Little Mingming is 5 years old, but he is not in kindergarten, and his mother is taking him everywhere to seek medical help. A doctor said Mingming has “epilepsy”, and the family has seriously given the child two years of anti-epileptic drugs, but the symptoms of “epilepsy” have not improved at all. Xiao Jianjun, Department of Pediatric Neurology, Second Affiliated Hospital of Zhejiang University School of Medicine Mingming was born with large and small light brown spots, the large ones look like “birthmarks” and the small ones look like “freckles”, and I heard that the spots were inherited from his grandmother and father, who also had many “bumps” on their bodies. They also had a lot of “bumps” on their bodies. What kind of disease did Ming Ming have? With anxiety, his mother took Mingming to the pediatric ward of the Second Hospital of Zhejiang Province. The doctors and nurses found that Mingming was a very smart boy who liked to laugh, dance and listen to songs, and would often turn on his mother’s cell phone to play some nice songs, and once he was even seen playing the popular “Little Apple” while dancing to a self-created dance. Everyone likes Mingming. But Mingming’s genuine smile could not dispel the sad cloud on his mother’s face. Since Mingming was born, she found a lot of strange spots all over her body, and she always felt a stone in her heart. She felt that Ming Ming was too jumpy and active, and even when he slept, he was not well behaved, always dancing around for a while, needing to be coaxed and patted before he fell asleep, and walking a little on his “tiptoes”. The parents, who are doing business in the provinces, took Mingming to the local children’s hospital, where the doctor said Mingming might be suffering from “epilepsy” and gave him anti-epileptic drugs. But after two years of taking the medicine, Ming Ming was still “on my own” about sleeping. After a lot of inquiries, the mother learned that the pediatric neurology specialty of Zhejiang Medical Second Hospital was good, so she went home to seek medical help. After careful questioning of the medical history, the doctor found that Mingming had had several EEGs, all of which were normal. The mother also carefully recalled that, except for the hand-waving before sleeping, Mingming had no convulsions or froze. During the hospitalization, a physical examination revealed dozens of “milk coffee spots” of different sizes and depths in Ming’s armpits and trunk, the largest of which was about 15*40 mm; an X-ray revealed that the two legs were asymmetrical, with a difference of 5 mm; an ophthalmology consultation revealed small orange-yellow round particles on the iris. However, the cranial MRI examination and 24-hour dynamic EEG examination were normal. Finally, the doctor diagnosed Ming as having neurofibromatosis type I, and further genetic tests were needed to clarify. Although some patients with neurofibromatosis may also have seizures, Ming’s symptoms and test results proved that the child was not “epileptic” and did not need to continue taking anti-seizure medication. With the diagnosis in sight, the mother relaxed and prepared herself to cooperate with the genetic tests and further follow-up visits. Perhaps it was the mother’s relaxed mood that infected Mingming, and he fell asleep more easily. The “epilepsy” label was finally lifted and Mingming was happy to be ready for kindergarten. The color of “milk coffee spots” is like coffee mixed with milk, which can be light brown, brownish or dark brown spots. It can be round, oval or irregular in shape, not protruding from the surface of the skin, and clearly defined from the surrounding skin. Milk coffee spot is a manifestation of neurocutaneous syndrome. Neurocutaneous syndrome is a group of congenital disorders that often manifest as abnormalities of the nerves, skin and eyes. There are three common types, namely neurofibromatosis, tuberous sclerosis, and cerebrofacial angiomatosis. Most neurofibromatosis in childhood is type I. Neurofibromatosis type I is a rare genetic disorder that is inherited in an autosomal dominant fashion and is mainly characterized by milk coffee spots on the skin and multiple neurofibromas of the peripheral nerves. Skin: Milk café au lait spots can be seen at birth in almost all cases and tend to appear in the trunk area. Dermatofibromas and fibromas are often not evident in infancy and can develop in childhood and increase after puberty. Fibromas are mainly found on the trunk, but may also appear on the face and extremities. They are mostly pink in color, variable in number, sesame, mung bean to citrus in size, and soft to the touch. Eyes: On ophthalmic slit-lamp examination, small round orange-yellow nodules on the iris can be found. These nodules are called misshapen nodules, also known as Lisch nodules, which can increase with age and are unique to neurofibromatosis type I. Bone: There may be congenital abnormal bone development, osteomalacia of the long bones, curvature of the backbone and pseudarthrosis formation, and there may also be scoliosis, protrusion and kyphosis of the spine. Other: Neurofibromatosis may have seizures. Enlarged neurofibromas can cause corresponding compression symptoms and may affect appearance. A single milk spot may be a “birthmark” with no adverse effects on human health, but if the number of milk spots is large and progressively larger, you should be alert to the presence of “neurofibromatosis”. If parents find “milk spots” on their children, it is recommended that they go to the hospital early for further examination.