Figures’ titles
Figure 1: The genetic background of the patient’s family tree. The case of 4-1 is the first child of the family to be the result of kinship marriage. Her grandmother (case 2-1) died of a brain tumor. In the case of 4-4, the hand is paralyzed, which is found to be non-congenital and due to lack of oxygen.
Figure 2: The first brain MRI. (A): Axial brain MRI (flair) showing hyper intensity in dorsal midbrain; (B): Axial brain MRI (T2) showing hyper intensity in dorsal midbrain; (C): Axial brain MRI (DWI) showing hyper intensity in dorsal midbrain; (D): Axial brain MRI (ADC map) showing restriction in dorsal midbrain involvement
Figure 3: The second brain MRI. (A): Axial brain MRI (flair) showing hyper intensity in dorsal midbrain; (B): Axial brain MRI (T2) showing bilateral hyper intensity in putamen nucleus; (C): Axial brain MRI (flair) showing hyper intensity in dorsal midbrain and dentate nucleus of cerebellum; (D): Axial brain MRI (T1) showing hypo intensity in dorsal midbrain
Figure 4: Magnetic resonance spectroscopy result. The result demonstrated an elevated lactate peak in involved areas