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Acute encephalopathy in children with tuberous sclerosis complex.

Shingo Numoto1, Hirokazu Kurahashi2, Atsushi Sato3

  • 1Department of Pediatrics, Aichi Medical University, 1-1 Yazako Karimata, Nagakute, Aichi, 480-1195, Japan. numoto.shingo.068@mail.aichi-med-u.ac.jp.

Orphanet Journal of Rare Diseases
|January 7, 2021
PubMed
Summary

Acute encephalopathy (AE) in children with tuberous sclerosis complex (TSC) presents suddenly after fever, leading to coma and poor outcomes. A history of febrile status epilepticus (FSE) is a significant risk factor for developing AE.

Keywords:
Clinical neurology historyInfantile spasmsMRIPrognosisStatus epilepticus

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Area of Science:

  • Neurology
  • Pediatrics
  • Genetics

Background:

  • Tuberous sclerosis complex (TSC) is a genetic disorder with diverse neurological manifestations.
  • Acute encephalopathy (AE) is a serious complication that can occur in children with TSC.
  • Identifying risk factors for AE in TSC patients is crucial for timely intervention.

Purpose of the Study:

  • To investigate the clinical features of acute encephalopathy (AE) in children diagnosed with tuberous sclerosis complex (TSC).
  • To identify specific risk factors associated with the development of AE in pediatric TSC patients.

Main Methods:

  • A retrospective study collected clinical data from 11 children with TSC and AE, and 109 children with TSC alone, aged 4 years and older.
  • Data were gathered from 13 hospitals, including seizure history, fever onset, seizure duration, and neurological status.
  • Head MRI findings were analyzed, and logistic regression was used to identify risk factors.

Main Results:

  • All 11 children with AE experienced coma after seizures lasting at least 30 minutes, which developed within 24 hours of fever onset.
  • Head MRI revealed widespread brain abnormalities in all AE cases.
  • A history of febrile status epilepticus (FSE) was significantly correlated with the development of AE (p<0.05).

Conclusions:

  • AE in children with TSC is characterized by rapid onset after fever, coma, extensive brain edema on MRI, and often severe neurological sequelae.
  • A history of FSE is a critical risk factor for AE in children with TSC.
  • Early recognition and management of FSE in TSC patients may help prevent AE.