The neuronal ceroid lipofuscinoses (NCLs) are a group of genetic neurodegenerative disorders of the childhood in which there is excessive accumulation of lipofuscin.
The group consists of 1:
- type 1: Santavuori-Haltia disease
- type 2: Jansky-Bielschowsky disease
- type 3: juvenile, Batten-Spielmeyer-Vogt disease
- type 4: Kufs disease
- type 5: Finnish variant late infantile
- type 6: variant late infantile
- type 7: CLN7
- type 8: CLN8
- type 9
- type 10: CLN10 disease
Clinical presentation is heterogeneous as is onset, which renders the diagnosis hard to make. Skin punch biopsy can reveal abnormality typical of the disease 2.
MR brain volumetry has been shown to correlate well with disease progression, more so than current clinical disease scores 3.
Radiographic features are non-specific and include mainly generalized brain atrophy and white matter changes probably induced by Wallerian degeneration and gliosis 2. Brain atrophy can be extreme with end stage disease, associated with diffuse (complete) white matter changes 2. Cerebellar atrophy tends to be significant.
- 1. Mole SE, Williams RE, Goebel HH. Correlations between genotype, ultrastructural morphology and clinical phenotype in the neuronal ceroid lipofuscinoses. Neurogenetics. 2005;6 (3): 107-26. doi:10.1007/s10048-005-0218-3 - Pubmed citation
- 2. Seitz D, Grodd W, Schwab A et-al. MR imaging and localized proton MR spectroscopy in late infantile neuronal ceroid lipofuscinosis. AJNR Am J Neuroradiol. 1998;19 (7): 1373-7. Pubmed citation
- 3. Löbel U, Sedlacik J, Nickel M et-al. Volumetric Description of Brain Atrophy in Neuronal Ceroid Lipofuscinosis 2: Supratentorial Gray Matter Shows Uniform Disease Progression. AJNR Am J Neuroradiol. 2016;37 (10): . doi:10.3174/ajnr.A4816 - Pubmed citation
- 4. Vanhanen SL, Raininko R, Autti T et-al. MRI evaluation of the brain in infantile neuronal ceroid-lipofuscinosis. Part 2: MRI findings in 21 patients. J. Child Neurol. 1996;10 (6): 444-50. Pubmed citation