Evaluation of neurological findings in patients diagnosed with mucopolysaccharidosis

Objective: The aim of this study was to retrospectively evaluate the neurological findings of 175 patients diagnosed with various types of mucopolysaccharidoses (MPS) who were followed at the Pediatric Neurology and Metabolism Departments of Çukurova University Faculty of Medicine. Materials and Methods: The study was conducted on 175 patients diagnosed with MPS and regularly followed at the outpatient clinic. Patients were classified according to their MPS subtypes, and demographic data, presenting symptoms, ages at diagnosis, anthropometric measurements, neurological findings, psychometric test results, and radiological findings were retrospectively reviewed. Among the neurological findings, the presence of autism, seizures, behavioral disorders, sleep disturbances, hearing loss, and carpal tunnel syndrome were evaluated. Radiological assessments included cerebral white matter lesions, spinal lesions, hydrocephalus, and cervical stenosis/myelopathy. Psychometric evaluations were performed using the Denver Developmental Screening Test, the Stanford-Binet test, and WISC-R, examining the patients' mental and motor development and exploring any differences. Results: Significant findings were identified among different MPS subtypes. Behavioral disorders were observed in 71.4 % of MPS III B patients (p=0.004), and seizures/epilepsy were detected in 53.8 % of these patients. In the MPS VI group, hydrocephalus was found in 22.2 % (p<0.001) and spinal lesions in 83.8 % of the patients (p<0.001). Cervical stenosis/myelopathy was observed in 73.5% of MPS IV A patients (p<0.001) and in 62.2% of MPS VI patients (p=0.034). Conclusion: This study contributes to the identification of clinical and neurological findings specific to different MPS subtypes. Keywords: Mucopolysaccharidoses, subtypes, neurological findings