by Alexander Kurz

General outline

The neuronal ceroid lipofuscinoses (NCL) are a group of autosomal recessive encephalopathies, which usually occur in children.

Infantile (Santavuori-Haltia-Hagberg disease, late infantile (Jansky-Bielschowsky disease), juvenile (Spielmeyer-Vogt-Sjögren disease) and adult variants (Kufs-Hallervorden disease) may be distinguished.

Synonyms

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 infantile variant of NCL (Santavuori-Haltia-Hagberg disease) is caused by mutations in the CLN1-gene on chromosome 1 (1p32).

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).

Frequency

The incidence is estimated at 1: 12.500 in Finland.

Diagnostic procedures

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.

Available services

Neurology and pediatrics departments.

References

• S B Coker: The diagnosis of childhood neurodegenerative disorders presenting as dementia in adults. Neurology 41: 794-798, 1991
• G Dubois, J M Mussini, M Auclair: Adult sphigomyelinase deficienty: report of two patients who initially presented with psychiatric disorder. Neurology 40: 132-136, 1990
• J K Fink, M R Filling-Katz, J Sokol: Clinical spectrum of Nieman-Pick disease type C. Neurology 39: 1040-1049, 1989
• M Haltia: The neuronal ceroid lipofuscinoses. J Neuropathol Exp Neurol 62: 1-13, 2003