Related Experiment Video

Updated: Jul 17, 2026

Dynamic Clamp Methods to Investigate Impaired Neuronal Excitability Associated with Autism
08:44

Dynamic Clamp Methods to Investigate Impaired Neuronal Excitability Associated with Autism

Published on: October 17, 2025

Infantile spasm-associated microencephaly in tuberous sclerosis complex and cortical dysplasia

P S Chandra1, N Salamon, S T Nguyen

  • 1Division of Neurosurgery, David Geffen School of Medicine, University of California, Los Angeles, CA, USA.

Neurology
|February 7, 2007
PubMed

Insights

Tuberous sclerosis and cortical dysplasia show different brain changes in children with epilepsy. Infantile spasms are linked to smaller brain volumes in both conditions, suggesting spasms may cause microcephaly.

Area of Science:

  • Neuroscience
  • Developmental Biology
  • Pathology

Background:

  • Tuberous sclerosis complex (TSC) and cortical dysplasia with balloon cells (CD) are common causes of refractory epilepsy in children.
  • Both conditions can present with similar clinical features, including intractable seizures and developmental delays.
  • Understanding the underlying neuropathology is crucial for developing targeted therapies.

Purpose of the Study:

  • To compare brain volumes and neuronal cell densities in pediatric epilepsy surgery patients with TSC and CD.
  • To investigate the impact of infantile spasms on brain development in these conditions.
  • To elucidate the distinct pathogenetic mechanisms of TSC and CD.

Main Methods:

  • Quantitative MRI was used to measure gray and white matter volumes in TSC (n=18), CD (n=17), and control (n=20) patients.
  • Neuronal nuclei (NeuN) cell densities were assessed in cortical and white matter regions.
  • Patients were stratified based on the presence or absence of infantile spasms.

Main Results:

  • TSC patients without infantile spasms exhibited reduced gray and white matter volumes (-16%).
  • Both TSC (-35%) and CD (-25%) patients with a history of infantile spasms showed significant microcephaly.
  • TSC patients had decreased lower gray matter NeuN densities (-36%), while CD patients showed increased upper cortical (+52%) and white matter (+65%) densities.

Conclusions:

  • TSC is associated with microcephaly and reduced cortical neuronal density, whereas CD without spasms shows normocephaly with increased cell densities, indicating different pathogenetic origins.
  • A history of infantile spasms correlates with reduced cerebral volumes in both TSC and CD, suggesting spasms or their treatment may independently contribute to microcephaly.
  • These findings highlight distinct neuropathological mechanisms in TSC and CD, despite overlapping clinical presentations in pediatric epilepsy.
Abstract

More Related Videos

Frontal Disconnection for Treating Mild Malformation of Cortical Development with Oligodendroglial Hyperplasia in Epilepsy (MOGHE) in the Frontal Lobe06:04

Frontal Disconnection for Treating Mild Malformation of Cortical Development with Oligodendroglial Hyperplasia in Epilepsy (MOGHE) in the Frontal Lobe

Published on: August 16, 2024

Related Concept Videos

Tetanus01:29

Tetanus

Tetanus is a life-threatening neurological disorder characterized by persistent muscle contractions and spastic paralysis. It is caused by Clostridium tetani, a motile, Gram-positive, rod-shaped, obligate anaerobe. These bacteria produce terminal endospores, giving them a distinctive “lollipop” or “tennis-racket” appearance. They thrive in anaerobic environments, such as those found in deep puncture wounds.Once introduced into the body, the spores germinate into vegetative cells. These cells...
Encephalitis l: Introduction01:19

Encephalitis l: Introduction

Encephalitis is inflammation of the brain parenchyma, most often due to infections or autoimmune processes. It presents with neuropsychiatric features such as fever, altered mental status, behavioral changes, cognitive dysfunction, seizures, focal deficits, and sometimes autonomic instability. In some cases, the meninges are also involved, resulting in meningoencephalitis.Infectious CausesInfectious encephalitis is most commonly viral but can also result from bacterial, fungal, or parasitic...
Microtubules in Signaling01:22

Microtubules in Signaling

The primary cilium, made up of microtubules, acts as antennae on the cell surfaces for relaying external stimuli into the cells. These fine hair-like structures are present, generally one per cell. These are non-motile cilia in a 9+0 microtubules arrangement, where the central pair of microtubules are absent. The primary cilia arise from the basal body embedded in the cell membrane. Intraflagellar transport (IFT) carries requisite proteins from the cytoplasm to the cilium because the primary...
Alterations in Muscle Tone ll01:12

Alterations in Muscle Tone ll

Alterations in muscle tone are common manifestations of neurological disorders and reflect dysfunction within different nervous system regions. Spasticity, paratonia, and dystonia represent distinct forms of hypertonia, each with unique mechanisms, clinical features, and diagnostic importance.CharacteristicsSpasticity happens from upper motor neuron lesions and is characterized by velocity-dependent resistance to passive movement. Clinical features include:Exaggerated deep tendon reflexesClonus...
Encephalitis ll: Pathophysiology01:26

Encephalitis ll: Pathophysiology

Encephalitis is inflammation of the brain parenchyma caused by direct viral invasion or immune-mediated mechanisms triggered by infections or tumors. Both processes lead to neuronal injury, disrupted neurotransmission, and diverse neurological symptoms, often with overlapping clinical and pathological features.Autoimmune EncephalitisIn autoimmune encephalitis, antibodies target neuronal antigens on cell surfaces, synapses, or within neurons. A key example is anti-NMDAR encephalitis, which can...
Assembly of Complex Microtubule Structures01:32

Assembly of Complex Microtubule Structures

Complex microtubule structures are present in resting cells and in dividing cells. In resting cells, they are responsible for maintaining the cellular architecture, tracks for intracellular transport, positioning of organelles, assembly of cilia and flagella. They mediate the bipolar spindle assembly for chromosomal segregation and positioning of the cell division plate in dividing cells. The formation of microtubule complex structures depends on the cell type, cell stage, and cell function.