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Updated: Mar 19, 2026
Diffusion Tensor Magnetic Resonance Imaging in the Analysis of Neurodegenerative Diseases
Published on: July 28, 2013
INFANTILE ALEXANDER'S DISEASE: A CASE WITH CHARACTERISTIC MRI FEATURES
Abstract:
Alexander disease, less commoniy known as fibrinoid leukodystrophy is an extremely rare, non- familial, progressive, lethal leukodystrophy which is characterized predominantly by abnormalities of white matter in bilateral frontal regions. It usually presents early within first 2 years of life with clinical features of macrocephaly, recurrent seizures and psychomotor retardation. Diagnosis of this white matter disorder is possible with certain features seen on magnetic resonance imaging (MRI), even without the need for histological confirmation. Our case is a one year old male infant who presented with repeated episodes of focal seizures to the paediatrician. He was referred for an MRI and subsequently based on typical MRI findings the diagnosis of Alexander disease was made.
Insights
Alexander disease, a rare progressive leukodystrophy, presents in infancy with seizures and developmental delay. Diagnosis is confirmed via characteristic MRI findings, avoiding invasive procedures.
Area of Science:
- Neurology
- Pediatrics
- Radiology
Background:
- Alexander disease, also known as fibrinoid leukodystrophy, is an extremely rare, non-familial, progressive, and lethal leukodystrophy.
- It primarily affects the white matter, particularly in the bilateral frontal regions of the brain.
Observation:
- The condition typically manifests within the first two years of life.
- Clinical symptoms include macrocephaly (an abnormally large head), recurrent seizures, and psychomotor retardation.
Findings:
- Diagnosis can often be established through specific magnetic resonance imaging (MRI) findings.
- Histological confirmation may not always be necessary for diagnosis.
Implications:
- This case highlights the utility of MRI in diagnosing Alexander disease in infants presenting with seizures.
- Early diagnosis through neuroimaging can facilitate timely management and support for affected children and families.
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