Familial case of a rare disease, thiamine-biotin dependent basal ganglia disease

Abstract

Thiamn-biotin dependent basal ganglia disease is a rare inherited disorder. The earliest possible diagnosis plays a crucial role in prevention of death or brain damage due to the severity of the disease. Neonatal screening is not adequate because of the extreme rarity of this disease. The demonstrated familial record showcases the need for selective screening in cases of a burdened familial anamneses in patients with undifferentiated encephalitic crises, including undifferentiated mitochondrial encephalopathies, and confirms the importance of the earliest possible start of metabolic therapy with thiamine and biotin in order to reaching the satisfactory compliance from the family. The severe importance of regular dispensary observation and testing coupled with the timely correction of treatment in such patients is shown as well.