Browsing by Author "Gejman Enríquez, Roger"
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- ItemCarnitine palmitoyltransferase type 2 deficiency: novel mutation in a Native South American family with whole-body muscle magnetic resonance imaging findings: two case reports(2018) Avila Smirnow, Daniela; Beytía Reyes, María de Los Ángeles; Contreras Olea, Oscar; Gejman Enríquez, Roger; Escobar Henríquez, Raúl; Förster Mujica, Jorge.; Boutron, Audrey.; Caicedo Feijoo, Alfredo.Abstract Background The myopathic form of carnitine palmitoyltransferase type II deficiency is an inherited autosomal recessive metabolic myopathy usually starting in childhood. Most reports have been on European and Japanese populations, and no Native South American patients have been reported to date. The p.Ser113Leu mutation is the most frequent in the European population. Only lower-leg magnetic resonance imaging findings have been reported, with gluteus maximus involvement in one case and normal imaging in other patients. Case presentation Two Native South American siblings, a boy and a girl, presented to our neuromuscular clinic with recurrent rhabdomyolysis associated with transient muscle weakness after prolonged exercise. During episodes, their creatine kinase concentrations were markedly increased, up to 148,000 (1.48 × 105) IU/L in the boy and 18,000 (1.8 × 104) IU/L in the girl. The results of electroneuromyography and histopathology suggested a nonspecific myopathy. CPT2 gene sequencing showed two heterozygous mutations: the p.Ser113Leu variant and a novel one (predicted to be deleterious by in silico analysis), the p.Ser373Pro variant. The patients’ parents were asymptomatic carriers. Whole-body magnetic resonance imaging showed mild selective involvement in the thoracic extensors and pelvic girdle in both siblings, and in the thighs and lower legs in one of them. Dietary and bezafibrate treatment was started, and symptomatic relief was observed. Conclusions To the best of our knowledge, this is the first reported Native South American family with a CPT2 deficiency carrying a novel mutation and particular features visualized by whole-body magnetic resonance imaging.
- ItemDuplicación esofágica. Caso clínico(2010) Zuniga, S.; Skorin, I.; Gejman Enríquez, RogerSe presenta el caso de una lactante de 11 meses con antecedentes de reflujo gastroesofágico y hernia hiatal que ingresa electivamente a la Sección de Cirugía Pediátrica, con el objetivo de realizar una fundoplicatura de Nissen laparoscópica. En el intraop
- ItemEarly onset neutral lipid storage disease with myopathy presenting as congenital hypotonia and hepatomegaly(2021) Avila Smirnow, Daniela; Durán Saavedra, Gloria Patricia; Ovalle Besa, P.; Gejman Enríquez, Roger
- ItemEctopic pituitary adenoma of the TSH-secreting sphenoidal sinus with excellent response to somatostatin analogs. Theory of the embryogenesis and literature review from a clinical case(2020) Ortiz, E; Peldoza, M; Monnier, E; Gejman Enríquez, Roger; Henriquez, M; Barra, MI; Gayoso, R; Sapunar, J; Villaseca, M; Guzmán, P
- ItemHeteroplasmia de la mutación del ADN mitocondrial m.3243A>G en la diabetes y sordera de herencia materna(2013) Cataldo Bascuñan, Luis Rodrigo; Olmos Coelho, Pablo Roberto; Smalley Meylan, Susan Valerie; Díez, Alberto; Parada Daza, Alejandra; Gejman Enríquez, Roger; Fadic Ruiz, Ricardo Julio Nicolás; Santos Martín, José Luis
- ItemHypophysitis and retroperitoneal fibrosis associated with autoimmune polyglandular syndrome and IgG4-related disease. Report of one case(2018) Guarda Vega, Francisco; Méndez Olivieri, Gonzalo Patricio; Espinosa, R.; Gejman Enríquez, Roger; Vega, J.
- ItemMUSCLE MAGNETIC RESONANCE IMAGING AND HISTOPATHOLOGY IN ACTA1-RELATED CONGENITAL NEMALINE MYOPATHY(2014) Castiglioni, Claudia; Cassandrini, Denis; Fattori, Fabiana; Bellacchio, Emanuele; D'Amico, Adele; Alvarez, Karin; Gejman Enríquez, Roger; Diaz, Jorge; Santorelli, Filippo M.; Romero, Norma B.; Bertini, Enrico; Bevilacqua, Jorge A.
- ItemNeuropatía ciática en pediatría : presentación clínica y seguimiento a largo plazo(2020) Jaque Almendras, C.; Escobar Henríquez, Raúl; Caicedo Feijoo, A.; Beytía Reyes, María de Los Ángeles; Correa Pérez, S.; Gejman Enríquez, Roger; Cruz, Juan Pablo; Contreras Olea, Oscar; Avila Smirnow, Daniela
- ItemPólipo endometrial, una causa infrecuente de sangrado genital anormal en la adolescencia(2014) Ralph T., C.; Zajer A., C.; De Petris V., V.; Gejman Enríquez, Roger; Cuello F., MauricioAntecedentes: El sangrado genital anormal es una causa frecuente de consulta en la adolescencia. En este período, la principal causa de sangrado es la metrorragia asociada a ciclos anovulatorios producto de la inmadurez del eje hipotálamo-hipofisario-gonadal. Dentro de las causas infrecuentes de sangrado genital anormal en ese período está el pólipo endometrial. Caso clínico: Presentamos el caso de una niña de 13 años cuya causa de sangrado correspondió a un pólipo endometrial, sospechado por ultrasonografía, resecado mediante histeroscopia y confirmado mediante estudio histológico. Discusión: Pese a su baja incidencia, los pólipos endometriales deben ser considerados como parte del diagnóstico diferencial en adolescentes que consultan por trastorno menstrual, particularmente en aquellos casos sin respuesta a la terapia hormonal y donde la ultrasonografía muestra engrosamiento endometrial.
- ItemPrognostic value of granular pattern of growth hormone secreting tumors(2019) Valenzuela Pino, Felipe Patricio; Villanueva Garín, Pablo Rodrigo; Rojas, D.; Gejman Enríquez, Roger; Huete, Isidro; Zunino, R.; Díaz, R. E.; Wohllk, N.; Tissera, C.; Carrasco, C. A.
- ItemTumor de las células de granulosa: pubertad precoz en lactante menor de 1 año. Caso clínico. Granulosa cell ovarian tumor: precocious puberty in infant less than 1 year of age. Case report(2017) Lacourt, Patricia; Soto, Julio; Rumié Carmi, Hana K.; Gejman Enríquez, Roger; Pattillo Silva, Juan Carlos; García B., Cristián; García Bruce, Hernán