During the beginning of spring 2009, Xu Ying found that her son was unwell and began to walk unsteadily, afraid to walk and run fast, and often fell down. Xu Ying then took her son to the hospital for examination and was diagnosed with “brain dysplasia” and “encephalitis”. In order to diagnose and treat their son, Mr. and Mrs. Xu Ying searched for doctors everywhere, and the couple took their son to all the major hospitals in Beijing and Shanghai, seeking medical help. Hospitals in different places gave different diagnoses, and the child also tried some drugs for treatment during the period. However, the child’s condition was not under control, instead, there were twitching of the limbs, accompanied by loss of consciousness, and the number of seizures was increasing, the couple was so anxious that they could not go, and once again embarked on the journey of seeking medical treatment for their son. The couple had no choice but to sell their family’s assets to raise the money in the face of huge medical bills. Looking at the child’s suffering, the couple could not do anything, watching the child added walking instability symptoms than before significantly aggravated, do not dare to walk on their own, and the family found that the left lower limb shortened and accompanied by muscle atrophy, appearing unresponsive, slow speech, poor intelligence, the couple’s heart like a knife, but also anxious. With a ray of hope, the parents came to Zheng University Fifth Affiliated Hospital and found Professor Liu Hengfang. After further blood tests and muscle biopsy, and consultation with several experts in neuroimaging and neurology in Henan Province, he finally suspected this rare disease – myoclonic epilepsy with muscle fragmentation red fiber syndrome. In the spirit of responsibility for the patient, experts from the Department of Neurology of the Fifth Affiliated Hospital of Zhengzhou University sent the child’s imaging films and results to the Department of Neurology and the Department of Medical Imaging of Xiangya Medical College for consultation, and finally confirmed that the child had an extremely rare disease – myoclonic epilepsy with muscle fragmentation red fiber syndrome. After symptomatic treatment, the child’s symptoms improved significantly.