First experience with a supercharged pedicled jejunal interposition for esophageal replacement after caustic ingestion in a middle-income Latin American country.

Caustic or corrosive substance ingestion that results in severe esophageal and gastric lacerations frequently requires surgical management. The most common sequelae after an upper gastrointestinal tract caustic injury include non-responding luminal strictures, which are subject to esophageal replacement. Late corrective surgery may include esophagectomy with gastric pull-up and jejunal or colonic interpositions. Although long-segment esophageal reconstruction with jejunum is technically feasible and has demonstrated good outcomes, the complexity of the surgery has precluded the widespread use of this procedure in low- and middle-income countries. This document summarizes the most relevant aspects of caustic ingestion surgical management and describes the first Latin American experience in the reconstruction of an esophageal-gastric caustic injury using a pedicled jejunal interposition, as a viable and functional option in mid- and lower-income countries with well-established Thoracic Surgery departments and microsurgery access.

Neuronal Ceroid Lipofuscinosis Type 6 (CLN6) clinical findings and molecular diagnosis: Costa Rica's experience.

BACKGROUND: Commonly known as Batten disease, the neuronal ceroid lipofuscinoses (NCLs) are a genetically heterogeneous group of rare pediatric lysosomal storage disorders characterized by the intracellular accumulation of autofluorescent material (known as lipofuscin), progressive neurodegeneration, and neurological symptoms. In 2002, a disease-causing NCL mutation in the CLN6 gene was identified (c.214G > T) in the Costa Rican population, but the frequency of this mutation among local Batten disease patients remains incompletely characterized, as do clinical and demographic attributes for this rare patient population. OBJECTIVE: To describe the main sociodemographic and clinical characteristics of patients with a clinical diagnosis for Batten Disease treated at the National Children's Hospital in Costa Rica and to characterize via molecular testing their causative mutations. METHODS: DNA extracted from buccal swabs was used for CLN6 gene sequencing. Participants' sociodemographic and clinical characteristics were also obtained from their medical records. RESULTS: Nine patients with a clinical diagnosis of Batten disease were identified. Genetic sequencing determined the presence of the previously described Costa Rican homozygous mutation in 8 of 9 cases. One patient did not have mutations in the CLN6 gene. In all cases where the Costa Rican CLN6 mutation was present, it was accompanied by a substitution in intron 2. Patients were born in 4 of the 7 Costa Rican provinces, with an average onset of symptoms close to 4 years of age. No parental consanguinity was present in pedigrees. Initial clinical manifestations varied between patients but generally included: gait disturbances, language problems, visual impairment, seizures and psychomotor regression. Cortical and cerebellar atrophy was a constant finding when neuroimaging was performed. Seizure medication was a common element of treatment regimens. CONCLUSIONS: This investigation supports that the previously characterized c.214G > T mutation is the most common causative NCL mutation in the Costa Rican population. This mutation is geographically widespread among Costa Rican NCL patients and yields a clinical presentation similar to that observed for CLN6 NCL patients in other geographies.