ESPE Abstracts

Background: Neurofibromatosis 1 (NF1) is a clinically heterogeneous genetic condition caused by the mutation of the NF1 gene. Individuals with NF1 have an increased risk of developing tumours, both benign and malignant. The most characteristic are plexiform neurofibromas, occurring in almost all patients. Other manifestations include café-au-lait macules, ocular involvement, intertriginous freckling, and learning disabilities or behavioural problems. There is an increased incidence of endocrine disorders such as precocious puberty or GH deficiency, commonly occurring as a complication of visual pathway glioma involving the hypothalamic region. Most signs are visible during infancy, but many symptoms occur as the person ages. Its severity varies widely.

Objective: Our aim was to record the incidence, presentation, characteristics and progression of Neurofibromatosis 1 in the West of Scotland, particularly focusing on predictive factors for incidence and outcomes.

Method: Children diagnosed with Neurofibromatosis 1 at The Royal Hospital for Children Glasgow, between January 2005 and October 2022 were selected. Clinical characteristics were collected through retrospective electronic case note review.

Results: Our pool includes 35 patients with a diagnosis of NF1. Of these, 40% (14/35) reported a positive family history for NF1. Half of the patients did not need treatment. Among those that did (19/35, 54%), 6/19 had a positive family history. Visual problems were present in most patients, with only 5/35 not reporting any visual disturbance. The most frequent tumor was by far visual pathway glioma, diagnosed in 26/35 patients. Other tumors diagnosed were pilocytic astrocytoma (6/35), plexiform neurofibroma (4/35), brainstem glioma (1/35), MPNST (1/35). Endocrine complications were seen in 11/35. The most common was precocious puberty, present in 26% of patients (9/35). Other endocrine conditions were GH deficiency and hypopituitarism. Of the 11 patients that presented with endocrine problems, 6 of them had also undergone treatment related to the tumour. Skeletal problems were seen in 11/35 patients.

Conclusion: Visual pathway glioma, which can lead to visual and endocrine dysfunction, remain the major issue in the children with NF-1. Whilst only half of the NF-1 patients in our cohort developed problems, it is important they are seen regularly, preferably in a designated multi-disciplinary clinic to ensure adequate screening and follow up, including endocrine input.