Early behavioural symptoms in a case of adult onset leukodystrophy- a case report

Leukodystrophies are rare genetic disorders characterized by progressive damage to the white matter of the brain, manifesting with neurological and motor symptoms. In adults, the onset of leukodystrophy symptoms is typically delayed, with the disease being frequently misdiagnosed due to its broad symptomatology. This case report describes a unique presentation of early behavioral symptoms in an adult patient with leukodystrophy, emphasizing the importance of recognizing neuropsychiatric changes as potential early indicators. The patient, a previously healthy adult, presented initially with depressive and irritable behavior since 7 years, treated initially with antidepressants showing minimal improvement and later developed cognitive symptoms along with 1 manic episode 4 years back. Neuro-imaging and genetic testing ultimately confirmed the diagnosis, showing the utility of advanced diagnostic tools in cases of atypical leukodystrophy presentation. This case highlights the need for increased awareness of behavioral changes as possible early signs of leukodystrophy, which may facilitate earlier intervention and improved patient outcomes