Deleción Cromosómica 1q44 y su Impacto Multisistémico: A Propósito de un Caso Clínico

Abstract

This study presents a case of terminal deletion in 1q44, associated with alterations in fatty acid metabolism, delayed cognitive development, epilepsy, and hypopituitarism. The influence of a home nursing care program on the patient's treatment is also analyzed. Objective: To describe the nursing care implemented/provided to a minor diagnosed with a chromosomal deletion that shows evidence of a fatty acid metabolic disorder, global neurodevelopmental delay, epilepsy, hypothyroidism, and hypopituitarism, and to evaluate its impact on her quality of life. Methodology: Clinical follow-up was conducted between 2019 and 2024 through a review of medical records and bibliographic analysis. The protocol included nursing interventions aimed at metabolic control, seizure management, neurosensory stimulation, and strengthening family support. Results: Glucose stabilization, a 60% decrease in the frequency of epileptic seizures, improvements in muscle tone, sensory responses, and sleep quality were observed. Likewise, the role of the family as the center of care was strengthened. These benefits were maintained until the patient's death. Conclusion: A comprehensive and palliative approach in the home environment is an effective strategy for improving quality of life and preserving dignity in the treatment of complex genetic diseases, demonstrating the relevance of specialized nursing care in the family setting. Keywords: Microdeletion, metabolism, development, epilepsy, hypopituitarism