Brain heterotopia.
Homayoun Modarresifar1, Linh Ho
1Division of Nuclear Medicine and PET Imaging, University of Southern California, Los Angeles, California, USA. sepahan@myway.com
Clinical Nuclear Medicine
|April 9, 2009
Summary
This case study highlights brain heterotopia as a cause of intractable partial complex seizures in a young girl. Imaging revealed heterotopic gray matter, which can show variable tracer uptake on PET-CT scans.
Area of Science:
- Neuroscience
- Neuroradiology
- Epileptology
Background:
- Intractable partial complex seizures can significantly impact quality of life.
- Brain heterotopia, a malformation of neuronal migration, is a potential underlying cause of epilepsy.
- Diagnostic imaging plays a crucial role in identifying structural brain abnormalities.
Observation:
- A 14-year-old female presented with persistent partial complex seizures unresponsive to treatment.
- Electroencephalogram (EEG) results were normal, complicating diagnosis.
- Magnetic Resonance Imaging (MRI) revealed gray matter heterotopia along the ventricular margin of the right occipital horn.
Findings:
- Positron Emission Tomography-Computed Tomography (PET-CT) showed moderate fluorodeoxyglucose (FDG) uptake in the identified heterotopic gray matter.
- The FDG uptake in heterotopic gray matter can be variable, appearing normal or increased.
- This variability can be misleading when interpreting PET-CT scans for epilepsy localization.
Implications:
- Brain heterotopia should be considered in the differential diagnosis of intractable partial complex seizures, even with normal EEG.
- Accurate interpretation of neuroimaging, including PET-CT, is essential for identifying subtle abnormalities like heterotopia.
- Understanding the variable metabolic activity of heterotopic gray matter is crucial for effective epilepsy management and surgical planning.
Related Concept Videos
01:03¹H NMR Chemical Shift Equivalence: Homotopic and Heterotopic Protons
Protons in identical electronic environments within a molecule are chemically equivalent and have the same chemical shift. The replacement test is a useful tool to identify chemical equivalence and predict NMR spectra. A substituent replaces each of the protons being examined and the resulting molecules are compared. If the same molecule is obtained, the protons are equivalent or homotopic. Replacement of any hydrogens in ethane by chlorine yields chloroethane because all six protons are...
01:43Sex-linked Disorders
Like autosomes, sex chromosomes contain a variety of genes necessary for normal body function. When a mutation in one of these genes results in biological deficits, the disorder is considered sex-linked.
01:29Cardiomyopathy III: Hypertrophic Cardiomyopathy
Hypertrophic cardiomyopathy, or HCM, is an autosomal dominant genetic disorder characterized by asymmetric left ventricular hypertrophy without ventricular dilation. It is more common in men and is typically diagnosed in young, athletic adults.EtiologyHCM is primarily genetic and is caused by mutations in genes encoding sarcomeric proteins. Researchers have identified over 1400 mutations across at least 11 different genes. Among these, the most frequently occurring mutations are found in the...
01:11Genetic Lingo
Overview
02:32Position-effect Variegation
In 1928, a German botanist Emil Heitz observed the moss nuclei with a DNA binding dye. He observed that while some chromatin regions decondense and spread out in the interphase nucleus, others do not. He termed them euchromatin and heterochromatin, respectively. He proposed that the heterochromatin regions reflect a functionally inactive state of the genome. It was later confirmed that heterochromatin is transcriptionally repressed, and euchromatin is transcriptionally active chromatin.