
  3. Pınar Arıcan2,
  4. İhsan Kafadar2,
  5. Merve Çakmak2
  1. 1University of Health Sciences Turkey, Başakşehir Çam and Sakura City Hospital, Clinic of Pediatrics, Istanbul, Turkey
  2. 2University of Health Sciences Turkey, Başakşehir Çam and Sakura City Hospital, Clinic of Pediatric Neurology, Istanbul, Turkey


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, neuropathy or epilepsy are rare (2). Development of Whole Exome Sequencing(WES) leads us to discover much more mutation in CMS genes. 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 a patient extremely rare CHAT mutation and co-occurrence of CMS and epilepsy.

Material and Method The clinical information of a 5-year-old male suffered from disability of walking, limping and fatigue during the infantile period who attended the pediatric neurology clinic at Basaksehir Cam and Sakura City Hospital was reviewed. When his initial symptoms started, truncal hypotonisity, muscle weakness, increased deep tendon reflexes and abnormal involuntary movements were detected on physical examination. After considering the clinical diagnosis, whole exome sequencing was performed for genetic diagnosis. During neurology follow-up EEG was performed on the patient with movement disorder and suspicious epileptic activity.

Results Autosomal recessive mutation in CHAT gene was detected in WES and pyridostigmine treatment was started. On the follow up, during several hospitalizations in pediatric ICU, tracheostomy was performed due to extubation failure. He is feeding via nasogastric way. His brain MRI showed cerebellar cortical atrophy and ventricular enlargement. He used pyridostigmine and haloperidol before seizures started. EEG shows us polyspikes and spike-and-wave activity. (figure 1) Levetiracetam treatment was started after detection epileptic activity and significant benefit was obtained.

Abstract PP-044 Figure 1

Polyspikes and spike-and-wave activity on EEG.

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

  • Congenital myasthenic syndrome
  • CHAT mutation
  • Epilepsy

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