All three reported individuals demonstrated neurological symptoms consistent with Leigh syndrome; they were all male although there is nothing to suggest this was more than chance. MRI brain revealed all three children had evidence of corpus callosal dysmorphism and abnormal/absent splenium. Symmetrical lesions were reported in the basal ganglia, thalami and brain stem. Optic nerve involvement was reported for 2 of the 3 children. One child remains relatively well but two patients died in infancy. At last review, the surviving child continues to make steady albeit slow progress, he is able to roll from front to back, can vocalize five to 10 words, is fully orally fed, and has visual impairment. He continues to have regular fleeting seizures but does not require regular anti-epileptic medication. His electrocardiogram (ECG) and echocardiogram were both normal, and he has good sustained growth on the 25th centile for weight and height.
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