[Neuronal ceroid lipofuscinosis. An unknown overload disease].
Neuronal ceroid lipofuscinosis comprises a group of lysosomal diseases transmitted by autosomal recessive inheritance. Often unrecognized, this disease should be evoked in children or adolescents with blindness due to retinal pigmentation, dementia and myoclonal seizures. Retinal pigmentation is lacking in adults. The characteristic feature is an accumulation of fluorescent lipopigments deposited within cells, especially neurons. Histology examination gives the diagnosis based on the ultrastructure of skin biopsies and identification of the disease-specific lysosomal inclusions. The disease can also be identified in children by identification of mutations on genes CLN1, CLN3 and CLN5. The pathophysiology of these diseases remains unknown and treatment is limited to symptomatic care.
Echaniz-Laguna
A
A
Service des Maladies du Système nerveux et du Muscle, Hôpital Civil de Strasbourg.
Tranchant
C
C
Boehm
N
N
Warter
J M
JM
D000328:Adult; D002648:Child; D002675:Child, Preschool; D006801:Humans; D007223:Infant; D009472:Neuronal Ceroid-Lipofuscinoses / Q000175:diagnosis / Q000503:physiopathology / Q000628:therapy; D012867:Skin / Q000648:ultrastructure
Les céroïdes-lipofuscinoses neuronales. Une maladie de surcharge méconnue.