Managing children with neurofibromatosis type 1: what should we look for?.

Cristina L Martins, J Paulo Monteiro, Anabela Farias, Rita Fernandes, Maria José Fonseca

Abstract


Neurofibromatosis type 1 (NF1) is one of the most common neurocutaneous disorders. It is an autosomal dominant hereditary condition, although an half of all cases are related with spontaneous mutations. Mutations within NF1 gene (c17q11.2) result in loss of function of the protein neurofibromin leading to increase cell proliferation and tumorigenesis. NF1 is a variable condition concerning its clinical manifestations. It may also present different complications through life--a capital issue to pediatric management.Descriptive, retrospective, study based on clinical notes of patients with NF1 referred to Unidade de Neuropediatria e Desenvolvimento--Hospital Garcia de Orta, between 1992 and June of 2005. Diagnostic criteria were those of National Institute of Health Consensus Development Conference.Thirty-five patients were included (20 male,15 female). Age distribution: <3-year-old--4; 3-6 year-old--3; >6-year-old--28. NF1 diagnosis was proposed at the mean age of 4,7 year-old. Patients were referred for assessment mainly for "café-aulait" spots. Other motives included: first-degree relative with NF1, cutaneous neurofibroma, plexiform neurofibroma, tibia's pseudarthrosis, headaches, seizures, failure to thrive and learning disabilities. Diagnostic criteria included: café-au-lait spots (35/35), first degree relative with NF1 (22/35), axillary or inguinal freckling (9/35), neurofibromas (5/35), iris Lisch nodules (4/35), optic glioma (3/35), dysplastic bony lesions (3/35), plexiform neurofibroma (2/35). Three patients presented short stature and 11/35 macrocephaly. MR imaging revealed unidentified bright signals (UBO's) in 12 cases. Cognitive and psychological evaluation was performed in 12 cases. Mean IQ was 87. Attention-deficit-hyperactivity disorder was present in 40% (14/35) of all cases. Learning disabilities were identified in 48% of cases however only nine children had specifically educational programming. Visuospatial deficits were present in 5/35 children, reading deficits in 4/35, graphomotor deficits in 4/35, language deficits in 3/12 and dyscalculia in 3/12 cases. Three children presented emotional disturbance and other three children social skills deficits.Management of children with NF1 should focus on complications related with its multiple clinical manifestations, some of them age-dependent. It should also involve careful neuropsychological evaluation and observe the development of social skills. A high suspicion and an early intervention are essential to prevent a poor social functioning and outcome.

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