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Leigh syndrome with progressive ventriculomegaly
1Department of Pediatrics, Taichung Veterans General Hospital, Taiwan, Republic of China.
Pediatric Neurology
|May 1, 1994
Summary
Leigh syndrome, a neurological disorder, can be suspected early in infants using cranial ultrasounds to detect brain changes like ventricular enlargement, even before MRI confirms typical lesions.
Area of Science:
- Neuroscience
- Pediatric Neurology
- Medical Imaging
Background:
- Leigh syndrome is a severe neurological disorder typically diagnosed in infancy.
- Characteristic cranial lesions and elevated lactate levels are key diagnostic indicators.
- Early detection is crucial for managing this progressive condition.
Observation:
- A 6-month-old infant presented with symptoms including hyperventilation, myoclonus, ophthalmoplegia, hypotonia, and elevated lactate.
- Magnetic resonance imaging (MRI) revealed characteristic cranial lesions.
- Cranial ultrasounds showed progressive ventricular enlargement prior to MRI detection of lesions.
Findings:
- Myelin destruction is a significant factor in early Leigh syndrome.
- Cranial ultrasonography identified progressive ventricular enlargement as an early sign.
- Ultrasonography may precede MRI in detecting indicative brain changes.
Implications:
- Cranial ultrasonography offers a potentially convenient method for early suspicion of Leigh syndrome.
- Early detection via ultrasonography could facilitate timely intervention and management.
- This highlights the role of neuroimaging in diagnosing rare pediatric neurological diseases.