Temporal lobe epilepsy and social cognition assessment in a case of Urbach-Wiethe disease | [Epilessia temporale e cognizione sociale in una paziente affetta da malattia di Urbach-Wiethe]

We describe anatomo-electro-clinical features of temporal lobe epilepsy and social cognition skills in a 38 years old woman affected by Urbach-Wiethe disease. Patient's clinical history had typical features beginning in early infancy with low-pitched cry and hoarseness, due to vocal cords thickening, associated with cutaneous scar-like lesions and moniliform blepharosis. At age 13 genetic diagnosis was obtained finding mutation in extracellular matrix protein 1 gene. Since 8 years of age temporal-lobe seizures occurred. The patient underwent long-term video-EEG showing interictal slight bi-temporal theta rhythm and ictal EEG revealing rhythmic theta sequence on right temporal region during a subjective episode, without impairment of consciousness. Neuroimaging demonstrated bilateral comma-shaped calcifications involving amygdala, with mild abnormal signal in surrounding parenchyma. Social cognition assessment revealed only moderate deficit in recognition of facial expression of fear. Characteristic selective bilateral amygdala calcifications, frequently observed in Urbach-Wiethe disease, served as a model to prove the critical role of human amygdala in facial emotion recognition. Moderate and selective fear recognition deficit in our patient confirms the neuropsychological variability observed in these patients, probably related to damage timing.