25. A new mutation for asymmetrical inherited neuropathy: The help of ultrasound study in a paediatric diagnostic challenge

Abstract

Paediatric neuromuscular diseases represent a diagnostic challenge often requiring invasive investigations hardly tolerate by children. We describe the case of a young athlet, male,13 years-old, presenting a subacute progressive right pes-cavus and lower limb’s hypometria. This clinical presentation was noted following an increase in height of child and also in correspondence of an accidental crash. Initially his deficit was setted as traumatic but further clinical development proposed again the diagnostic doubt. A neuromuscular-ultrasound(NMUS)-study showed a bilateral involvement of lower limb?s posterior loggias, mainly right, with echogenicity homogeneously increased and preserved architecture. The EMG-study showed a distal asymmetric polyneuropathy, predominant in the Tibial nerve. Similar EMG-results were found in his father. No encephalic-RMI alterations. In his parents, the immunological investigations resulted normal while the genetic ones showed a novel heterozygosis mutation of MFN2 gene. Further NMUS-studies were performed to follow up. This paucisymptomatic, monolateral, late-onset clinical case showed how a preliminary NMUS-study can guide further investigations. A prevalent chronic damage with muscular structure preserved and EMG-detection of asymmetric-neuropathy could exclude a traumatic genesis guiding diagnosis to an inherited asymmetrical neuropathy. The combined morpho-functional evaluation with integrated NMUS-EMG facilitates pediatric neuromuscular diagnosis, improving spatial resolution with limited costs and invasivness.