ABSTRACT
Identification of new optic pathway tumors (OPTs) and progression of pre-existing OPTs in children with neurofibromatosis 1 (NF1) have been reported infrequently after age 6. The authors present eight children with NF1 (mean age 12.2 years) seen in three NF1 centers who had either late-onset (four of eight) or late-progressive (seven of eight) OPT. Continued monitoring of individuals with NF1 into adulthood for the development of OPTs and for progression of known OPTs is warranted.
Subject(s)
Astrocytoma/epidemiology , Neurofibromatosis 1/epidemiology , Optic Nerve Glioma/epidemiology , Optic Nerve Neoplasms/epidemiology , Adolescent , Adult , Age of Onset , Astrocytoma/diagnosis , Astrocytoma/genetics , Astrocytoma/therapy , Case Management , Child , Child, Preschool , Combined Modality Therapy , Disease Progression , Humans , Hypothalamic Neoplasms/epidemiology , Hypothalamic Neoplasms/genetics , Neurofibromatosis 1/diagnosis , Optic Nerve Glioma/diagnosis , Optic Nerve Glioma/genetics , Optic Nerve Glioma/therapy , Optic Nerve Neoplasms/diagnosis , Optic Nerve Neoplasms/genetics , Optic Nerve Neoplasms/therapy , Retrospective StudiesABSTRACT
We report a new family with oculodigitoesophagoduodenal syndrome (ODED syndrome), which associates microcephaly, abnormalities of the hands and feet, shortened palpebral fissures, tracheoesophageal fistula and duodenal atresia. In addition, previously unreported vertebral anomalies are described. This report further delineates the clinical and radiographic spectrum of this syndrome, providing useful information for diagnosis and family counseling.
