TY - CHAP M1 - Book, Section TI - Lipofuscinoses, Neuronal Ceroid: Overview A1 - Bissonnette, Bruno A1 - Luginbuehl, Igor A1 - Engelhardt, Thomas PY - 2019 T2 - Syndromes: Rapid Recognition and Perioperative Implications, 2e AB - The neuronal ceroid lipofuscinoses, also known as Batten disease, are a group of neurodegenerative disorders considered the most common of the neurogenetic storage diseases. The prevalence is estimated at 1:12,500 worldwide whereas the frequency is higher in the United States and northern European populations with an occurrence of 1:10,000. It is a group of inherited, neurodegenerative, lysosomal storage disorders characterized by accumulation of lipopigments (lipofuscin) in major organs such as the heart, liver, spleen, and kidneys. This leads to progressive mental and motor deterioration, seizures, and early death. Visual loss is a feature of most forms. The phenotypes have been classified clinically by age of onset, duration, blindness, seizures, and the form that lipofuscin accumulation takes. The list of diagnosis is detailed in Table L-3. SN - PB - McGraw-Hill Education CY - New York, NY Y2 - 2024/03/29 UR - accesspediatrics.mhmedical.com/content.aspx?aid=1164076997 ER -