Neuronal ceroid lipofuscinoses (NCL)
by Alexander Kurz
Infantile (Santavuori-Haltia-Hagberg disease, late infantile (Jansky-Bielschowsky disease), juvenile (Spielmeyer-Vogt-Sjögren disease) and adult variants (Kufs-Hallervorden disease) may be distinguished.
Batten disease, Kuf disease
Symtoms and course
NCL are characterised by psychomotor deterioriation, visual failure, and the accumulation of autofluorescent lipopigment in neurons and other cell types.
In the adult form of NCL initial symptoms may occur in the third year of life. Clinical features include mental retardation and behavoural distubance, which may be accompanied by extrapyramidal symptoms (facial dyskinesia) and myoclonus epilepsy.
Causes and risk factors
The late infantile form (Jansky-Bielschowsky disease) is caused by mutations in the CLN2 gene on chromosome 11 (11p15 and 15q21-23). The adult variant (Kufs-Hallervorden disease) is caused by mutations on chromosome 13 (13q21.1-q32).
The incidence is estimated at 1: 12.500 in Finland.
The cranial CT may be normal despite significant neurological symptoms. The diagnosis can be confirmed by the demonstration of an impaired ability of cultured skin fibroblasts to esterify exogenous cholesterol or by the finding of elevated levels of sphingomyelin, cholesterol, or glycolipid in the spleen or liver. Bone marrow aspiration commonly shows the presence of foam cells.
Care and treatment
There is no effective treatment.
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Last Updated: vendredi 09 octobre 2009