Identification and treatment of surgically-remediable causes of infantile epileptic spasms syndrome

ABSTRACT

Introduction

Infantile epileptic spasms syndrome (IESS) is a common developmental and epileptic encephalopathy with poor long-term outcomes. A substantial proportion of patients with IESS have a potentially surgically remediable etiology. Despite this, epilepsy surgery is underutilized in this patient group. Some surgically remediable etiologies, such as focal cortical dysplasia and malformation of cortical development with oligodendroglial hyperplasia in epilepsy (MOGHE), are under-diagnosed in infants and young children. Even when a surgically remediable etiology is recognised, for example, tuberous sclerosis or focal encephalomalacia, epilepsy surgery may be delayed or not considered due to diffuse EEG changes, unclear surgical boundaries, or concerns about operating in this age group.

Areas covered

In this review, the authors discuss the common surgically remediable etiologies of IESS, their clinical and EEG features, and the imaging techniques that can aid in their diagnosis. They then describe the surgical approaches used in this patient group, and the beneficial impact that early epilepsy surgery can have on developing brain networks.

Expert opinion

Epilepsy surgery remains underutilized even when a potentially surgically remediable cause is recognized. Overcoming the barriers that result in under-recognition of surgical candidates and underutilization of epilepsy surgery in IESS will improve long-term seizure and developmental outcomes.

KEYWORDS:

• Infantile epileptic spasms syndrome
• malformation of cortical development
• focal cortical dysplasia
• MOGHE
• tuberous sclerosis complex
• perinatal stroke
• epilepsy surgery

Article highlights

• Infantile epileptic spasms syndrome (IESS) is the most common developmental and epileptic encephalopathy (DEE); uncontrolled IESS has progressive impacts on developmental and cognitive outcomes.

• Focal structural brain pathologies such as tuberous sclerosis, focal cortical dysplasia and perinatal stroke are common causes of IESS, and may be surgically remediable are common causes of IESS.

• Surgically remediable causes of IESS are underdiagnosed as they are difficult to identify on brain imaging during infancy.

• Epilepsy surgery remains underutilized even when a potentially surgically remediable cause is recognized.

• Prompt epilepsy surgery in appropriate candidates can improve long-term seizure and developmental outcomes.

Declaration of Interest

E Macdonald-Laurs is supported by the Clifford Family PhD scholarship and the Research Training Program scholarship. KB Howell was supported by the Melbourne Children’s Clinician Scientist Fellowship scheme, and grants from the National Health and Medical Research Council and the Medical Research Futures Fund. She has received project funding (for unrelated work) from Praxis Precision Medicines, RogCon, Inc, and UCB Australia. The Murdoch Children’s Research Institute is supported by the Victorian State Government Operational Infrastructure Program. The authors have no other relevant affiliations or financial involvement with any organization or entity with a financial interest in or financial conflict with the subject matter or materials discussed in the manuscript apart from those disclosed.

Reviewer disclosures

Peer reviewers on this manuscript have no relevant financial or other relationships to disclose.

Additional information

Funding

This paper was not funded.