The value of screening tests in children with neurofibromatosis type 1 (NF1)
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ANNUAL ISSUE PAPER
The value of screening tests in children with neurofibromatosis type 1 (NF1) Eloïse Baudou 1,2
&
Yves Chaix 1,2
Received: 16 May 2020 / Accepted: 28 May 2020 # Springer-Verlag GmbH Germany, part of Springer Nature 2020
Abstract Neurofibromatosis type 1 (NF1) is one of the most prevalent rare diseases. Whilst penetrance is complete by adulthood, its expressivity is extremely variable with potential multi-systemic complications. Although NF1 is diagnosed clinically, molecular analysis has a part to play in the screening of atypical forms and in genetic counselling. The screening of complications is primarily based on a full annual clinical examination and an ophthalmological examination. Targeted paraclinical examinations will be carried out when clinical signs appear (neurological, ophthalmological, cutaneous, endocrinological, orthopaedic and cardiovascular, etc.). The implementation of routine paraclinical examinations, which are stressful for families, expensive and sometimes invasive (MRI under general anaesthetic), is only of minor interest and does not lead to any change in treatment if the child is asymptomatic. Part of the consultation should focus on evaluation of psychomotor development and learning difficulties, which are common features of this condition (50%), and impact the child’s quality of life. Keywords NF1 . Screening tests . Child . MRI
Introduction Neurofibromatosis type 1 or NF1 is one of the most prevalent rare, genetic disorders (1 case in 3,000 births). In our centre, which covers the Midi-Pyrénées region in Southern France, with an annual birth rate of 34,9531, approximately 200 children are actively followed up each year. There is potential multi-systemic involvement. This is a progressive disease with clinical signs gradually appearing throughout childhood. Its clinical expressivity is extremely variable, even within the same family. This variability depends on genetic and environmental factors. The complications are potentially severe. Given the tumour-suppressing activity of the NF1 gene, there is an increased propensity for tumours to develop in a variety 1
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* Eloïse Baudou [email protected] 1
Paediatric Neurology Unit, Children’s Hospital, Toulouse University Hospital , 330 Avenue de Grande-Bretagne, 31069 Toulouse, France
2
ToNIC, Toulouse NeuroImaging Center, Toulouse University Center, Inserm, UPS, Toulouse, France
of locations such as the optic pathways or central nervous system, including the spinal cord, in particular. In view of its frequency, the variability of its phenotype expression and the variability and severity of the potential complications, NF1 poses a genuine challenge for clinicians who follow-up these patients. Until now, diagnosis of this neurocutaneous syndrome has been primarily clinical, based on the presence of at least 2 diagnostic criteria out of 7, agreed during a 1987 consensus conference [1] and reviewed in 1997 [2]. The sensitivity of these diagnostic criteria depends on the patient’s age since clin
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