J Pediatr Neurol
DOI: 10.1055/s-0038-1675580
Case Report
Georg Thieme Verlag KG Stuttgart · New York

Child with Susceptibility to Infection-Induced Acute Encephalopathy 3

Ayman Khalil
1  Neuroscience Department, Salmaniya Medical Complex, Ministry of Health, Kingdom of Bahrain
,
Husain Malalla
2  Pediatrics Department, Salmaniya Medical Complex, Ministry of Health, Kingdom of Bahrain
,
Husain Naser
3  Radiology Department, Salmaniya Medical Complex, Ministry of Health, Kingdom of Bahrain
,
Ahood Almuslamani
1  Neuroscience Department, Salmaniya Medical Complex, Ministry of Health, Kingdom of Bahrain
› Author Affiliations
Further Information

Publication History

24 July 2018

27 September 2018

Publication Date:
06 November 2018 (eFirst)

Abstract

A 10-month-old Bahraini boy born full-term to first-degree cousins, initially had normal developmental milestones, but presented with recurrent encephalopathy and seizures associated with upper respiratory tract infection. With each attack, the patient developmentally regressed further. Brain magnetic resonance imaging showed multiple old and new infarcts. Cerebrospinal fluid biochemistry, microbiology, and amino acids were unremarkable. Tandems mass spectrometry of urine organic acids was unremarkable as well. Electroencephalogram showed asymmetry with cortical irritability. Whole exome sequencing revealed a homozygous mutation of RAN-binding protein 2 gene, suggesting a diagnosis of susceptibility to infection-induced acute encephalopathy 3, which is an autosomal dominant condition. This is the first case to be reported in Bahrain.