Beware of multiple neurofibromatosis in children

Neurofibromatosis (NF) is an autosomal dominant genetic disease caused by the disorder of ectodermal and mesodermal tissues, often involving multiple systems and organs, with the central nervous system being the most obvious. It is often accompanied by scoliosis, meningioma, etc.

There are two types: NFI type is characterized by widespread or localized appearance of café-au-lait spots on the skin and subcutaneous lumps; NFII type is central neurofibromatosis, manifested as schwannomas of bilateral acoustic nerves, meningiomas and schwannomas of the dorsal roots of spinal nerves, with few skin changes.

It is not uncommon for the disease to occur in children, and sometimes the skin and central nervous system are affected at the same time.

The patient, a 2-year-old boy, had right upper limb weakness, café au lait spots on the skin (large patches on the right upper limb and spots on the trunk), subcutaneous masses in the armpits and elbows, and scoliosis.

MRI: communicating mass inside and outside the C6-7 vertebral canal, with obvious enhancement and compression of the cervical spinal cord.

Postoperative imaging review showed that the tumor was completely removed.

Pathology: Neurofibroma.

Symptoms disappear after surgery. For infants and young children who have poor limb movement, especially those with coffee-colored spots on the skin or multiple nodules under the skin, they should be alert to this disease and seek medical treatment in time.