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.
Keywords
Segmental - mosaic - neurofibromatosis - cognitive - learning disabilities
