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Leigh syndrome with progressive ventriculomegaly
1Department of Pediatrics, Taichung Veterans General Hospital, Taiwan, Republic of China.
Insights
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.
Abstract:
A 6-month-old female infant was diagnosed with Leigh syndrome after an abnormal muscle specimen was obtained and after magnetic resonance imaging demonstrated characteristic cranial lesions. She presented with episodic hyperventilation, myoclonus, ophthalmoplegia, hypotonia, and elevation of lactate in the cerebrospinal fluid and blood. A series of cranial ultrasounds revealed progressive ventricular enlargement before the typical lesions were detected by magnetic resonance imaging. Myelin destruction is believed to play an important role in the early stage of Leigh syndrome. Ultrasonography may provide a convenient way to document changes in brain that provide early suspicion of Leigh syndrome.