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Encephalopathy, acute, infection-induced, susceptibility to, 4(IIAE4)

MedGen UID:
481790
Concept ID:
C3280160
Finding
Synonyms: ENCEPHALOPATHY, ACUTE, INFECTION-INDUCED, SUSCEPTIBILITY TO, 4; IIAE4
 
Gene (location): CPT2 (1p32.3)
 
Monarch Initiative: MONDO:0013633
OMIM®: 614212

Definition

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 edema, and high morbidity and mortality. The infections are usually viral, particularly influenza, although other viruses and even mycoplasma have been found to cause the disorder (summary by Chen et al., 2005; Shinohara et al., 2011). For a discussion of genetic heterogeneity of susceptibility to acute infection-induced encephalopathy, see 610551. [from OMIM]

Clinical features

From HPO
Cerebral edema
MedGen UID:
2337
Concept ID:
C0006114
Pathologic Function
Abnormal accumulation of fluid in the brain.
Coma
MedGen UID:
1054
Concept ID:
C0009421
Disease or Syndrome
The complete absence of wakefulness and consciousness, which is evident through a lack of response to any form of external stimuli.
Seizure
MedGen UID:
20693
Concept ID:
C0036572
Sign or Symptom
A seizure is an intermittent abnormality of nervous system physiology characterized by a transient occurrence of signs and/or symptoms due to abnormal excessive or synchronous neuronal activity in the brain.
Encephalopathy
MedGen UID:
39314
Concept ID:
C0085584
Disease or Syndrome
Encephalopathy is a term that means brain disease, damage, or malfunction. In general, encephalopathy is manifested by an altered mental state.
Fever
MedGen UID:
5169
Concept ID:
C0015967
Sign or Symptom
Body temperature elevated above the normal range.

Recent clinical studies

Diagnosis

Straka B, Koblížek M, Splítková B, Valkovičová R, Krsková L, Kalinová M, Vlčková M, Zámečník J, Laššuthová P, Sedláčková L, Staněk D, Maulisová A, Tichý M, Kynčl M, Kršek P
Epilepsia Open 2024 Feb;9(1):424-431. Epub 2023 Dec 14 doi: 10.1002/epi4.12863. PMID: 37943122Free PMC Article

Prognosis

Straka B, Koblížek M, Splítková B, Valkovičová R, Krsková L, Kalinová M, Vlčková M, Zámečník J, Laššuthová P, Sedláčková L, Staněk D, Maulisová A, Tichý M, Kynčl M, Kršek P
Epilepsia Open 2024 Feb;9(1):424-431. Epub 2023 Dec 14 doi: 10.1002/epi4.12863. PMID: 37943122Free PMC Article

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