Expanding the Phenotypic Spectrum of <i>SLC1A4</i> -Related Spastic Tetraplegia: A Case With Novel Multisystem Features

(p.Arg457Trp). Notably, our patient exhibited novel systemic phenotypic features, including grade 2 finger clubbing, recurrent infections, bilateral hernias, meatal stenosis, and dysmorphic features (high-arched palate, low-set ears, pectus carinatum). Brain MRI demonstrated a diffusely thin corpus callosum, a typical finding consistent with the classic SPATCCM phenotype. These previously unreported systemic features broaden the recognized phenotypic spectrum and underscore the need for genetic testing in suspected cases.