OP-068 Case report of RANBP2 mutation and familial acute necrotizing encephalopathy

Aim Acute necrotizing encephalitis(ANE) is a rare disorder present with encephalopathy that typically develop within 1–4 days post acute viral infection This Infection-induced acute encephalopathy 3 (IIAE3) is an autosomal dominant disease resulting from a pathogenic variant in the RANBP2 gene. IIAE3 results in the susceptibility to the recurrence of acute necrotizing encephalopathy (ANE1) which presents as bi- lateral symmetric thalamic, midbrain and/or hindbrain lesions. Material and Method Retrospective analysis of clinical data and radiographic studies on ANE case. Results 6 year old girl was admitted with complaints of fever, vomiting, headache since last 4–5 days. On fifth day of illness she developed unprovoked seizure. Child had intractable convulsion so intubated & ventilated for 9 days. During hospital stay child was in semiconscious stage (Glassgow coma scale - 7). Child gradually recovered. Child was discharge in cheerful, interactive but in mute condition. She remained seizure free for two years on valproate. Influenza B was positive. Her CSF was normal except high protein. EEG showed right centro- temporo parietal epileptiform abnormalities. Brain MRI showed bilateral thalamic & spinal cord lesion with edematous pons. Child received antibiotic, oseltamivir, intravenous pulse of methylprednisolone, antiepileptics. After 3 years child was again admitted with c/o fever, cough. Within 24 hours child developed drowsiness, disorientation then after few hours she developed seizures. She was intubated & mechanically ventilated in view of progressive deterioration in her sensorium. EEG showed waves of diffuse encephalopathy. MRI Brain showed same finding. CSF Analysis were sterile, After 3 months she developed unsteadiness of gait, tremulousness of hands, pendicular eye movements in both eye, weight gain & behavior & personality changes. Clinical exmome study showed heterozygous RANBP2 mutation on Exon 12 at c.1752A>T(p.LYS584ASN)position. Conclusions Familial ANE is a rapidly progressive encephalopathy associated a RANBP2 gene mutation.