Neuronal Ceroid Lipofuscinosis (CLN6) First Diagnosed Cases in El Salvador.
Abstract number :
3.101
Submission category :
12. Genetics / 12A. Human Studies
Year :
2025
Submission ID :
163
Source :
www.aesnet.org
Presentation date :
12/8/2025 12:00:00 AM
Published date :
Authors :
Rene Silva, MD – Hospital de Especialidades Nuestra Señora Reina de la Paz, San Miguel, El Salvador San Miguel El Salvador
Rebeca Figueroa, Student – Academia Britanica Cuscatleca
Manuel Vides, MD – Instituto de Neurociencias, Hospital de Diagnostico
Jorge Vidaurre, MD – Nationwide Children's Hospital and The Ohio State University
Presenting Author: Angel Hernandez, MD – Johns Hopkins All Children's Hospital
Rationale: Neuronal Ceroid Lipofuscinosis (NCL) is a group of rare, genetic, neurodegenerative diseases with fatal outcomes. It affects people of all ages from infancy to adulthood. The disease is the result of mutations in a distinct gene. The patients can be normal until the development of motor and cognitive regression, retinopathy, drug-resistant epilepsy (DRE) and shortened life-span. We present the first reported cases of NCL and the first reported cases of subtype CLN6 in El Salvador.
Methods: The history, physical examination, brain MRI, and EEGs of 3 patients from Morazan, El Salvador, were reviewed. There were 2 brothers (8 and 9 years old) and 1 unrelated female (age 8 years). The authors suspected the diagnosis on all 3 patients, and all underwent confirmatory genetic testing.
Results: All 3 patients were from Morazan, located in the northeastern part of El Salvador, close to Honduras. All 3 patients were described by their parents as normal until the onset of unrelenting motor regression at the age of 4 years, followed by cognitive regression and retinopathy, and the onset of DRE by 5 years of age. All 3 patients were described by their parents as initially becoming “clumsy,” falling down frequently, losing the ability to draw and write, loss of eye contact, and all losing the ability to walk within 8 months of symptom onset. All 3 patients developed myoclonus a few months prior to the onset of generalized convulsive seizures. Epilepsy became drug-resistant shortly after onset of seizures. Initial MRI of the brain of all 3 patients was reviewed and reported as normal, but repeat MRI of the brain in all 3 patients showed progressive diffuse cerebral and cerebellar atrophy. EEGs showed slow background with fragmented and generalized spike wave discharges, and photoparoxysmal responses were present in all. Genetic testing of all 3 patients revealed the same CLN6 gene mutation, c.368G >A (p.Gly123Asp) (homozygous) which has been previously reported in Costa Rica. Genetic testing is in process for the family.
Conclusions: To the best of our knowledge, and literature review these are the first reported cases of NCL and the first reported cases of subtype CLN6 in El Salvador. All 3 patients presented with the same CLN6 gene mutation c.368G >A (p.Gly123Asp) (homozygous).
Funding: No funding for this study.
Genetics