Condrodisplasia Punctata and Foramen Magnum Stenosis in an Infant

Condrodisplasia punctata is a peroxisomal disease characterized with punctate calsifications in epiphysial cartilage, symmetrical shrinking in long bones (in rhizomelic type), typical dysmorphic face, limitation of movement in joints, bilateral cataract, seizures, severe respiratory problems, egzema, physicomotor retardation and severe failure to thrive. These cases are uncommon and can be diagnosed with clinical and laboratory findings [1, 2]. Patients are presented with many neurological complications such as facial paralysis, flaccid paraparesis and spastic quadriplegia [2]. However, only one case is reported so far in literature with foramen magnum stenosis