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CC BY-NC-ND 4.0 · Arquivos Brasileiros de Neurocirurgia: Brazilian Neurosurgery 2023; 42(02): e152-e159
DOI: 10.1055/s-0042-1749086
Review Article | Artigo de Revisão

Spinal Surgery in Patients with Type-1 Neurofibromatosis: A Comprehensive Review

Cirurgia da coluna em pacientes com neurofibromatose do tipo 1: Uma revisão abrangente
Andrei Fernandes Joaquim 
1   Discipline of Neurosurgery, Department of Neurology, Faculdade de Ciências Médicas, Universidade Estadual de Campinas (UNICAMP), Campinas, São Paulo, SP, Brazil
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Abstract

Type-1 neurofibromatosis (NF1) is a neurocutaneous syndrome classically known as peripheral NF to distinguish it from type-2 NF (central NF). Its main characteristic is the high predisposition to the growth of multiple tumors, which specially arouses the interest of spinal surgeons due to the presence of spinal cord compression and spinal deformities.

Considering this, we have performed a comprehensive review, with illustrative cases of the main manifestations of NF1, focusing on the perspective of the spine surgeon. Articles were grouped according to the following subjects: diagnosis, skeletal complications, spinal deformity, and spinal tumors. For all of them, a detailed discussion on pearls for practice was presented.

The diagnosis of NF1 is based on the presence of at least two out of seven criteria. Cutaneous findings are very common in NF1, and the most usual tumor is cutaneous neurofibroma (NFB). Plexiform neurofibromas are also found and present a high risk of becoming malignant peripheral nerve sheath tumors (MPNSTs), reducing life expectancy. Astrocytomas, especially pilocytic astrocytomas, are the most common central nervous system tumor, including in the spinal cord. Surgery is necessary to resect as much as possible without adding new neurological deficits. Spinal deformities are also commonly found (in 30–70% of the cases), potentially associated with dystrophic changes, which may result in acute and rapid progression.

In the present review, we discuss specific characteristics found in this group of patients which are of paramount importance to properly manage this challenging disease.

Resumo

A neurofibromatose do tipo 1 (NF1) é uma síndrome neurocutânea classicamente conhecida como NF periférica para distingui-la da NF do tipo 2 (ou NF central). Sua principal característica é a alta predisposição ao crescimento de múltiplos tumores, o que desperta especialmente a interesse dos cirurgiões de coluna devido à presença de compressão medular e deformidades.

Diante disso, realizamos uma revisão abrangente, com casos ilustrativos das principais manifestações da NF1, com foco na perspectiva do cirurgião de coluna.

Os artigos foram agrupados de acordo com os seguintes assuntos: diagnóstico, complicações esqueléticas, deformidade da coluna vertebral e tumores da coluna vertebral. Para todos esses assuntos, uma discussão detalhada sobre dicas para a prática foi apresentada. O diagnóstico de NF1 é baseado na presença de pelo menos dois dos sete critérios. Achados cutâneos são muito comuns na NF1, sendo o tumor mais comum o neurofibroma cutâneo (NFB). Neurofibromas plexiformes também são encontrados e apresentam alto risco de se tornarem tumores malignos da bainha do nervo periférico (MPNSTs), reduzindo a expectativa de vida. Astrocitomas, especialmente astrocitomas pilocíticos, são os tumores mais comuns no sistema nervoso central, inclusive na medula espinhal. A cirurgia é necessária para ressecar tanto quanto possível sem adicionar novos déficits neurológicos. As deformidades da coluna também são comumente encontrada (em até 30–70% dos casos), potencialmente associada a deformidades distróficas que podem resultar em progressão aguda e rápida.

No presente artigo, discutimos características específicas encontradas neste grupo de pacientes que são de suma importância para manejar adequadamente pacientes com esta doença desafiadora.

Keywords

neurofibromatosis - spinal surgery - pilocytic astrocytomas - dystrophic - deformity

Palavras-chave

neurofibromatose - cirurgia da coluna vertebral - pilocítico astrocitomas - distrófico - deformidade


Publication History

Received: 06 February 2022

Accepted: 06 April 2022

Article published online:
28 June 2023

© 2023. Sociedade Brasileira de Neurocirurgia. This is an open access article published by Thieme under the terms of the Creative Commons Attribution-NonDerivative-NonCommercial License, permitting copying and reproduction so long as the original work is given appropriate credit. Contents may not be used for commecial purposes, or adapted, remixed, transformed or built upon. (https://creativecommons.org/licenses/by-nc-nd/4.0/)

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