J Korean Med Sci.  2019 May;34(19):e143. 10.3346/jkms.2019.34.e143.

Acute Necrotizing Encephalopathy in Children: a Long Way to Go

• Lee YJ
• Hwang SK
• Kwon S

• KMID: 2445801
• DOI: http://doi.org/10.3346/jkms.2019.34.e143

Abstract

BACKGROUND
Acute necrotizing encephalopathy (ANE) is a rare, but potentially life threatening neurological condition in children. This study aimed to investigate its clinical spectrum, diagnostic and therapeutic dilemma, and prognosis.
METHODS
Twelve children with ANE were included in the study. The diagnosis was made by clinical and radiological characteristics from January 1999 to December 2017 and their clinical data were retrospectively analyzed.
RESULTS
A total of 12 children aged 6 to 93 months at onset (5 male: 7 female) were evaluated. The etiology was found in 4 of them (influenza A, H1N1; coxsackie A 16; herpes simplex virus; and RANBP2 gene/mycoplasma). The most common initial presentations were seizures (67%) and altered mental status (58%). The majority of the subjects showed elevation of aspartate aminotransferase/alanine aminotransferase with normal ammonia and increased cerebrospinal fluid protein without pleocytosis. Magnetic resonance imaging revealed increased T2 signal density in bilateral thalami in all patients, but the majority of the subjects (67%) also had lesions in other areas including tegmentum and white matter. Despite the aggressive immunomodulatory treatments, the long-term outcome was variable. One child and two sisters with genetic predisposition passed away.
CONCLUSION
ANE is a distinctive type of acute encephalopathy with diverse clinical spectrum. Even though the diagnostic criteria are available, they might not be watertight. In addition, treatment options are still limited. Further studies for better outcome are needed.

Keyword

Encephalopathy; Children; RAN Binding Protein 2

MeSH Terms

Ammonia
Aspartic Acid
Brain Diseases*
Cerebrospinal Fluid
Child*
Diagnosis
Genetic Predisposition to Disease
Humans
Leukocytosis
Magnetic Resonance Imaging
Male
Prognosis
Retrospective Studies
Seizures
Siblings
Simplexvirus
White Matter
Ammonia
Aspartic Acid