Acute Encephalopathy in Children with Tuberous Sclerosis Complex

Overview

Journal Orphanet J Rare Dis

Publisher Biomed Central

Specialty General Medicine

Date 2021 Jan 7

PMID 33407677

Citations 2

Authors

Shingo Numoto

Hirokazu Kurahashi

Atsushi Sato

Masaya Kubota

Takashi Shiihara

Tohru Okanishi

Ryuta Tanaka

Ichiro Kuki

Tetsuhiro Fukuyama

Mitsuru Kashiwagi

Mitsuru Ikeno

Kazuo Kubota

Manami Akasaka

Masakazu Mimaki

Akihisa Okumura

Affiliations

Soon will be listed here.

Abstract

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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