Abstract
Background: Parents of children with infantile spasms undergoing epilepsy surgery typically inquire about the risk of other children for a similar affliction. Here, we determined whether non-syndromic patients with infantile spasms and malformation of cortical development (MCD) have a family history of seizures, particularly in siblings.Patients and methods: We selected 29 children with intractable infantile/epileptic spasms who underwent surgery (mean age at surgery: 4.4±3.8 years; 12 males, 17 females; age range 0.8-14.9 years). A pathological diagnosis of MCD was confirmed in all the patients. Family (including parents, and siblings) history of seizures was acquired in all patients through neurology chart review/telephonic interview.Results: Pathological diagnosis of migration disorder (16) and cortical dysplasia (9) was made in these patients. Diagnosis of hemimegalencephaly, dysembryoplastic neuroepithelial tumor (DNET), lissencephaly type1 and porencephaly was also confirmed in 4 different patients. None of the siblings in any family (total number of siblings in the group = 30) were affected by infantile spasms or other types of seizures. The maternal aunt of one patient and mother of another patient had a history of childhood seizures for short durations.Conclusions: Our retrospective study showed that patients with infantile spasms with MCD who underwent resective surgery have low sibling recurrence risk for seizures. Our study suggests that de novo mutations and non-genetic or epigenetic factors are major causes of infantile spasms due to MCD.
Highlights
Parents of children with infantile spasms undergoing epilepsy surgery typically inquire about the risk of other children for a similar affliction
Our retrospective study showed that the siblings of patients with infantile spasms with malformation of cortical development (MCD) who underwent resective surgery have low risk for seizures
Our study suggests that de novo mutations and non-genetic or epigenetic factors are major causes of infantile spasms due to MCD
Summary
Parents of children with infantile spasms undergoing epilepsy surgery typically inquire about the risk of other children for a similar affliction. Infantile spasms is a form of epilepsy characterized by clusters of brief jerks involving the neck, trunk, or extremities resulting in flexion, extension, or a combination of the two. These seizures typically arise in the first 2 years of life and are often associated with a ‘hypsarrhythmic’ pattern on the electroencephalogram (EEG) [1]. Both genetic and environmental causes have been implicated in infantile spasms [2]. Malformation of cortical development (MCD), including cortical dysplasia, is a known cause of severe intractable epilepsy (including infantile spasms) and has been associated with mutations in various genes such as L1S1, DCX, ARX, RELN, and TUBA1A [7]
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