A 019-year-old boy with a rare disease with an incidence of 1/3000 has a huge tumor in the neck and chest cavity and an unknown number of small tumors in the body One day in April 2024, we first saw this little boy with a huge tumor in his neck in a rented house in an urban village outside the South Fourth Ring Road in Beijing, named "Little Stone". A huge tumor was like a small bulging lead ball embedded in his neck, and the tumor seemed to weigh several pounds, so that he staggered when he walked. Without his mother's support, it seemed like he could fall at any moment. Although our camera is a meter away from the small rock, we can still clearly hear the sound of the small stone panting hard.
Xiaoshi has a height and weight that does not match his age: 9 years and 11 months, 1.23 meters tall and weighing 24 kilograms. Compared to children of the same age, Little Stone seems to be pitifully skinny. Because of the compression of the tumor, Xiaoshi often chokes when eating. What's even more shocking is that Xiaoshi has undergone 4 surgeries in the previous 6 years. But I never expected that since February this year, the tumor in Xiaoshi's neck has nearly doubled in size in just three months. Such a rapid increase in speed made Xiaoshi's mother anxious and worried. Because of Xiaoshi's recent PETCT examination, the results have been alerted to the risk of malignant transformation of tumors.
In addition to this, Xiaoshi's left arm has a strange black-gray color, and the surface of the skin is also very rough, and what is even more incredible is that the skin is covered with dense small tumors, so that the left arm has become unusually large, almost twice the size of the right arm. There are also tumors of different sizes in the thoracic cavity, intracranium, and cervical vertebrae of small stones.
The disease caused by small stones is neurofibroma type 1, which grows in a local mass and is called a subordinately neurofibroma. Its biggest feature is that after the NF1 gene mutation is inactivated, it causes a series of problems in multiple systems of the body, and it is also manifested in this part of the body, which may be a tumor, café au lait spots on the skin, and even prone to some cardiovascular and cerebrovascular or other corresponding problems. 02 Xiaoshi's illness is inherited from his mother My sister was also not spared, and the 37-year-old mother took her children to seek medical treatment alone for 9 years, and in the face of 9 years, Xiaoshi's mother has been deeply trapped in self-blame and guilt. Xiaoshi was born with café au lait spots, and when he was 5 months old, there were many small tumors under the skin of Xiaoshi's left arm, but the local doctor did not diagnose it, until Xiaoshi's sister also showed symptoms and went to the local hospital for examination, and finally diagnosed the siblings. Subsequently, the mother and son all underwent genetic testing, and finally found that Xiaoshi's mother also suffered from neurofibroma, but there were no obvious symptoms.
My sister is a year and a half older than Xiaoshi, and her condition is milder than Xiaoshi, and in February this year, after surgery to remove the tumor in Shanghai, she can now go to school at home normally.
Regarding the information about Little Stone's father, Gillian is reluctant to say more. In the past 9 years, she has been running back and forth between home and hospital with a pair of children alone, sleeping in the open air, leaving early and returning late. Life is a long practice, but for Gillian who is only 37 years old, it is too cruel. The woman is weak, and the mother is strong, Gillian uses her weak shoulders to support the whole world of the two children. 03 Doctors and patients went to the top doctor team in both directions, and worked hard to find a way out for the "little stone", in order to find a way out for her son, her mother Gillian took her son to the outpatient clinic of Director Wang Shengcai of the Department of Otolaryngology-Head and Neck Surgery of Beijing Children's Hospital. Because Xiaoshi's tumor is huge, the condition is serious, and it is a special rare disease, Director Wang Shengcai immediately reported to the dean, Professor Ni Xin, and applied for consultation for Xiaoshi.
Ni Xin, President of Beijing Children's Hospital, is a well-known expert in the field of otolaryngology, head and neck tumors in China. He led the team to create the first MDT clinic for rare diseases in children in China, and standardized the diagnosis and treatment of multiple tumors in children such as neurofibroma type 1, rhabdomyosarcoma, and neuroblastoma.
Imaging data show that the huge tumor in the neck of the small stone has compressed the esophagus and will soon involve the trachea, once the trachea is deflated, the small stone will have dyspnea and then respiratory failure is life-threatening, so surgical removal of the neck tumor is imminent; The two huge tumors in the thoracic mediastinum are currently squeezing the lungs and heart, and the tumors in the back of the neck have also squeezed the cervical spine, causing 90-degree cervical kyphosis. How to deal with tumors in the cervical spine? These are all critical questions before doctors.
Although Xiao Shi's condition is very serious, Dean Ni knows that Xiao Shi and his mother also need psychological relief and confidence at this moment. After Dean Ni's patient guidance, Xiaoshi's mother was able to calm down and regain hope in life. Subsequently, Beijing Children's Hospital worked closely with multiple departments to formulate the optimal surgical plan for Xiaoshi, striving to minimize the risk of surgery, and whether the nature of Xiaoshi's neck tumor is benign or malignant requires pathological analysis after surgical resection of the tumor to be finally confirmed. "Lifeline" popular science: Neurofibroma type 1.1 is an autosomal dominant genetic disease, if one parent has this disease, the child is prone to this disease. 2. Patients infected with neurofibroma type 1 have different symptoms, including skin pigmentation, hypertension, skeletal deformity, scoliosis, learning disabilities and optic neuroma.