Hipoglicemia, hepatomegalia y déficit pondoestatural: expresión clínica de glucogenosis Hypoglycemia, hepatomegaly and pondo-statural deficit: clinical expression of glycogenosis

Abstract

Glycogenosis are a set of inborn errors of glycogen metabolism secondary to assignments that alter enzymes involved in its synthesis or degradation, which causes its deposit mainly in the liver and muscle. They are classified into liver, muscle or mixed glycogenosis, which encompass 15 different types. Hepatic glycogenosis is characterized by fasting hypoglycemia and hepatomegaly, and muscle is manifested by cramps, exercise intolerance, hypotonia, fatigue, and elevated creatine kinase. Diagnosis is based on clinical suspicion and complementary tests. Therapeutic management seeks to avoid hypoglycemia, prevent complications and achieve normal growth. The reports on these diseases are cases, especially in Venezuela. We present the case of a nine-month-old infant with hepatomegaly, weight-height deficit, abdominal distension, hypoglycemia, hypertriglyceridemia, hypercholesterolemia, and increased liver enzymes. Ultrasound revealed severe diffuse hepatomegaly, liver biopsy with results compatible with glycogen storage disease. There is no molecular diagnosis, due to lack of financial resources. Nutritional treatment with frequent meals and raw corn starch was established, with good adherence and recovery of nutritional status. Conclusion: The pediatrician must pay attention to the manifestations that accompany hypoglycemia and hepatomegaly, leading the patient to specialized instances to achieve a correct diagnosis, timely treatment and early detection of possible complications, with emphasis on the joint work of the parents and the multidisciplinary team to improve the quality of life of the patient.Las glucogenosis son un conjunto de errores innatos del metabolismo del glucógeno secundario a mutaciones que alteran enzimas que intervienen en su síntesis o degradación, lo que ocasiona su depósito principalmente en hígado y músculo. Se clasifican en glucogenosis hepáticas, musculares o mixtas, que abarcan 15 tipos distintos. Las glucogenosis hepáticas se caracterizan por hipoglicemia en ayunas y hepatomegalia, y las musculares se manifiestan por calambres, intolerancia al ejercicio, hipotonía, fatiga y elevación de la creatinquinasa. El diagnóstico se basa en la sospecha clínica y pruebas complementarias. El manejo terapéutico persigue evitar la hipoglicemia, prevenir complicaciones y lograr un crecimiento normal. Los reportes sobre estas enfermedades son escasos, especialmente en Venezuela. Se presenta el caso de una lactante de  nueve meses de edad con hepatomegalia, déficit pondoestatural, distensión abdominal, hipoglicemia, hipertrigliceridemia, hipercolesterolemia y aumento de enzimas hepáticas. El ultrasonido evidenció hepatomegalia difusa severa, biopsia  hepática con hallazgos compatibles con enfermedad de depósito tipo Glucogenosis. No hay diagnóstico molecular, por carecer de recursos económicos. Se instauró tratamiento nutricional con comidas frecuentes y almidón crudo de maíz, con buena adherencia y  recuperación del estado nutricional. Conclusión: el pediatra debe poner atención a las manifestaciones que acompañan a la hipoglicemia y la hepatomegalia, conduciendo al paciente a instancias especializadas para lograr un diagnóstico correcto, tratamiento oportuno y detección precoz de posibles complicaciones, con énfasis del trabajo en conjunto de los padres y el equipo multidisciplinario para mejorar la calidad de vida del paciente. ABSTRACT:Glycogenosis are a set of inborn errors of glycogen metabolism secondary to assignments that alter enzymes involved in its synthesis or degradation, which causes its deposit mainly in the liver and muscle. They are classified into liver, muscle or mixed glycogenosis, which encompass 15 different types. Hepatic glycogenosis is characterized by fasting hypoglycemia and hepatomegaly, and muscle is manifested by cramps, exercise intolerance, hypotonia, fatigue, and elevated creatine kinase. Diagnosis is based on clinical suspicion and complementary tests. Therapeutic management seeks to avoid hypoglycemia, prevent complications and achieve normal growth. The reports on these diseases are cases, especially in Venezuela. We present the case of a nine-month-old infant with hepatomegaly, weight-height deficit, abdominal distension, hypoglycemia, hypertriglyceridemia, hypercholesterolemia, and increased liver enzymes. Ultrasound revealed severe diffuse hepatomegaly, liver biopsy with results compatible with glycogen storage disease. There is no molecular diagnosis, due to lack of financial resources. Nutritional treatment with frequent meals and raw corn starch was established, with good adherence and recovery of nutritional status. Conclusion: The pediatrician must pay attention to the manifestations that accompany hypoglycemia and hepatomegaly, leading the patient to specialized instances to achieve a correct diagnosis, timely treatment and early detection of possible complications, with emphasis on the joint work of the parents and the multidisciplinary team to improve the quality of life of the patient.DOI:https://doi.org/10.53766/GICOS/2023.08.02.0