1 - Serviço de Neurocirurgia, Centro Hospitalar Universitário de Lisboa Central, Lisboa
2 - Serviço de Pediatria, Hospital Dona Estefânia, Centro Hospitalar Universitário de Lisboa Central, Lisboa
3 - Serviço de Neurorradiologia, Centro Hospitalar Universitário de Lisboa Central, Lisboa
4 - Unidade de Neurocirurgia Pediátrica, Hospital Dona Estefânia, Centro Hospitalar Universitário de Lisboa Central, Lisboa
- Comunicação oral apresentada no Congresso da European Society of Pediatric Neurosurgery 2018, publicada sobre forma de resumo na revista Child’s Nervous System 2018;34:1047
Resumo:
Introduction: Neurofibromatosis type 1 (NF1) is a common genetic disorder caused by a mutation in the NF1 gene on chromosome 17 and is associated with multisistemic manifestations including susceptibility for benign and malignant tumors of the central and peripheral nervous system. NF1 patients are assessed regularly by an organised multidisciplinary team in our institution.
Purpose: To analyse a NF 1 pediatric population followed by a multidisciplinary team, considering particularly neurological manifestations and neurosurgical care.
Methods: The authors retrospectively review all NF 1 cases currently followed by the Neurocutaneous Diseases multidisciplinary team in Hospital Dona Estefânia. All cases included until November 2017 in the team’s database were reviewed. Results were compared with other series previous published in the literature.
Results: A total of 73 patients were included, with a median age of 11±5,6 years, male:female ratio being 1:1. Genetic testing was performed in 54 (74%) patients and molecular confirmation obtained in 45 (61,6%) patients. Family history was absent in 56,1% of our population. NIH criteria were formally satisfied in 89% of the patients. Nearly all (72) patients presented six or more café-au-lait macules, 55% presented axillary or inguinal freckling, 38% presented two or more neurofibromas or one or more plexiform neurofibromas, 27% presented Lisch nodules and 7% presented sphenoid wing or long-bone dysplasia. Regarding neuroimaging findings, 68% of the patients displayed Unidentified Bright Objects (UBOs) on cranial MRI, 11 (15%) presented scoliosis, 7 (9,5%) presented some degree of ventriculomegaly or ventricular dysmorphy. In one patient, choroid plexus hypertrophy was present. Four cases of vascular lesions were recorded, three cases of arterial stenosis and one developmental venous anomaly (AVD). Chiari type 1 malformation was present in four patients, two requiring surgery. Optic gliomas were documented in 21 (28,7%) patients, in 16 (21,9%) bilaterally. Plexiform neurofibromas were noted in 18 (24,6%) patients, involving predominantly the cervical and dorsal regions but also cranial nerves. Brain-stem lesions were found in four patients. Neurological examination was altered in 13 (17,8%) patients. Developmental delay was present in 20 (27,4%), behaviour problems in 22 (30%) and learning disabilities in 32 (43,8%) patients. Neurosurgical treatment was performed in 14 (19%) patients. The most frequent procedure was laminectomy for removal of neurofibromas, mainly cervical (6 patients), supratentorial craniotomy (3 patients) and infratentorial craniotomy (1 patient). Pathology revealed 2 pilocytic astrocytomas, 1 DNET and 1 Gangioglioma. Suboccipital craniectomy and C1 laminectomy was performed to treat a Chiari type 1 malformation. Two endoscopic third-ventriculostomies were performed and one ventriculo-peritoneal shunt was placed.
Conclusion: Neurological manifestations are common in NF1. Neurosurgical intervention is required in a small group of patients. Pediatric Neurosurgeons should be part of a multidisciplinary team in the long-term management of these patients and contribute both in imaging surveillance and surgical intervention.
Palavras Chave: Neurofibromatosis type I, Neurological manifestations