Affiliations: Department of Neurology, Children's Hospital Boston,
Longwood Avenue, Boston, MA, USA | Department of Psychiatry, Children's Hospital/Harvard
Medical School, Boston, MA, USA | Division of Genetics/Department of Medicine,
Children's Hospital Boston, Boston, MA, USA
Note: [] Correspondence: Dr. Nicole J. Ullrich, M.D, PhD, Department of
Neurology, Children's Hospital Boston, 300 Longwood Avenue, Boston, MA, 02446,
USA. Tel.: +1 617 355 3193; Fax: +1 617 730 0282; E-mail:
nicole.ullrich@childrens.harvard.edu
Abstract: Segmental neurofibromatosis type 1 (NF1) describes patients with
manifestations of NF1 that are restricted to one region of the body; little has
been documented in the way of significant medical or developmental problems in
patients with segmental NF1 that are frequently noted in generalized NF1. We
performed a retrospective review of patients with segmental NF1 to determine
the prevalence of academic and cognitive difficulties in children with
segmental NF1 compared to children with generalized NF1. A total of 62 patients
were identified with segmental NF1. Almost all patients had pigmentary changes
with caféau lait macules and skin-fold freckling that were limited to
one region of the body. Nearly half of children with segmental NF1 had
individualized educational plans and received supportive academic services
(47%, which was close to the frequency of 57% in generalized NF1). This study
provides preliminary evidence that children with segmental NF1 may be at
increased risk for academic and cognitive difficulties. We recommend close
follow-up and developmental screening of all children with segmental NF1, as is
done for children with generalized NF1.
