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Neurology: Early MRI features of children with tuberous sclerosis (TSC) are significantly correlated with secondary epilepsy and neurodevelopmental outcomes before age 2!

 Last Update: 2022-04-22
 Source: Internet
 Author: User

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Tuberous sclerosis complex (TSC) is an inherited multisystem disease with an estimated neonatal incidence of 1:6000
.

TSC is caused by mutations in TSC1 or TSC2, which encode hamartin and tuberin, respectively

Tuberous sclerosis complex (TSC) is an inherited multisystem disease with an estimated neonatal incidence of 1:6000

On magnetic resonance imaging (MRI) of the unmyelinated brain, nodular or cortical dysplasias appear as hyperintense lesions on T1-weighted sequences and hypointense on T2W sequences, whereas when the brain is myelinated, they appear as hyperintense lesions on T1-weighted sequences.

Multiple factors have been associated with an increased risk of epilepsy and neurodevelopmental delay, including TSC gene mutations, MRI features, and the evolution of EEG abnormalities

The Prevention of EPISTOP Project This substudy, published in Neurology, aims to identify early MRI biomarkers of adverse epilepsy and developmental outcomes

The researchers performed brain MRI in infants with TSC less than 6 months old
.

A coordinated cross-center MRI protocol was used, and children were closely monitored with neuropsychological assessment and serial video - EEG .

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Seventy-seven children with TSC underwent MRI, and MRI was sufficient for volumetric analysis in 62
.
The presence of nodules and a higher nodule/brain ratio were associated with the development of clinical epilepsy independent of TSC gene mutation and preventive treatment
.
Higher nodule/brain ratios two years later were associated with lower cognitive and motor developmental IQ independently of the presence of TSC gene mutations and epilepsy
.

Seventy-seven children with TSC underwent MRI, and MRI was sufficient for volumetric analysis in 62
.

The presence of nodules and a higher nodule/brain ratio were associated with the development of clinical epilepsy independent of TSC gene mutation and preventive treatment
.

Higher nodule/brain ratios two years later were associated with lower cognitive and motor developmental IQ independently of the presence of TSC gene mutations and epilepsy

In infants with TSC, there is a significant correlation between characteristic TSC lesions detected by early brain MRI and the development of clinical epilepsy and neurodevelopmental outcomes in the first two years of life

Source: Hulshof HM, Kuijf HJ, Kotulska K, et al.

Association of Early MRI Characteristics With Subsequent Epilepsy and Neurodevelopmental Outcomes in Children With Tuberous Sclerosis Complex [published online ahead of print, 2022 Jan 31].
Neurology.
2022;10.

Hulshof HM, Kuijf HJ, Kotulska K, et al.

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