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Encephalitis/encephalopathy, mild, with reversible myelin vacuolization(MERS; MMERV)

MedGen UID:
1648328
Concept ID:
C4722446
Disease or Syndrome
Synonym: ENCEPHALITIS/ENCEPHALOPATHY, MILD, WITH REVERSIBLE SPLENIAL LESION
 
Gene (location): MYRF (11q12.2)
 
Monarch Initiative: MONDO:0020853
OMIM®: 618113

Definition

MMERV is an episodic acute reversible encephalopathy that occurs in children and is frequently associated with a trigger, such as a febrile illness. Affected individuals have impaired consciousness, delirious behavior, and/or seizures with lip smacking or eye deviation. These changes are associated with white matter lesions in the brain that often occur in the splenium of the corpus callosum, but may occur in surrounding areas. The acute phase of the disorder can be treated with steroids, and most patients make a full neurologic recovery between episodes with no sequelae (summary by Kurahashi et al., 2018). [from OMIM]

Clinical features

From HPO
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.
Acute encephalopathy
MedGen UID:
224930
Concept ID:
C1306587
Disease or Syndrome
A life-threatening disorder characterized by delirium, seizures, and neuromuscular changes.

Recent clinical studies

Etiology

Kurahashi H, Azuma Y, Masuda A, Okuno T, Nakahara E, Imamura T, Saitoh M, Mizuguchi M, Shimizu T, Ohno K, Okumura A
Ann Neurol 2018 Jan;83(1):98-106. Epub 2018 Jan 14 doi: 10.1002/ana.25125. PMID: 29265453

Diagnosis

Kurahashi H, Azuma Y, Masuda A, Okuno T, Nakahara E, Imamura T, Saitoh M, Mizuguchi M, Shimizu T, Ohno K, Okumura A
Ann Neurol 2018 Jan;83(1):98-106. Epub 2018 Jan 14 doi: 10.1002/ana.25125. PMID: 29265453

Prognosis

Kurahashi H, Azuma Y, Masuda A, Okuno T, Nakahara E, Imamura T, Saitoh M, Mizuguchi M, Shimizu T, Ohno K, Okumura A
Ann Neurol 2018 Jan;83(1):98-106. Epub 2018 Jan 14 doi: 10.1002/ana.25125. PMID: 29265453

Clinical prediction guides

Kurahashi H, Azuma Y, Masuda A, Okuno T, Nakahara E, Imamura T, Saitoh M, Mizuguchi M, Shimizu T, Ohno K, Okumura A
Ann Neurol 2018 Jan;83(1):98-106. Epub 2018 Jan 14 doi: 10.1002/ana.25125. PMID: 29265453

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