Question

My child has been feeling unwell recently. What are the symptoms of pediatric neurofibromatosis?

Answer

Pediatric neurofibromatosis can manifest in a range of symptoms, including:

  1. Cafe au lait spots: Light brown patches that appear at birth or during childhood, which may increase in size and number over time.
  2. Skin bumps: Visible lumps or nodules on the skin, sometimes with stalks, which can become more pronounced with age.
  3. Eye abnormalities: Such as pigmented iris hamartomas (Lisch nodules), which are typically observed under slit lamp examination.
  4. Neurological issues: May include learning difficulties, behavioral disorders, and occasionally intellectual disability or epilepsy seizures.
  5. Bone changes: May lead to skeletal maldevelopment, pathological fractures, or pseudarthrosis. These symptoms are often associated with autosomal dominant inheritance, but penetrance is not 100%. If there is any concern, it is advisable to consult a specialist doctor for diagnosis and treatment.