Clinical Presentation of Patients With Neurofibromatosis Type 1 in Infancy and Childhood: Genetic Traits and Gender Effects

Abstract

The clinical presentations of 32 patients with neurofibromatosis type 1 were examined based on genetic traits, clinical findings, electroencephalogram, and neuroimaging findings. Twenty-eight sequential magnetic resonance images showed multifocal hyperintense T2-weighted images in 14 patients. Seven (5 boys and 2 girls) of the 8 patients (88%) who inherited neurofibromatosis type 1 from affected mothers, and 7 (2 boys and 5 girls) of the 16 de novo patients (44%) had multifocal hyperintense T2-weighted images. In contrast, the patients who inherited this disease from affected fathers did not have any multifocal hyperintense T2-weighted images. Multiple plexiform neurofibromas were observed in 4 patients, of whom 3 boys inherited through at least 3 generations of women. They all presented severe psychomotor delay and epilepsy. These findings suggest that genetic traits, especially through the passage of several generations of women, may affect the clinical presentation in patients with neurofibromatosis type 1.