A six month-old female patient, child of non-consanguineous parents with no family history of neurometabolic or neurodegenerative disorders presented to the Developmental Centre because of psychomotor deterioriation, loss of visual contact and peculiar flexion movements of the whole body (present in clusters of 10–20 at a time and especially pronounced at awakening) since last week. Pregnancy, labor, perinatal and neonatal period were uneventful according to the parents; however, the parents’ report of her as have been always slow for what one would have expected for her age. Neurologically she showed the picture of a mild generalised hypertonia with pyramidal tract signs (increased muscle tone and deep tendon reflexes predominantly in the lower extremities, clonus, Babinski's sign, Rossolimo's reflex); she could not grasp, roll, or support weight in her arms (only elbows) and apparently she could not follow any visual stimuli. During the examination, she experienced a cluster of ~25 typical infantile spasms of the flexor type with eye rolling, which ended with a strong cry. The performed EEG demonstrated typical hypsarrythmic pattern and the diagnosis of West syndrome was made. MRI images of the brain (SE, saggital T1-weighted images, TR 500 msec, TE 25 msec) demonstrated absence of the corpus callosum (fig. 1), as well as subependymal heterotopias of the white matter (SE, axial T1-weighted images, TR 500 msec, TE 25 msec; fig. 2). An ophthalmological examination with fundoscopy demonstrated diffuse findings in both eyes (fig. 3). TORCH±S titles and maternal history regarding congenital infections were negative, as was the whole screening for neurometabolic disorders.