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

Department of Pediatrics and Child Neurology, Department of Brain and Nerve Science, Oita University Faculty of Medicine, Oita, Japan, suenobu{at}med.oita-u.ac.jp

Kensuke Akiyoshi, MD

Department of Pediatrics and Child Neurology, Department of Brain and Nerve Science, Oita University Faculty of Medicine, Oita, Japan

Tomoki Maeda, MD

Department of Pediatrics and Child Neurology, Department of Brain and Nerve Science, Oita University Faculty of Medicine, Oita, Japan

Seigo Korematsu, MD, PhD

Department of Pediatrics and Child Neurology, Department of Brain and Nerve Science, Oita University Faculty of Medicine, Oita, Japan

Tatsuro Izumi, MD, PhD

Department of Pediatrics and Child Neurology, Department of Brain and Nerve Science, Oita University Faculty of Medicine, Oita, Japan

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.

Key Words: neurofibromatosis type 1 • genetic traits • gender effect • generation passage • hyperintense T2-weighted images

Journal of Child Neurology, Vol. 23, No. 11, 1282-1287 (2008)
DOI: 10.1177/0883073808318539


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