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AUGUST 2022 InTouch | 15 lait spots on the skin, axillary or inguinal freckling, two or more neurofibromas of any type or one plexiform neurofibroma, optic pathway glioma, two Lisch nodules or two choroidal abnormalities, a distinctive osseous (bone) abnormality, or a confirmed pathogenic NF1 variant in the blood. A diagnosis can be ascertained if an individual meets two or more of these criteria. A child of a parent who is known to have NF1 needs only to fulfil one criterion to also be diagnosed with NF1. Features of Neurofibromatosis Type 1 NF1 affects everyone differently. Most people with NF1 lead healthy lives with little need for medical intervention, but in about a third of cases there may be more significant health problems. These include diffusely spreading deeper nerve growths (plexiform neurofibromas), curvature of the spine, bowing of the tibia in the lower leg, tumours of the optic nerve (gliomas), seizures, and severe hypertension. There is also a slightly increased risk of malignant tumours in the peripheral nervous system and elsewhere. Up to 80% of children with NF1 can experience cognitive and/ or behaviour difficulties which may involve language, fine and gross motor skills, attention, organizing and processing, emotion regulation, and social skills. Up to 40% of children may present with a specific learning disability or attention-deficit/hyperactivity disorder, which can impact overall school performance. However, most children and adults with NF1 have normal intelligence. Children may experience significant self-esteem NEUROFIBROMATOSIS TYPE1 problems in adolescence which is exacerbated by the appearance of the neurofibromas. There are two other forms of neurofibromatosis which are different from NF1 – NF2 and Schwannomatosis. NF2 usually first presents in the teenage years or early 20s with bilateral acoustic neuromas and is associated with a variety of benign brain and spinal tumours including meningiomas, cataracts and only occasional skin manifestations. Schwannomatosis is characterised by multiple schwannomas (benign nerve sheath tumour) of cranial, spinal, and peripheral nerves which can be very painful, but which are not associated with the ocular, auditory, or skin changes of NF2. Management of Neurofibromatosis Type 1 There is currently no cure for neurofibromatosis type 1. Once a diagnosis is ascertained, management involves In an autosomal dominant disorder, the altered gene is a dominant gene located on one of the non-sex chromosomes (autosomes). Autosomal dominant Unaffected mother Affected Unaffected Affected father Unaffected child Unaffected child Affected child Affected child