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Almost of all patients with neurofibromatosis type I show caf6-au-lait macules on their skin.
These macules are thought to be early sign of neurofibromatosis in childhood.
We experienced a case of neurofibromatosis type I in a 10-year-old-boy who did not have
caf6-au-lait macules, but progressive psychomotor retardation, short attention span, hyperactivity
and megalencephaly. The brain C-T findings showed diffuse cerebromalacia and ventriculomegaly.
We confirmed the... |