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Pediatría (Asunción)

On-line version ISSN 1683-9803

Abstract

ORTIZ, Jorge et al. Late-Infantile Neuronal Ceroid Lipofuscinoses (Jansky-Bielschowsky Disease): a Study of a Series of Cases. Pediatr. (Asunción) [online]. 2014, vol.41, n.1, pp.33-44. ISSN 1683-9803.

Introduction: Neuronal ceroid lipofuscinoses is a group of neurodegenerative autosomal recessive genetic disorders caused by storage of lipopigments that is most common in infancy, but that affects children and young adults. Objective: To present a series of 8 clinical cases of patients with late-infantile neuronal ceroid lipofuscinosis. Methodology: We present the clinical cases of 8 patients, whose diagnosis of late-infantile neuronal ceroid lipofuscinosis was made clinically by causation of epileptic crises, chronology of the appearance of visual, motor, and cognitive manifestations, as well as neurodevelopmental regression. Results: Case 1: a 6 year-old boy with progressive loss of vision from age 3 progressing to amaurosis, epilepsy from age 4 years, ataxia and motor and cognitive problems detected at age 5 years, interictal electroencephalogram showing epileptic pattern, and brain MRI showing brain and cerebellum atrophy with basal ganglia unaffected. Cases 2, 3, 4, and 5 show hereditary characteristics, appearing in 2 members of the same family. Case 6, of late-onset, was later classified as type 3, a childhood type, based on analysis of mutations. Case 7: the initial symptom was seizures at age 3 years, with behavior difficulties relating to peers being the complaint that led to consultation with a specialist. Case 8: rapid progression toward overall deterioration. Conclusions: Neuronal ceroid lipofuscinosis should be considered in cases of patients aged 2-4 years who present refractory epilepsy, developmental regression, and affected vision. The presence of myoclonic epilepsy guides the search for a cause and modifies the treatment management. No definitive treatment yet exists for the disease, and management is initially directed at improving quality of life for the patient and his or her family using general and supportive measures.

Keywords : Neuronal ceroid lipofuscinosis; late-infantile neuronal ceroid lipofuscinosis; myoclonic epilepsy; lysosomal storage disease.

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