What are the symptoms of neurofibromatosis in infants?
Generally, common symptoms of infantile neurofibromatosis include café-au-lait spots, soft cutaneous nodules, iris Lisch nodules (brownish spots on the iris), scoliosis, and delayed intellectual development. If any discomfort symptoms appear, timely consultation at a regular hospital is recommended. Detailed analysis is as follows:
1. Café-au-lait spots
These usually appear at birth or shortly thereafter, presenting as light brown or dark brown patches with irregular shapes. They can appear anywhere on the body and may increase in number or size as the child grows older. These pigmentations are caused by abnormal development of neural crest cells leading to excessive deposition of skin pigment.
2. Soft cutaneous nodules
These nodules present as pinkish or skin-colored lesions on the skin surface. They are soft in texture, mobile, and commonly distributed on the trunk and limbs. The number may vary and they are formed due to abnormal proliferation of nerve sheath cells.
3. Iris Lisch nodules (brownish spots)
This is an ocular abnormality characterized by brownish spots located on the iris. These nodules represent typical features of iris hamartomas and are caused by abnormal development of ocular neural tissues during the embryonic period.
4. Scoliosis
This represents skeletal developmental abnormalities, presenting as lateral curvature of the spine, affecting normal skeletal growth and morphology. It can be caused by compression of tissues surrounding the spine due to neurofibromas or by inherent skeletal developmental abnormalities.
5. Delayed intellectual development
This表现为 infants showing delayed development in cognitive and language skills compared to peers. It is caused by neurofibromas affecting the development of the central nervous system and interfering with normal neural signal transmission.
Signs and symptoms of neurofibromatosis vary among individuals and may change as the condition progresses. Therefore, if parents notice any of the above symptoms in their infant, prompt medical consultation and detailed examination and diagnosis are recommended.
