RT Book, Section
A1 Bissonnette, Bruno
A1 Luginbuehl, Igor
A1 Engelhardt, Thomas
SR Print(0)
ID 1164076997
T1 Lipofuscinoses, Neuronal Ceroid: Overview
T2 Syndromes: Rapid Recognition and Perioperative Implications, 2e
YR 2019
FD 2019
PB McGraw-Hill Education
PP New York, NY
SN 9781259861789
LK accessanesthesiology.mhmedical.com/content.aspx?aid=1164076997
RD 2024/04/25
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.