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Review
. 2013 Winter;7(1):1-8.

NCL Disorders: Frequent Causes of Childhood Dementia

Angela Schulz  1 , Alfried Kohlschütter  1
Affiliations
Review

NCL Disorders: Frequent Causes of Childhood Dementia

Angela Schulz et al. Iran J Child Neurol. 2013 Winter.

Abstract

Dementia in children or young adults is most frequently caused by neuronal ceroidlipofuscinoses (NCL), a group of incurable lysosomal storage disorders linked by the accumulation of a characteristic intracellular storage material and progressive clinical deterioration, usually in combination with visual loss, epilepsy, and motor decline. The clinical characteristics can vary and the age at disease onset ranges from birth to over 30 years. Diagnosis of an NCL is difficult because of genetic heterogeneity with14 NCL forms (CLN1-CLN14) identified and a high phenotype variability. A new classification of the disorders is based on the affected gene and the age at disease onset and allows a precise and practicable delineation of every NCL disease. We present a clear diagnostic algorithm to identify each NCL form. A precise diagnosis is essential for genetic counseling of affected families and for optimizing palliative care. As patient management profits from recognizing characteristic complications, care supported by a specialized team of NCL clinicians is recommended. The development of curative therapies remains difficult as the underlying pathophysiological mechanism remains unclear for all NCL forms.

Keywords: Causes; Childhood; Dementia; NCL.

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Figures

Fig 1
Fig 1
Electroencephalogramm of a 5-year-old patient with CLN2 disease, late infantile, recorded under slow (1/sec) photic stimulation. Spikes over the occipital areas correspond to light flashes and illustrate increased neuronal excitability during this stage of the disease
Fig 2
Fig 2
Magnetic resonance tomograms, T2-weighted, of a 5½-year-old child with CLN2 disease, late infantile. Cerebral and cerebellar atrophy is evident
Fig 3
Fig 3
Fundoscopic appearance of the retina of a patient with CLN3 disease, juvenile. Irregular pigment distribution and thin blood vessels are visible
Fig 4
Fig 4
Vacuoles in the cytoplasm of a peripheral blood lymphocyte from a patient with CLN3 disease, juvenile, routine blood smear
See this image and copyright information in PMC

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