Although SURF1-related LS is a well-established neuropathological and clinical entity, atypical manifestations have been occasionally reported, such as long-surviving cases with scarce brain lesions [3,7], or subjects manifesting predominant demyelinating Charcot-Marie-Tooth disease [8], villous atrophy, hypertrichosis without the typical brain lesions [9], or severe renal involvement [10]. This evidence concerns the gene SURF1 and Leigh syndrome.