RESUMO
Congenital deformities of the spine lead to an imbalance in the longitudinal growth of the spine. These growth abnormalities may lead to three main patterns of deformity: scoliosis (the most common), kyphosis or lordosis (the least common). Despite the recent improvements in imaging and the routine use of neuromonitoring in the surgical treatment of congenital kyphosis, this surgery may be associated with a high rate of complications such as neurologic deficit, pulmonary thromboembolic events, infection, deep vein thrombosis, implant failure, and dural injury. In this paper, we report a rare yet devastating complication to raise awareness about patients who have unexpected neurological deterioration after spinal surgery. Early recognition of remote cerebellar haemorrhage (RCH) symptoms is crucial since rapid diagnosis and management lead to a favourable outcome for this potentially life-threatening complication. To our knowledge, this is the first reported case in children.
RESUMO
Given the complexity of neurocutaneous syndromes, a multidisciplinary approach has been advocated in order to provide optimum care. Subjects and Methods: Retrospective analysis of a cohort of 157 patients during a 3-year period, seen at a newly developed neurocutaneous clinic in a pediatric tertiary care hospital in Athens (Greece); and systematic chart review of the patients diagnosed with neurofibromatosis type 1 during this time period. Results: The most frequent neurocutaneous syndromes were neurofibromatosis type 1 (NF1) in 89 patients and tuberous sclerosis complex in 17. In 20.38% of patients a neurocutaneous syndrome was not confirmed. Approximately 2/3 of the NF1 patients underwent genetic analysis, and for 76.67% of them, a pathogenic mutation on the NF1 gene was revealed. Eighty-one patients manifested with generalized NF1 and eight with mosaic NF1. Dermatological manifestations included café-au-lait macules in all patients, followed by axillary and/or inguinal freckling (n = 57), external plexiform neurofibromas (n = 17), and cutaneous and subcutaneous neurofibromas (n = 11). Approximately half of patients had learning disabilities and attention deficit hyperactivity disorder, followed by mental retardation (n = 9), autistic spectrum disorders (n = 4), headaches (n = 3) and seizures (n = 2). Neuroimaging showed characteristic areas of hyperintensity on T2-weighted images in 74.07% of patients and optic pathway glioma in 19.75%. Two patients developed malignant peripheral sheath nerve tumor. Conclusions: Neurocutaneous syndromes are clinically heterogeneous and the surveillance of potential clinical complications is challenging. The availability of genetic diagnosis and novel imaging methods in this group of disorders is likely to further expand their clinical spectrum. Guidelines for assessment and management will need to be modified based on new available data.