Glycogen storage disease : report of two cases in the city of Cartagena
| dc.contributor.author | Alvear Sedán, Ciro César | spa |
| dc.contributor.author | Barboza, Miriam | |
| dc.contributor.author | Rodríguez, Zeudy K. | |
| dc.date.accessioned | 2011-11-28T14:32:28Z | |
| dc.date.available | 2011-11-28T14:32:28Z | |
| dc.date.issued | 2011-11-28 | |
| dc.description.abstract | Objective: to report two cases of children with type Ia glycogen storage disease compatible with Von Gierke disease, suspected in the presence of findings such as hepatomegaly, nephromegaly, hypoglycemia, and stunted growth. Method: Presentation of the clinical records of two patients referred to the diagnostic unit of innate errors of metabolism of the Faculty of Medicine in Universidad de Cartagena. Results: The first case reported was a child who debuted with acute cyanosis without widespread neurological deficit when he was eleven months old, followed by hepatomegaly at two years of age. At 4 years of age, symptoms reappeared with similar characteristics: hypoglycemia, growth failure, and persistent hepatomegaly detected on physical examination. With the precedent that an older brother that presented similar symptoms was suspected of glycogen storage disease, a biopsy was performed and confirmed liver glycogen storage with normal structure. The patient’s treatment was modification of dietary habits (small, frequent feedings during the day) and cornstarch. The second event was the older brother who consulted for the first time when he was 18 months old due to prolonged diarrhea. Hepatomegaly was documented by ultrasound study without kidney compromise and no hypoglycemia was found. Recommendations: It is necessary for the entire health team to be trained to detect rare diseases such as glycogen storage disease. If they make early diagnoses and establish support groups for interdisciplinary management of such diseases, they may change the prognosis and quality of life of these children. Objetivo: Comunicar dos casos de niños con glucogenosis compatibles con el tipo Ia o enfermedad de Von Gierke, que se debe sospechar ante la presencia de hallazgos como hepatomegalia, nefromegalia, hipoglicemia y talla baja. Método: Presentación de las historias clínicas de dos pacientes remitidos a la unidad de diagnóstico de errores innatos del metabolismo de la Facultad de Medicina de la Universidad de Cartagena. Resultados: El primer caso es un niño que a los once meses de edad hizo crisis de cianosis generalizada sin déficit neurológico, y a los dos años tuvo hepatomegalia. A los cuatro años vuelve a presentar el mismo cuadro con iguales características más hipoglicemia y al examen físico talla baja y persistencia de la hepatomegalia. Con el antecedente de un hermano mayor que mostró sintomatología similar se sospechó glucogenosis; se tomó una biopsia de hígado y se confirmó depósito de glucógeno hepático de estructura normal. Se manejó con dieta fraccionada y fécula de maíz. El segundo caso se trata del hermano mayor quien consultó por primera vez a los 18 meses de edad con diarrea prolongada. Se documentó hepatomegalia por estudio ecográfico sin compromiso renal y nunca cursó con hipoglicemia. Recomendaciones: Es necesario que todo el equipo de salud esté capacitado para descubrir enfermedades raras como la glucogenosis. Esto puede cambiar el pronóstico y calidad de vida de los niños si se hace un diagnóstico precoz y se establecen grupos de apoyo interdisciplinarios en el manejo de este grupo de enfermedades. | spa |
| dc.identifier.uri | https://hdl.handle.net/10893/3210 | |
| dc.language.iso | eng | spa |
| dc.rights.accessrights | info:eu-repo/semantics/openAccess | spa |
| dc.subject | Hepatomegaly | spa |
| dc.subject | Nephromegaly | spa |
| dc.subject | Hypoglycemia | spa |
| dc.subject | Stunted growth | spa |
| dc.subject | Metabolic screening | spa |
| dc.subject | Glucose-6-Phosphatase | spa |
| dc.subject | Diet | spa |
| dc.subject | Hepatomegalia | spa |
| dc.subject | Nefromegalia | spa |
| dc.subject | Hipoglicemia | spa |
| dc.subject | Talla baja | spa |
| dc.subject | Retardo en el crecimiento | spa |
| dc.subject | Tamizaje metabólico | spa |
| dc.subject | Glucosa 6 fosfatasa | spa |
| dc.subject | Dieta | spa |
| dc.title | Glycogen storage disease : report of two cases in the city of Cartagena | spa |
| dc.title.alternative | Enfermedades de depósito de glucógeno: informe de dos casos en la ciudad de Cartagena | spa |
| dc.type | Artículo de revista | spa |
| dspace.entity.type | Publication |