A 22 year old man presented with difficulty in walking since six years of age. There is a history of global developmental delay and progressive stiffness in both lower limbs. Two maternal cousins have similar complaints.
Non-contrast CT scan of the brain shows small, symmetrical hypodense lesions in the midbrain involving the substantia nigra, without hemorrhage, calcification, or mass effect. The MRI of the brain shows symmetrical T2 hyperintense focal lesions in the substantia nigra. There is central signal drop on FLAIR with a hyperintense rim. The lesions do not show diffusion restriction or blooming.