Lithium for Leigh syndrome – damage, benefit, or both?

Area of Science:

• Neuroscience
• Genetics
• Pediatric Neurology

Background:

• Leigh syndrome is a severe maternally inherited neurodegenerative disorder.
• It typically presents in infancy or early childhood with progressive neurological decline.
• This case highlights a later presentation and atypical symptoms.

Purpose of the Study:

• To discuss a case of Leigh syndrome diagnosed in late adolescence.
• To describe the clinical manifestations including severe psychomotor impairment and behavioral disturbances.
• To emphasize the importance of considering Leigh syndrome in complex neurological cases.

Main Methods:

• Case report review.
• Clinical assessment of a 23-year-old female patient.
• Neuroimaging analysis (basal ganglia hypodensities, cerebellar atrophy).

Main Results:

• The patient was diagnosed with Leigh syndrome at age 4.
• Manifestations included severe psychomotor impairment and severe self-harm.
• Neuroimaging revealed bilateral basal ganglia hypodensities and cerebellar atrophy.

Conclusions:

• Leigh syndrome can present later in life with severe neuropsychiatric symptoms.
• Neuroimaging findings are critical for diagnosis.
• This case underscores the diagnostic challenges and diverse phenotypes of Leigh syndrome.