Phacomatoses in the pediatric age group
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ANNUAL ISSUE PAPER
Phacomatoses in the pediatric age group Shlomi Constantini 1,2,3 & Martin U. Schuhmann 4,5 Received: 27 June 2020 / Accepted: 6 July 2020 # Springer-Verlag GmbH Germany, part of Springer Nature 2020
Abstract The most common phacomatoses in children that need surgical attention are neurofibromatosis 1 and 2, tuberous sclerosis complex, Sturge-Weber disease, Von Hippel-Lindau disease, and neurocutaneous melanocytosis. All are rare and, as genetically determined disorders, all complex multisystem diseases with multiple manifestations outside the CNS. Diagnostics, management recommendations, and surgical care are age-specific and require individualization. The lifelong multidimensional disease burden demands a multidisciplinary and well-coordinated management approach. The consequence of these boundary conditions is that management of children with a phacomatosis is everything else but simple, straight forward, and intuitive. This Special Annual Issue is designed to serve as an up-to-date encyclopedic reference for all aspects of management of phacomatoses in the pediatric age group. Keywords Phacomatoses . Pediatric age group . CNS . Neurofibromatosis type 1 . Neurofibromatosis type 2 . Tuberous sclerosis complex . Sturge-Weber disease . Von Hippel-Lindau disease . Neurocutaneous melanocytosis
Preface Phacomatoses are rare genetic syndromes, thus seen quite seldom in general practice, and tend to concentrate in dedicated centers for specific disease types. As multisystem diseases, only a portion of their symptoms and pathologies manifests within the CNS, or within the treatment scope of pediatric neurosurgeons. Note that some aspects, even though manifested within the CNS, cannot be treated surgically. Furthermore, phacomatoses encompass a diverse kaleidoscope of phenotypes, resulting in very individual disease constellations. Thus, knowing or having identified the underlying genetic disorder is far from being a blueprint for further disease
* Martin U. Schuhmann [email protected] 1
Gilbert Israeli and International Neurofibromatosis Center, Tel Aviv, Israel
2
Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel
3
Department of Paediatric Neurosurgery, Dana Children’s Hospital, Tel Aviv Medical Center, Tel Aviv, Israel
4
Centre of Neurofibromatosis at the Centre of Rare Diseases, Tübingen University Hospital, Tübingen, Germany
5
Division of Paediatric Neurosurgery, Department of Neurosurgery, Tübingen University Hospital, Tübingen, Germany
management. Furthermore, management in the pediatric age group is more complex than that in adults. Manifestations and complications in infants, toddlers, children, and adolescents (younger and older) are very age-specific in diagnostics and care, in terms of patient needs and demands, compliance, and other limitations. The initial consultation might, in some cases, begin with prenatal counseling when one of the parents harbors the disease, or when an unexpected intrauterine finding emerges. Therefore, an interdiscip
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