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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.
Insights
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.
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.
Objective:
We examined the clinical manifestations of acute encephalopathy (AE) and identify risk factors for AE in children with tuberous sclerosis complex (TSC).
Methods:
The clinical data of 11 children with clinically diagnosed TSC associated with AE and 109 children with clinically diagnosed TSC alone aged 4 years or older were collected from 13 hospitals.
Results:
Of the 11 children with AE, 5 had histories of febrile seizures (FS), and all had histories of febrile status epilepticus (FSE). AE developed within 24 h after fever onset in all children with seizures lasting 30 min or longer. All children developed coma after seizure cessation. Head magnetic resonance imaging (MRI) revealed widespread abnormalities in the cerebral cortex, subcortical white matter, corpus callosum, basal ganglia, and thalamus. One child died; seven had severe neurological sequelae; and the other three, mild sequelae. Logistic regression analysis revealed that a history of FSE was correlated with the development of AE.
Significance:
AE in children with TSC was characterized by sudden onset after fever, followed by coma, widespread brain edema evident on MRI, and poor outcomes. A history of FSE was a risk factor for the development of AE.
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