Kuldeep Dhariwal
NMC Speciality Hospital Al Nahda
Abstract Title:Case Report of RANBP2 Mutation and Familial Acute Necrotizing Encephalopathy
Biography:
Currently working as a Specialist Pediatrician in NMC SPECIALITY HOSPITAL, DUBAI, I have been working in NMC for the past 10 years, As a Specialist Pediatrician, I have my own OPD & IPD. I also manage my ICU cases with utmost responsibility. I have also worked as a Pediatric Neonatology in the Ministry of Health, Maternity Hospital, KUWAIT for 4.5 years. Certified in PALS-Pediatric Advanced Life Support, BLS-Basic Life Support, and NRP- Neonatal Resuscitation Program. I regularly take part in national and international conferences and as a speaker, I have presented various medical topics in several CMEs. I have 20 years of experience in the field of Pediatric and Neonatology. I am practicing pediatrics including all sub-specialties and I am specialized in treating children with respiratory conditions , allergies, asthma, development issues, and issues related to weight and height.
Research Interest:
Abstract
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 .
CASE : Retrospective analysis of clinical data and radiographic studies on ANE case
6 years old female 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 bilateral abnormal signal intensity areas seen bilateral thalami, left external capsule, medial temporal lobe, mid brain, pons & medulla oblongata. 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.
Three years before this child 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). 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. Child gradually recovered. Child was discharge in cheerful, interactive but in mute condition. She remained seizure free for two years on valproate.
Conclusions: Familial ANE is a rapidly progressive encephalopathy associated a RANBP2 gene mutation.