A novel variant of Paganini-Miozzo syndrome: a case report

Paganini-Miozzo syndrome (MRXSPM) is a rare neurogenetic disorder that is transmitted by X-linked recessive inheritance. This is the third case reported of this disease in the world with a novel variant. A boy was referred due to the absence of neck holding and hand tremors. The examinations found facial anomalies. The brain magnetic resonance imaging (MRI) showed cerebral atrophy and diffused white matter, and irregularities were seen in his electroencephalogram (EEG). The echocardiography revealed a mid-muscular ventricular septal defect. A whole exome sequencing (WES) analysis revealed a novel variant (c.979C > T; p.Pro327Ser) of uncertain significance in the HS6ST2 gene indicating Paganini-Miozzo syndrome. The current case provides additional evidence that MRXSPM can be associated with various neurological and cardiac complications. It is essential to rule out other causes, such as metabolic and infectious diseases. EEG, MRI and WES analyses can help to make a definitive diagnosis.