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Fulminant encephalopathy with marked brain edema and bilateral thalamic lesions

Naoki Ando1, Akihisa Okumura2, Satoru Kobayashi1

  • 1Department of Pediatrics, Nagoya City University Graduate School of Medicine, Nagoya, Japan.

Neuropediatrics
|December 17, 2013
PubMed

Insights

Two children experienced acute encephalopathy with severe symptoms like status epilepticus and brain swelling. Their unique presentation and poor outcomes suggest a novel neurological disorder, highlighting the need for further research.

Area of Science:

  • Neurology
  • Pediatrics
  • Biochemistry

Background:

  • Acute encephalopathy is a severe neurological condition in children.
  • Established subtypes of acute encephalopathy/encephalitis have distinct clinical and imaging features.

Observation:

  • Two pediatric patients presented with acute encephalopathy.
  • Both cases exhibited status epilepticus at onset.
  • Neuroimaging revealed significant brain edema and bilateral thalamic lesions.

Findings:

  • Treatment with steroids and immunoglobulin yielded poor outcomes.
  • One patient had a thermolabile variant of carnitine palmitoyltransferase II.
  • Elevated interleukin-6 levels in cerebrospinal fluid were noted in one patient.

Implications:

  • The unique clinical and neuroimaging findings challenge existing classifications of acute encephalopathy.
  • These cases may represent a previously unrecognized neurological disorder.
  • Further investigation is warranted to elucidate the underlying mechanisms and identify potential therapeutic targets.

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