Metabolic defect: palmitoyl-protein thioesterase deficiency Other cholesterol degradation/transport diseases: neuronal ceroid lipofuscinosis: type II, type III, type IV

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Progressive accumulation of lipofuscins (lipopigments) in cells of the brain and other tissues. Atrophy of both grey and white matter with accumulation in both neural and non-neural elements. May be a metabolic disorder involving the intracellular processing and turnover of lysosomes and their membranes as lipopigments accumulate in lysosomes and dolichol levels are elevated (an important constituent of lysosomal membranes).

Retinitis pigmentosa		Retinitis pigmentosa		Muscular Atrophy

Image Credits: Retinitis pigmentosa courtesy of John A. Moran Eye Center, University of Utah.

Deposition of lipopigments in rods and cones leads to mental deterioration, seizures, retinal blindness, and abnormal electroretinogram. With the infantile form:

Onset is from 9 to 19 months of age

Rapid, progressive mental deterioration

Death generally occurs between 8 and 11 years of age

Inheritance pattern:^[2] autosomal recessive

Incidence: 1 in 25,000 (for types I, II, III, and IV together)^[3]

Diagnosis: electron microscopy to investigate storage materials; enzyme assay; mutation analysis; prenatal diagnosis available ^[3]

Conditions with similar presentations: Tay-Sachs disease, Krabbé disease, Canavan disease, Retts syndrome, metachromatic leukodystrophy, Niemann-Pick disease, Leigh syndrome

Management: no disease-specific treatment available

Other medical care: symptom management

Initial:

Myoclonic seizures

Developmental delay

Later:

Deterioration of motor abilities and intelligence

Progressive dementia to vegetative state

Cerebellar ataxia, hyperkinesia

Microcephaly, hypotonia

Generalized seizures

Cerebellar ataxia, hyperkinesia, hypotonia

Microcephaly

Initial:

Visual loss

Later:

Optic atrophy; blind by 2-3 years of age

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1. Wisniewski, Krystyna E. MD, Ph.D. “Neuronal Ceroid-Lipofuscinoses.” www.genetests.org. Updated 27 January 2004.

2. www.ninds.nih.gov/health_and_medical/pubs/batten_disease.htm

3. www.pitt.edu/AFShome/g/e/geneorb/public/html/courses/lyso_trials/ncl.html