Mental Retardation, Enteropathy, Deafness, Neuropathy, Ichthyosis, and Keratodermia (MEDNIK) is an addition to the two well-known inherited disorders of copper metabolism: Menkes disease (MIM 309400) and Wilson’s disease (MIM 277900), which results from mutations in two separate yet relevant copper ATPases showing different tissue involvements (Bull et al. 1993; Chelly 1993). MEDNIK disorder is a rather new addition to inborn errors of copper metabolism that results from mutations to subunits of the AP-1 complex, mainly AP1S1. MEDNIK syndrome was initially reported in a few French-Canadian families sharing common ancestors, showing a range of neurocutaneous presentations; nonetheless, its pathogenesis is not fully understood (Martinelli et al. 2013). Pediatric and neonatal onset of symptoms has been reported in the literature, with some reports indicating detection in later years (Kakhki et al. 2025).