Early Psychiatric Manifestations of Lafora Disease: A Case Report

Lafora disease is a rare genetic progressive myoclonic epilepsy characterized by the onset of epileptic seizures and myoclonus during adolescence, followed by a rapid progression toward neurodegeneration. However, an often underrecognized aspect of this condition is the presence of psychiatric manifestations, particularly depressive and psychotic disorders, which may emerge prior to or concurrently with the neurological symptoms. We report the case of a 39-year-old woman with biopsy-confirmed Lafora disease whose psychiatric symptoms preceded the onset of neurological manifestations by several years. Between the ages of 12 and 16 years, she presented with recurrent suicidal behavior, episodes of wandering, severe depressive symptoms, and psychotic manifestations, including auditory and visual hallucinations, persecutory delusions, and behavioral disturbances, initially leading to psychiatric diagnoses and treatment. Neurological symptoms appeared later at the age of 20 years, with visual hallucinations followed by generalized tonic-clonic seizures, progressive myoclonus, and cognitive decline. The diagnosis of Lafora disease was ultimately confirmed by axillary skin biopsy, demonstrating periodic acid-Schiff (PAS)-positive Lafora bodies. This case highlights the importance of a detailed investigation into the early presentation and longitudinal evolution of these psychiatric manifestations in order to distinguish them from primary psychiatric disorders and to consider them as potential clinical clues that may precede the neurological manifestations of Lafora disease. Recognition of these manifestations may facilitate consideration of an earlier diagnosis of Lafora disease and help reduce diagnostic delay in adolescents presenting with atypical psychiatric symptoms. Furthermore, this work stresses the importance of structured interdisciplinary collaboration between neurologists and psychiatrists in the management of progressive myoclonic epilepsies and the need to develop and implement standardized recommendations for psychiatric screening in at-risk adolescents.