Síndrome de Béguez-Steinbrinck-Higashi: un nuevo epónimo para el síndrome de Chediak-Higashi / Béguez-Steinbrinck-Higashi syndrome: a new eponymous for the Chediak-Higashi syndrome

En diciembre de 1943, el Dr. Antonio María Béguez César detalló en el Boletín de la Sociedad Cubana de Pediatría los aspectos clínicos y hematológicos de una rara afección que padecieron tres niños de una familia santiaguera, quienes fallecieron en sus primeros años de vida. No había informes sobre hallazgos similares en la bibliografía médica, por lo cual se consideró la primera descripción de una enfermedad denominada por él como neutropenia crónica maligna familiar con granulaciones atípicas de los leucocitos, que aún hoy suele divulgarse erróneamente como síndrome de Chediak-Higashi y no como síndrome de Béguez-Steinbrinck-Higashi. Esta enfermedad es una inmunodeficiencia primaria causada por mutaciones en el gen regulador de la función lisosomal, capaz de alterar la formación del fagolisosoma en el neutrófilo y determinar la presencia de gránulos secretores gigantes en su interior, asociadas a un predominio de infecciones recurrentes generadas por bacterias piógenas. Aquí se realiza un recuento histórico del descubrimiento de esta entidad y se actualiza su fisiopatología(AU)

On December 1943, Dr. Antonio María Béguez César detailed in the Journal of the Cuban Pediatric Society the clinical and hematologic aspects of a rare disorder suffered by three children from a family in the locality, who expired during the first years of their lives in Santiago de Cuba. At that moment there was no report about similar findings in the medical literature, therefore it is considered the first description of a disease denominated by him as familial malignant chronic neutropenia with atypical granulations of leucocytes, misleadingly revealed as Chediak-Higashi syndrome instead of Béguez-Steinbrinck-Higashi syndrome. This disease consists of a primary immunodeficiency induced by mutations in the regulator gen of the lysosomal function, which is able to alter the formation of phagolysosoma in the neutrophil and determine the presence of giant secretor granules associated with the predominance of recurrent infections provoked by pyogen bacteria. Here, a brief history of it's discovery as well as an updating of it's physiopathology are carried out(AU)

Clinical Characteristics of Severe Neutropenia in Children / 임상소아혈액종양

BACKGROUND: Severe neutropenia is defined as an absolute neutrophil count (ANC) less than 0.5×109/L, which is known to increase the risk of serious bacterial infections. The aim of this study was to investigate characteristics, etiology and differences between transient and chronic severe neutropenia in children.METHODS: 204 children, who were diagnosed with severe neutropenia at the Ajou University Hospital during a 5-year period, were included in the study. Clinical and laboratory features were analyzed. The patients were classified as having transient severe neutropenia (TSN) if recovery occurred within 6 months of diagnosis, and chronic severe neutropenia (CSN) if the neutropenia persisted for 6 months or more.RESULTS: 184 (90.2%) patients with TSN and 20 (9.8%) patients with CSN were identified. Most of the TSN occurred in patients less than 2 year of age (75.5%) and rarely occurred in patients 5 years or older (5.4%). The most common cause of TSN was infection-related neutropenia (82.6%), and most of the associated infections were respiratory infections (44.6%). Compared to TSN, CSN patients were younger at diagnosis (1.00 vs. 0.71, P < 0.001), had a lower ANC at diagnosis (364.8 vs. 214.9, P < 0.001), lower ANC at nadir (356.0 vs. 50.0, P < 0.001), and higher platelet count (188×10⁹ vs. 308×10⁹, P < 0.001), monocyte count (491.5×10⁶ vs. 832.9×10⁶, P=0.010) and CRP (0.22 vs. 0.85, P=0.036).CONCLUSION: Most of the severe neutropenia occurred in children younger than 2 years of age, and virus infection was the most common cause of TSN.

Clinical Characteristics of Severe Neutropenia in Children / 임상소아혈액종양

BACKGROUND: Severe neutropenia is defined as an absolute neutrophil count (ANC) less than 0.5×109/L, which is known to increase the risk of serious bacterial infections. The aim of this study was to investigate characteristics, etiology and differences between transient and chronic severe neutropenia in children. METHODS: 204 children, who were diagnosed with severe neutropenia at the Ajou University Hospital during a 5-year period, were included in the study. Clinical and laboratory features were analyzed. The patients were classified as having transient severe neutropenia (TSN) if recovery occurred within 6 months of diagnosis, and chronic severe neutropenia (CSN) if the neutropenia persisted for 6 months or more. RESULTS: 184 (90.2%) patients with TSN and 20 (9.8%) patients with CSN were identified. Most of the TSN occurred in patients less than 2 year of age (75.5%) and rarely occurred in patients 5 years or older (5.4%). The most common cause of TSN was infection-related neutropenia (82.6%), and most of the associated infections were respiratory infections (44.6%). Compared to TSN, CSN patients were younger at diagnosis (1.00 vs. 0.71, P < 0.001), had a lower ANC at diagnosis (364.8 vs. 214.9, P < 0.001), lower ANC at nadir (356.0 vs. 50.0, P < 0.001), and higher platelet count (188×10⁹ vs. 308×10⁹, P < 0.001), monocyte count (491.5×10⁶ vs. 832.9×10⁶, P=0.010) and CRP (0.22 vs. 0.85, P=0.036). CONCLUSION: Most of the severe neutropenia occurred in children younger than 2 years of age, and virus infection was the most common cause of TSN.

Clinical and Laboratory Features of Severe Neutropenia Developed in Childhood / 임상소아혈액종양

BACKGROUND: Neutropenia is not uncommon in children. We performed this study to investigate the etiology, clinical course and laboratory characteristics for prediction of recovery in children with severe neutropenia.METHODS: In this study, we studied the clinical course and hematological features of 107 patients with severe neutropenia who were diagnosed and treated at the Department of Pediatrics, The Catholic University of Korea from April 2009 to July 2014. Patients with hematologic disorders and malignant disease were excluded. Chronic severe neutropenia (CSN) was defined as an absolute neutrophil count of 0.5x109/L or less for at least 3 months. Acute severe neutropenia (ASN) were defined who recovered within 3 months from diagnosis.RESULTS: Among 107 patients, 72 patients showed ASN and 35 patients were CSN. Median age of ASN (15.2 months) was higher than that of CSN (10.7 months). The median duration of recovery from neutropenia was 7 days (range: 2-35) in ASN. ASN was commonly related to infectious diseases and 24 cases (33.3%) had documented etiologic agents. Median duration of recovery from neutropenia was 18 months in CSN. Three of 35 patients in CSN had ELANE gene mutation. The number of white blood cells, platelets, monocytes, and eosinophils were significantly higher in group of CSN compared with ASN (P<0.05).CONCLUSION: We confirmed the great etiological heterogeneity of severe neutropenia in this study. The kinetics of recovery from neutropenia was different between the ASN and CSN group and the complete blood counts may be useful indices for discriminating ASN from CSN.

Clinical and Laboratory Features of Severe Neutropenia Developed in Childhood / 임상소아혈액종양

BACKGROUND: Neutropenia is not uncommon in children. We performed this study to investigate the etiology, clinical course and laboratory characteristics for prediction of recovery in children with severe neutropenia. METHODS: In this study, we studied the clinical course and hematological features of 107 patients with severe neutropenia who were diagnosed and treated at the Department of Pediatrics, The Catholic University of Korea from April 2009 to July 2014. Patients with hematologic disorders and malignant disease were excluded. Chronic severe neutropenia (CSN) was defined as an absolute neutrophil count of 0.5x109/L or less for at least 3 months. Acute severe neutropenia (ASN) were defined who recovered within 3 months from diagnosis. RESULTS: Among 107 patients, 72 patients showed ASN and 35 patients were CSN. Median age of ASN (15.2 months) was higher than that of CSN (10.7 months). The median duration of recovery from neutropenia was 7 days (range: 2-35) in ASN. ASN was commonly related to infectious diseases and 24 cases (33.3%) had documented etiologic agents. Median duration of recovery from neutropenia was 18 months in CSN. Three of 35 patients in CSN had ELANE gene mutation. The number of white blood cells, platelets, monocytes, and eosinophils were significantly higher in group of CSN compared with ASN (P<0.05). CONCLUSION: We confirmed the great etiological heterogeneity of severe neutropenia in this study. The kinetics of recovery from neutropenia was different between the ASN and CSN group and the complete blood counts may be useful indices for discriminating ASN from CSN.