A member asked:

My son has two cafe au lait spots and possible epilepsy (nocturnal seizures). doctor mentioned genetic disorder. is it possible?

6 doctors weighed in across 2 answers

Confusing question: Cafe au lait spots are often part of neurofibromatosis, a disorder that can arise as a new mutation in the genes or be passed from a parent. Kids with > 6 spots > 5mm in diameter or adolescents >15mm diameter may have the disorder, but the spots are randomly found on normal people.Discuss with your pediatrician.

Answered 3/31/2014

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Dr. Anna-Kaisa Niemi answered

Specializes in Clinical Genetics

Yes, it is possible: Whenever a child has more than one thing going on, or one thing (e.g. Seizures) and additional physical findings (e.g. Cafe au lait spots) the possibility of a genetic condition behind findings increases. Both seizures and cafe au lait spots separately are relatively common. Combination increases, but does not diagnose, a genetic cause. I would recommend formal evaluation by a clinical geneticist.

Answered 5/8/2015

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