Elejalde et al. first described 3 related individuals with seizures, hypotonia, psychomotor retardation and hypopigmented skin. Later in 1999, Duran-McKinster et al. described 7 similar cases and lead to the definition of the disease. Elejalde neuroectodermal melanolysosomal syndrome is characterized by profound neuromuscular disease, seizures and intellectual disability along with silvery hair and hypopigmented skin with easy tanning in sun-exposed areas. Most cases present in first months of life with hypotonia and lack of response to external stimuli, and progress to flaccid or spastic quadriplegia, ataxia, nystagmus, strabismus and seizure within months or years.