Acute necrotizing encephalopathy of childhood

General Information (adopted from Orphanet):

Synonyms, Signs: IIAE4
ANEC
Isolated acute necrotizing encephalopathy
Isolated ANE
Number of Symptoms 11
OrphanetNr: 263524
OMIM Id: 614212
ICD-10: G31.8
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Not applicable
[Orphanet]
Age of onset: Childhood
[Orphanet]

Disease classification (adopted from Orphanet):

Parent Diseases: Infectious encephalitis
 -Rare infectious disease
 -Rare neurologic disease

Symptom Information: Sort by abundance 

1
 (HPO:0001259) Coma 65 / 7739
2
 (HPO:0001298) Encephalopathy 72 / 7739
3
 (HPO:0001250) Seizures 1245 / 7739
4
 (HPO:0002181) Cerebral edema 19 / 7739
5
 (OMIM) Febrile illness 2 / 7739
6
 (OMIM) Encephalopathy, acute, sudden-onset during febrile illness 1 / 7739
7
 (OMIM) Increased serum acylcarnitine during febrile crisis 1 / 7739
8
 (OMIM) Precipitated by infection (influenza A, influenza B, mycoplasma, HHV6) 1 / 7739
9
 (OMIM) Serum acylcarnitine returns to borderline high or normal after resolution of fever 1 / 7739
10
 (HPO:0000006) Autosomal dominant inheritance 2518 / 7739
11
 (HPO:0000007) Autosomal recessive inheritance 2538 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) Acute encephalopathy is a severe neurologic complication of an infection that usually occurs in children. It is characterized by a high-grade fever accompanied within 12 to 48 hours by febrile convulsions, often leading to coma, multiple-organ failure, brain ...
Clinical Description OMIM Chen et al. (2005) found that 41.2% of 34 Japanese children with influenza-associated acute encephalopathy had increased serum acylcarnitine ratios, suggesting a defect of mitochondrial long-chain fatty acid metabolism. Elevated acylcarnitine ratios at the time of high-grade fever ...
Molecular genetics OMIM Among 29 Japanese patients with infection-induced acute encephalopathy, Shinohara et al. (2011) found significantly higher frequency of the 352C variant in exon 4 of the CPT2 gene (600650.0018) compared to controls (27.6 vs 13.5%, odds ratio of 2.44, ...