Dr. Antonio María Béguez César (1895-1975): fundador y maestro de la Sociedad Cubana de Pediatría de Santiago de Cuba / Dr. Antonio María Béguez César (1895-1975): founder and teacher of the Pediatrics Cuban Society in Santiago de Cuba

Con este artículo se buscó ampliar los datos biográficos del eminente científico cubano Antonio María Béguez César y divulgar aspectos poco conocidos de su prolífica existencia. Para ello se consultaron los archivos personales de la familia Béguez López y el índice de autores y materias del Boletín de la Sociedad Cubana de Pediatría y de la Revista Cubana de Pediatría, donde se consigna su bibliografía activa; además, se analizaron documentos de la época y se consideraron los testimonios de familiares, colegas y amigos del ilustre pediatra santiaguero. El trabajo forma parte del proyecto investigativo "Estrategia para incrementar la visibilidad del hallazgo científico del pediatra Dr. Antonio María Béguez César", que revela al descubridor de la "neutropenia crónica maligna familiar con granulaciones atípicas de los leucocitos", entidad clínica inscrita entre los diez hitos de la inmunología cubana, que ha sido erróneamente divulgada en el mundo científico-médico como síndrome de Chédiak-Higashi.

This work aimed at widen the biographical data of the eminent Cuban scientist Antonio María Béguez César and to spread not very well-known aspects of his prolific existence. The personal files of Béguez López family and the index of authors and matters of the Pediatrics Cuban Society Bulletin and the Pediatrics Cuban Magazine were consulted, where his active bibliography is consigned; also, documents of that time were analyzed and testimonies of family, colleagues and friends of the distinguished pediatrician from Santiago were considered. The work is part of the investigative project "Strategy to increase the visibility of the pediatrician Dr. Antonio María Béguez César scientific finding" that reveals the discoverer of "the family malignant chronic neutropenia with atypical granulations of the leukocytic cells", clinical entity inscribed among the ten landmarks of the Cuban immunology that has been erroneously spread in the scientific-medical world as Chediak-Higashi syndrome.

Contribuciones de Moisés y Alejandro Chediak a la Inmunología, la Hematología y el Laboratorio Clínico en Cuba / Contributions of Moises and Alejandro Chediak to Immunology, Hematology and Clinical Laboratory in Cuba

Los doctores Moisés y Alejandro Chediak Ahuayda, cubanos de ascendencia libanesa, realizaron importantes contribuciones a la Inmunología y otras ciencias médicas. El doctor Moisés Chediak fue director del Laboratorio Clínico Central del Hospital General Calixto García desde 1940, año en que fundó el primer banco de sangre de Cuba. Llegó a ser Profesor Auxiliar de Microscopía y Química Clínica de la Universidad de la Habana. Entre sus artículos se destacan el primer caso de anemia de Cooley en un niño en Cuba, así como el reporte de una nueva forma de inmunodeficiencia primaria conocida como síndrome de Béguez-Chediak-Higashi. Participó en numerosos eventos en América, Europa y Asia, y fue un miembro reconocido de las Sociedades Cubanas de Patología Clínica, Microbiología y de Pediatría, así como de organizaciones internacionales. Alejandro Chediak llamó la atención de la comunidad científica al desarrollar un método que solo requería de una gota de sangre en papel para el diagnóstico serológico de la sífilis. La microrreacción de Chediak fue ampliamente evaluada, adoptada y modificada en Estados Unidos, Argentina, Alemania, Polonia, México, Chile, Brasil y Francia. Diseñó un dispositivo útil para diversas técnicas de laboratorio, como la aglutinación de grupos sanguíneos, el cual fue patentado en Cuba y Estados Unidos. Fue profesor de Física Biológica de la Facultad de Medicina de la Universidad de La Habana. Los hermanos Chediak Ahuayda, quienes se formaron y alcanzaron sus más importantes resultados profesionales en nuestro país, ocupan un lugar destacado en la historia de la medicina cubana del siglo XX(AU)

Doctors Moises and Alejandro Chediak Ahuayda, whose were born in Cuba and had Lebanese ascendants, made important contributions to Immunology and other medical sciences. Doctor Moises Chediak was director of the Central Clinical Laboratory of the General Calixto Garcia Hospital from 1940, the same year when he founded the first blood bank in Cuba. He was Associate Professor of Microscopy and Clinical Chemistry at the University of Havana. The first report in Cuba of a case of Cooley's anemia in a child, and a new form of a primary immunodeficiency, known as Beguez-Chediak-Higashi syndrome, were among his most relevant papers. He participated in many congressesin America, Europe and Asia; he was an outstanding member of the Cuban Societies of Clinical Pathology, Microbiology and Pediatrics, as well as various international organizations. Alejandro Chediak got the attention of the scientific community when he developed a method that required only a drop of blood in a paper for the serological diagnostics of syphilis. Chediak's microrreaction was widely evaluated, adopted and modified in the United States, Argentina, Germany, Poland, Mexico, Chile, Brazil and France. He designed a device useful for many laboratory assays, including blood group agglutination, patented in Cuba and the United States. He was professor of Biological Physics at the Faculty of Medicineof theUniversity of Havana. The brothers Chediak Ahuayda, who were trained and obtained their most important professional achievements in our country, have a relevant place in the history of Cuban medicine during XX century(AU)

Síndrome de Chediak-Higashi em fase acelerada: um relato de caso / Accelerated Chediak-Higashi syndrome: case report

A síndrome de Chediak-Higashi (CHS) é um distúrbio genético autossômico recessivo decorrente de uma mutação no gene regulador do transporte lisossomal (LYST ou CHS1). Os sintomas da síndrome são resultado de alterações funcionais de melanócitos, plaquetas, neutrófilos e células natural killer, e incluem albinismo parcial, fotossensibilidade, infecções recorrentes, principalmente bacterianas, linfocitose hemofagocítica, sangramentos e manifestações neurológicas, como neuropatia central e periférica, perda de sensibilidade, fraqueza muscular, ataxia cerebelar e déficit cognitivo. Aproximadamente 85% dos casos se apresentam como a forma avançada, caracterizada por pancitopenia, hemofagocitose e infiltrado linfocítico em todos os órgãos, determinando falência múltipla dos órgãos. Nesse estudo é relatado o caso de uma paciente diagnosticada com a síndrome aos 8 anos de idade, apresentando a doença já em fase avançada, além de uma rápida revisão bibliográfica sobre a doença em questão.

Chediak-Higashi syndrome (CHS) is an autosomal recessive genetic disorder caused by a mutation in the lysosomal trafficking regulator gene (LYST or CHS1). Symptoms of the syndrome result from functional abnormalities in melanocytes, platelets, neutrophils and natural killer cells and include partial albinism, photosensitivity, recurrent infections (mainly bacterial), hemophagocytic lymphohistiocytosis, bleeding and neurological manifestations such as central and peripheral neuropathy, loss of sensitivity, muscle weakness, cerebellar ataxia and cognitive deficit. Approximately 85% of the cases present the advanced form, characterized by pancytopenia, hemophagocytosis and lymphocyte infiltration of all organs, determining multiple organ failure. This study reports the case of a patient diagnosed with the syndrome at 8 years of age, already at an advanced stage. A brief review of the literature available on the condition is presented.

A novel frameshift mutation of Chediak-Higashi syndrome and treatment in the accelerated phase

Chediak-Higashi syndrome (CHS) is a rare autosomal recessive immunodeficiency disease characterized by frequent infections, hypopigmentation, progressive neurologic deterioration and hemophagocytic lymphohistiocytosis (HLH), known as the accelerated phase. There is little experience in the accelerated phase of CHS treatment worldwide. Here, we present a case of a 9-month-old boy with continuous high fever, hypopigmentation of the skin, enlarged lymph nodes, hepatosplenomegaly and lung infection. He was diagnosed with CHS by gene sequencing, and had entered the accelerated phase. After 8 weeks of therapy, the boy had remission and was prepared for allogenic stem cell transplantation.

Síndrome de Chédiak-Higashi: relato de caso em indivíduo afrodescendente / Chediak-Higashi syndrome: case report in afro-descendant individual

This is a Chediak-Higashi Syndrome (CHS) case report in afro-descendant individual, male, 3 months old, born from consanguineous union. On admission he had fever for a month, unresolved pneumonia, and hepatosplenomegaly. He evolved to bacterial sepsis, septic shock, and death. CHS presents quantitative and morphological and hematological changes. Abnormal leukocyte inclusions are the pathognomonic finding of the disease; its recognition and differentiation from other leukocyte inclusions is essential for diagnosis and institution of therapy. Early diagnosis of CHS increases the life expectancy of the individual and provides appropriate therapeutic approach for patients affected by the disease...

Trata-se de relato de caso de síndrome de Chediak-Higashi (SCH) em indivíduo afrodescendente, sexo masculino, 3 meses de idade, filho de união consanguínea. Apresentava na admissão febre há um mês, pneumonia não resolvida e hepatoesplenomegalia. Evoluiu para sepse bacteriana, choque séptico e óbito. A SCH apresenta alterações hematológicas, morfológicas e quantitativas. As inclusões leucocitárias anormais constituem achado patognomônico da doença e seu reconhecimento e sua distinção de outras inclusões leucocitárias é fundamental para diagnóstico e instituição da terapêutica. O diagnóstico precoce da SCH aumenta a expectativa de vida do indivíduo e proporciona abordagem terapêutica adequada aos pacientes acometidos pela doença...

Chediak Higashi Syndrome with Recurrent Upper Respiratory Tract Infection.

A four-year old child presented with history of recurrent infections since birth, mostly upper respiratory tract infections or sino-pulmonary involvement and moderate grade fever with symptomatic relief on antibiotics and antipyretic medications. We present this case which was diagnosed as respiratory tract infection with neutropenia consistent with Chediak-Higashi syndrome(CHS), with a brief review of this rare genetic clinical entity.

Clinico-hematological profile of Chediak-Higashi syndrome: Experience from a tertiary care center in south India.

Introduction: Chediak-Higashi syndrome (CHS) is a rare autosomal recessive disorder characterized by partial ocular and cutaneous albinism, increased susceptibility to pyogenic infections, the presence of large lysosomal-like organelles in most granule-containing cells and a bleeding tendency. The abnormal granules are most readily seen in blood and marrow leukocytes, especially granulocytes; and in melanocytes. Other clinical features include silvery hair, photophobia, horizontal and rotatory nystagmus and hepatosplenomegaly. Materials and Methods: The clinico-hematological profile of a series of 5 cases of CHS encountered at JIPMER Hospital with diagnostic work-up done in the Department of Pathology over the last 6 years is presented. The diagnostic work-up included complete hemogram with peripheral smear, bone marrow examination, skin and liver biopsies. Results: The age of the patients ranged from 5 months to 3 years. All patients had silvery hair and partial albinism and presented with fever and recurrent chest infection. Two patients were stable. Three patients were in accelerated phase; of them, 1 patient with associated hemophagocytic syndrome had a rapidly fulminant course. Peripheral blood smear showed anomalously large granules in the leukocytes. Skin biopsy showed sparse, coarse melanin pigment in the epidermis, and liver biopsy done in 2 patients with accelerated phase showed portal lymphohistiocytic aggregates. Conclusions: The diagnostic hallmark of CHS is the occurrence of giant inclusion bodies (granules) in the peripheral leukocyte and their bone marrow precursors. The case series is being presented because of the rarity of CHS and varied spectrum of clinical and hematological presentation.

Current situation and research directions for cell morphology of Chediak-Higashi syndrome / 中华检验医学杂志

Based on the current situation of cell morphology of Chediak-Higashi syndrome (CHS) and the reasons for missed diagnosis or misdiagnosis of CHS,the microscopic examination on peripheral blood smear should be emphasized. Some suggestions was proposed for improving staff′s understanding of CHS,unifying the standard of morphological diagnosis of CHS and performing further researches.

Chediak-Higashi Syndrome with Hyperpigmentation

No abstract available.

A Case of Chediak-Higashi Syndrome

Chediak-Higashi syndrome is a rare autosomal recessive disease characterized by partial oculocutaneous albinism, photophobia, nystagmus, immunodeficiency with increased susceptibility to bacterial and viral infection. We experienced a 2-year old boy who presents photophobia, hypopigmentation of retinal pigment epithelium, partial cutaneous albinism, systemic findings including recurrent fever and respiratory infection, hepatosplenomegaly and pathognomic giant cytoplasmic granules in peripheral blood cells and bone marrow, and diagnosed it as a Chediak-Higashi syndrome. We present our experience of Chediak-Higashi syndrome with brief review of the literatures related to it.