Objective: The COVID pandemic has affected Colombia with a high number of cases and deceases; however, no studies have been published regarding pediatric population. An epidemiologic analysis of the nationwide COVID register, therefore, is necessary to outline and describe the impact in such population. Methods: A retrospective analysis was made of the characteristics of a cohort of 5062 patients <18 years of age, until June 16, 2020, reported at the National Institute of Health—INS (https://www.ins.gov.co/News./Pages/Coronavirus.aspx), through the national public access database, with all subjects confirmed with COVID-19 or severe acute respiratory syndrome-CoV-2. Results: Reviewed on June 16, 2020, a total of 54,971 confirmed cases were reported nationwide for COVID-19, of which 5062 (9.2%) are cases in patients under 18 years of age. There was a statistically significant difference between groups; age was statistically significantly higher in the asymptomatic, compared with: deceased, severe and moderate cases; moreover, age was statistically significantly higher in the mild, compared with: deceased, severe and moderate. Statistically significant difference determined with one-way ANOVA was found between groups (F = 16.08, P < 0.001). Post hoc analysis reveals significant differences between groups, the age of patients at home (9.39 years) and those recovered (9.3 years) being significantly higher than those in intensive care unit (4.9 years), in hospital (6.1 years), or than the deceased (2.9 years). Conclusion: The results of this study show that, at the nationwide level, patients in more severe states (deceased, severe and moderate), are significantly younger than those in the milder state (asymptomatic and mild).

Introduction Late infantile neuronal ceroid lipofuscinosis is an autosomal recessive disease caused by mutations in the CLN2/ TPP1 gene, with secondary enzyme deficiency. In classical phenotypes, initial symptoms include seizures and delayed language development between 2 and 4 years of age. This article describes the presentation of CLN2 disease in a cohort of Colombian patients, as well as the impact of treatment on the course and progression of the disease. Methods Case series report of 8 patients with a confirmed diagnosis of neuronal ceroid lipofuscinosis treated with cerliponase alfa who remained on clinical and paraclinical follow-up for up to 24 months before and after treatment. Results An atypical phenotype, associated with initial symptoms and late diagnosis, was present in 5/8 patients. The most frequent symptoms were seizures and developmental delay, with age of onset at 24 months (classical phenotype) and 48 months (atypical phenotype). A novel mutation (c.1438G > A) was found in two siblings. All of the patients received cerliponase alfa, and there were no serious adverse events. No decline in the clinical status greater than 2 points on Hamburg, Weill Cornell and CNL2 clinical assessment scale was observed during follow-up after treatment initiation. Conclusion This is the first case series reported for neuronal ceroid lipofuscinosis patients in Colombia. In contrast with other reports, the majority of cases reported here displayed an atypical phenotype. Our study highlights the importance of early diagnosis and timely initiation of therapy, which is a feasible therapy, well tolerated by patients and accepted by caregivers in this country, generating a positive impact in the quality of life of CLN2 patients and on disease outcome.

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To the Editors:We read with great interest the letter by Cabassa Miskimen et al. regarding the natural history in ceroid lipofuscinosis type 2 (CLN2) and supporting newborn screening. We agree with the authors that the diagnosis must occur as early as possible in CLN2, because the progression is rapid and severe, the diagnostic odyssey is long, 1 and a delayed diagnosis could potentially hinder treatment. Studies in South America, specifically in Colombia, 2 reveal that unlike the phenotype described in Cabassa Miskimen et al.'s letter (median age at first seizure = 3 years), we have a high incidence of patients with an atypical phenotype that was overlooked until recently, and who develop symptoms later (mean age at first seizure = 7.26 years). 3 Thus, the clinical picture is heterogeneous, and there is a great number of atypical cases, which extend the time to diagnosis. Therefore, the benefits of newborn screening in ultrarare diseases are clear; early detection of these conditions can lead to early treatment and improved outcomes, and can even be lifesaving.However, debate can arise, as there are some potential drawbacks to consider, such as the possibility of false positives, which can cause unnecessary anxiety and additional testing. 4 In the case of Krabbe disease, screening was performed, and data published in 2010 found 25 positive results, with ultimately only two patients affected. 5 Although feasibility was demonstrated, and those two children received treatment, 23 were false positives.Several studies and techniques have been published as reported by Cabassa Miskimen et al.; however, the diagnostic yield is not clearly stated. A study of enzymatic analysis in dried blood spot reported an overall 100% sensitivity, 95.2% specificity, and 97.6% diagnostic accuracy for many lysosomal diseases. 6 However, the analysis in experimental studies has not included CLN2 patients younger than 2 years, which is important, as the enzyme development is determined by age and reaches adult values at 2 years. 7 Therefore, the naturally occurring low levels might affect the diagnostic yield at birth. As an extreme scenario, if only one disease (CLN2) were screened, in the case of Colombia with >600 000 live births per year, assuming 95% specificity and an incidence of 1:100 000, approximately six true