Case Report of Leigh Disease in an Infant
Author Information
Author(s): Ronchi Dario, Cosi Alessandra, Tonduti Davide, Orcesi Simona, Bordoni Andreina, Fortunato Francesco, Rizzuti Mafalda, Sciacco Monica, Collotta Martina, Cagdas Sophie, Capovilla Giuseppe, Moggio Maurizio, Berardinelli Angela, Veggiotti Pierangelo, Comi Giacomo P
Primary Institution: Centro Dino Ferrari, Department of Neurological Sciences, University of Milan
Hypothesis
The m.14459G > A mitochondrial DNA mutation may lead to Leigh Syndrome or related conditions.
Conclusion
The m.14459G > A mutation is associated with Leigh Syndrome, but its clinical variability remains unexplained.
Supporting Evidence
- The patient exhibited symptoms like psychomotor delay and seizures.
- MRI showed bilateral symmetric lesions in the brain.
- The mutation was confirmed through specific PCR-RFLP assays.
Takeaway
A baby with a rare genetic mutation was studied to understand a serious brain disease called Leigh Syndrome. The mutation can cause different symptoms in different people.
Methodology
Direct sequencing of muscle-derived mtDNA and clinical evaluations were performed.
Limitations
The study is based on a single case, limiting generalizability.
Participant Demographics
15-month-old female patient from nonconsanguineous Italian parents.
Digital Object Identifier (DOI)
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