Maternally inherited Leigh syndrome detected by Multiplex ligation-dependent probe amplification

Leigh syndrome (LS) is a mitochondrial progressive encephalopathy characterized by bilateral symmetric necrotic lesions of the central nervous system. Maternally inherited Leigh Syndrome (MILS) represents ∼10-20% of LS. Mutations in MT-ATP6 are the most common, being m.8993T > C/G the classical mutations. Molecular diagnosis for mitochondrial diseases is always a challenge and Multiplex ligation-dependent probe amplification (MLPA) of mitochondrial DNA can be an initial test for molecular diagnosis, although it is not widely used. We present a MILS patient in which MLPA was able to detect the common m.8993 T > G mutation and serve as a first approach for the definite molecular diagnosis.