1 - Serviço de imagiologia neurológica, Centro Hospitalar Universitário Lisboa Norte - Hospital Santa Maria, Lisboa, Portugal
2 - Serviço de Neurorradiologia, Hospital Garcia de Orta, Almada, Portugal
3 - Serviço de Neurorradiologia, Hospital Dona Estefânia, Centro Hospitalar Universitário Lisboa Central, Lisboa Portugal
- XVII Congresso da SPNR, 25 e 26 de Novembro de 2022, Lisboa
Introduction/Objectives: Neuroschisis is a rare embryonic malformation described when clefts remain in the neural plate or tube, that can range from minor cleft formation to complete neuroschisis of the spinal cord. There is a strong association between neuroschisis and patients with various malformations of musculoskeletal structures, and of several internal organs with mesodermal origin. These malformations are labelled as axial mesodermal dysplasia complex malformations, and includes many syndromes such as Goldenhar, Klippel-Feil and VACTERL. Our purpose is to highlight, through a case report, that clefts seen on the cervicomedullary junction/spinal cord could signify neuroschisis and this abnormality could help in the diagnosis of mesodermal malformations syndromes.
Material and Methods: Here in, imaging findings of a 1-year-old female patient with Pakistan origin that was referred for evaluation of musculoskeletal abnormalities (vertebral malformations and varus feet), short neck with reduced head mobility, low hair line implantation and abnormal hearing having failed the neonatal hearing screening tests.
Results: In the imaging studies various malformations such as clefts in the cervicomedullary junction, inner ear, craniovertebral and vertebral malformations were detected.
Conclusions: When clefts are present in the cervicomedullary junction/spinal cord neuroschisis should be evoked. This embryonic abnormality can be found in a few entities and axial mesodermal dysplasia complex malformations should be high on the differential diagnosis, especially if there are abnormalities with mesodermal origin. This will help to prevent a delay in diagnosis or avoid misdiagnosing the patients.
Keywords: Neuroschisis; Klippel-Feil; inner ear malformation;