The First Neural Ceroid Lipofuscinosis Type 2 Case in Ecuador: A Case Report

Abstract

Neuronal ceroid lipofuscinosis type 2 is a neurodegenerative disease of autosomal recessive inheritance that produces an accumulation of ceroid lipofuscin in the brain and retina. The late infantile phenotype is characterized by rapid psychomotor deterioration and seizures. It has a prevalence of 0.1 to 7 per 100,000 live newborns worldwide. In this case, a male patient presented from 2 years 9 months of age, neurodevelopmental delay with regression, ataxic gait and language impairment; initially diagnosed as inborn error of metabolism; After different studies, the definitive diagnosis of type 2 Neural Ceroid Lipofuscinosis was established. Objectives. Report the only confirmed case in Ecuador demonstrating the importance of early diagnosis to prioritize timely treatment that will improve the quality of life of the patient. The study of the first case of Neural Ceroid Lipofuscinosis in Ecuador is reported, through the collection of qualitative-quantitative data of the clinical picture, evolution of the disease, complementary studies including biochemical and genetic analysis for diagnosis. The patient presented an initial picture of seizures without apparent pathology, with psychomotor problems, ataxic gait and language impairment. The enzymatic study and the clinic led to a possible diagnosis of Neuronal Ceroid Lipofuscinosis type 2, finally confirmed by the molecular analysis of the TPP1 gene. Cerliponase alfa is the only drug accepted to slow the progress of the disease, which was approved in 2017 in the United States, in Ecuador it is a drug that does not have access or coverage in the Ministry of Public Health. LCN2 is a rare disease, however, the most common within the lipofuscinosis. Therefore, a knowledge of them is necessary for an early diagnosis and thus improve life expectancy.