NF Patients United

Global Network of Neurofibromatosis Patient Organisations

Research

Greece: On the Road to the NF Care Centre

Dr. Antonis Kattamis presented a paper about the Neurocutaneous Disorders

Four years ago, the First Department of Pediatrics of the University of Athens at Children’s Hospital Agia Sofia started a pilot multidisciplinary clinic in order to improve the clinical care of patients with NeuroCutaneous Disorders (NCD), with a special focus on the group of patients with NeuroFibromatosis (NF). Since then a total of 181 patients have been assessed, including 134 patients with NF-1, 7 with NF-2, 3 with segmental NF-1, 1 with Legius syndrome, 15 with Tuberous Sclerosis syndrome, 4 with Incontinentia Pigmenti, 4 with Sturge-Weber syndrome, 3 with PHACE syndrome and the rest with unclassified NCD.

In the NCD clinic, patients undergo physical examination, developmental assessment, growth and blood pressure monitoring, skin examination, ophthalmologic examination. Genetic counseling is offered when appropriate. Brain and spine MRI, spine X ray, hearing evaluation and other additional studies are performed based on clinically signs or symptoms.

The team of Greek specialists is on their way to create a dedicated care centre for NF patients

All patients are evaluated by a multidisciplinary team of specialists, including pediatric neurologist, dermatologist, oncologist, ophthalmologist, geneticist, orthopedist, neuroradiologist and psychologist. Patients followed at the clinic are mainly from the Attica and Peloponnese regions, but also a considerable number come from some Greek islands, and to a smaller extent from Central and Western Greece. The ambition is to become the center of reference for the care of this group of disorders in Greece.


Lambrini Sotiropoulou (NF Greece), Cristina Koilia (the Greek Alliance for Rare Diseases), Antonis Kattamis (Medical School of Athens Univ., Aghia Sophia), Maria-Roser Pons (Medical School of Athens Univ)

The experience of the above mentioned multidisciplinary NCD/NF-clinic has been presented with scientific presentations in international meetings. In 2017, at the meeting of the International Society of Paediatric Oncology (SIOP) that took place in Washington, the group presented our experience with gliomas in patients with NF-1, with the presentation entitled: „Spectrum of malignancies in patients with neurofibromatosis (NF): Experience from the first Greek NF center“.

In 2018, at the Joint Global Neurofibromatosis Conference that took place in Paris, the team presented their clinical experience with the presentation „Multidisciplinary Management of Neurofibromatosis (NF): Three year experience of a Pediatric Neurocutaneous Clinic in Greece“. They also shared their clinical experience to the Greek community of Pediatric Neurologists at the 18th Panhellenic Pediatric Neurology Meeting in Athens last December 2018. Finally, last October 2018, the molecular biologist at their center published the article „Phenotypic expression of a spectrum of Neurofibromatosis Type 1 (NF1) mutations identified through NGS and MLPA“ at the Journal of the Neurological Sciences.

The hope is that in the nearest future this experience allows the team to participate in the development of treatment guidelines that are so necessary for NF patients.

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