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El Síndrome de Chediak-Higashi (SCH) es una patología de herencia autosómica recesiva debido principalmente a mutaciones del gen regulador del tráfico lisosómico (LYST), causando grados dermatológicamente diferentes de albinismo óculocutáneo, infecciones recurrentes, disfunción fagocítica primaria, en el desarrollo y proliferación de todas las líneas celulares. Se presenta caso de preescolar masculino de 2 años de edad, ingresado por aumento de volumen bilateral en región cervical y fiebre, en malas condiciones generales, con áreas de hiperpigmentación en piel, cabello y cejas de coloración grisácea, adenopatías generalizadas y visceromegalias; leucocitosis con linfocitosis y neutropenia, anemia, trombocitopenia, hipoalbuminemia, hipertrigliceridemia e hiperferritinemia; en vista de la infrecuente coexistencia de dichas características con albinismo óculocutáneo; es evaluado por hematología y dermatología evidenciándose inclusiones citoplasmáticas y melanosomas gigantes, respectivamente, compatibles con SCH, confirmándose diagnóstico. El conocimiento del SCH es importante para la oportuna sospecha clínica-diagnóstica e inicio de protocolos terapéuticos en consenso, que garanticen un manejo eficaz para su sobrevida(AU)

Chediak-Higashi syndrome (SCH) is an auto somal recessive in herited pathology mainly due to mutations ofthe LYST gene, causing dermatologically different degrees of oculocutaneous albinism, recurrent infections, primary phagocytic dysfunction, in the development and proliferation of all cell lines. We present a case of a 2-year-old male preschool, admitted due to bilateral volume increase in thecervical region and fever, in poor general conditions, with areas of hyperpigmentation in skin, hair and eyebrows of grayish coloration, generalized lymphadenopathy and visceromegaly; leukocytosis with lymphocytosis and neutropenia, anemia, thrombocytopenia, hypoalbuminemia, hypertriglyceridemia,and hyperferritinemia; in view of the infrequent coexistence of these characteristics with oculocutaneous albinism; it isevaluated by hematology and dermatology, showing cytoplasmicinclusions and giant melanosomes, respectively, compatiblewith SCH, confirming the diagnosis. Knowledge of SCH is important for timely clinical-diagnostic suspicion and initiation of consensus therapeutic protocols that guarantee effective management for survival(AU)

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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.

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BACKGROUND: Chediak-Higashi syndrome (CHS) is a rare and potentially fatal autosomal recessive disease characterized by frequent bacterial infections, bleeding tendency, oculocutaneous albinism, photosensitivity and progressive neurologic dysfunction. Owing to the rarity of this condition, the objective of this study was to describe patients with CHS. METHODS: Retrospective evaluation of patients followed in a paediatric tertiary centre of Allergy and Immunology of São Paulo, Brazil, between 1986 and 2018 with a confirmed diagnosis of CHS. Data were obtained from medical records. Demographic aspects, family history, clinical findings, laboratory data, diagnosis, treatment and outcome were described. RESULTS: A total of 14 patients (five male) were included. Clinical manifestations were first recognized at a median age of two months (at birth-20 months). Median age at diagnosis was 1.7 years (0-5 years). All patients had recurrent infections. Albinism was present in 13 patients and silvery or light hair was present in 14. Seven patients developed hemophagocytic lymphohistiocytosis (HLH); the median age at the diagnosis of HLH was 5.7 years (2.6-6.7 years) and the median interval between the diagnosis of CHS and HLH was 3.3 years (0-5 years). Four of the most recently diagnosed patients underwent bone marrow transplantation (BMT). Nine patients are deceased, and one was lost to follow-up. The median age of death was 6.7 years (3.8-22 years). Five patients died of HLH, one of lymphoma, and three of infection. All the patients who had HLH before the year of 2000 died of HLH. The two most recently diagnosed patients with HLH were able to cure the HLH, although they died of other causes. Four patients are alive, three of them after successful BMT. CONCLUSION: Thirty years of follow up showed an improvement in the prognosis in patients with CHS. The better understanding of the underlying biological mechanisms of HLH allowed the standardization of management protocols, resulting in survival improvement. BMT is the only treatment that can change CHS prognosis, which emphasizes the need for early identification of the disease.

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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)

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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.

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INTRODUCTION: Chediak-Higashi syndrome (CHS) is a very rare autosomal recessive disorder (gene CHS1/LYST) characterized by partial albinism, recurrent infections, and easy bruising. Survivors develop a constellation of slowly progressive neurological manifestations. METHODS: We describe clinical, laboratory, electrophysiological, and genetic findings of a patient who developed an immune-mediated demyelinating neuropathy as the main clinical feature of CHS. RESULTS: The patient presented with subacute flaccid paraparesis, absent reflexes, and reduced vibration sense. Protein and immunoglobulins (Igs) were elevated in the cerebrospinal fluid. Electrodiagnostic tests indicated an acquired chronic demyelinating polyneuropathy. Intravenous Ig and immunosuppressant treatment resulted in neurological improvement. The patient later developed organomegaly and pancytopenia. Bone-marrow smear revealed giant azurophilic granules pathognomonic for CHS. Two novel mutations in the LYST gene were identified through whole exome sequencing [c.7786C>T and c.9106 + 1G>T]. CONCLUSIONS: This case expands the clinical phenotype of CHS and highlights inflammatory demyelinating neuropathy as a manifestation of the disease. Muscle Nerve 55: 756-760, 2017.

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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.

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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...

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The Chediak-Higashi syndrome (CHS) is a rare hereditary fatal disease, if not treated. These changes are associated with various diseases and syndromes that mainly cause periodontal disease and thus the premature loss of teeth. This paper describes the monitoring of premature loss of primary teeth that began when the child was 5 years old. On presentation his teeth were mobile and there was a history of gingival bleeding. Panoramic radiography revealed generalized and severe bone loss, and the teeth showed no bony support enough for their stability. Blood test was ordered to assess the overall health of the child and giant cells with cytoplasmic granules were found, confirming the diagnosis of CHS. The management of periodontal disease focused on the control of infection and bacterial plaque by mechanical and chemical methods.

A síndrome de Chediak-Higashi (CHS) é uma doença rara hereditária e fatal se não for tratada. Estas alterações estão associadas com várias doenças e síndromes que, principalmente, causa a doença periodontal assim como perda prematura de dentes. Este artigo descreve o monitoramento de perda prematura de dentes decíduos, que começou quando a criança tinha 05 anos. Na apresentação os dentes estavam com mobilidade e apresentava sangramento gengival. As radiografias panorâmicas revelaram perda óssea generalizada e grave, e os dentes sem suporte ósseo suficiente para a sua estabilidade. Foi realizada o exame de sangue para avaliar a saúde geral da criança no qual foi encontrado células gigantes com grânulos citoplasmáticos, confirmando o diagnóstico de CHS. O tratamento da doença periodontal por meio de métodos mecânicos e químicos são necessários para controle da infecção e da placa bacteriana.

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El síndrome de Beguez-Chediak-Higashi es una enfermedad rara, autosómica recesiva, descrita en Cuba por el Dr. Beguez-César en 1943. Se presenta un paciente masculino de 8 meses de edad con antecedentes de infecciones graves, obesidad, palidez cutáneo-mucosa intensa, cabello de color plateado, hepatoesplenomegalia y anemia con presencia de gránulos lisosomales gigantes en las células del sistema granulopoyético. Se trató con prednisona, vincristina, etopósido y aciclovir oral con respuestas parciales y transitorias(AU)

Beguez-Chediak-Higashi syndrome is a rare illness; it was described in 1943 by Dr. Beguez-Cesar in Cuba. We present an 8 months boy with frequent infections, obesity, intense paleness, silver hair, hepatomegaly, splenomegaly, anemia and big lisosomal granules in myelopoietic system. He was treated with prednisolona, vincristin, VP-16, and oral acyclovir with partial and transitory results(AU)

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El síndrome de Beguez-Chediak-Higashi es una enfermedad rara, autosómica recesiva, descrita en Cuba por el Dr. Beguez-César en 1943. Se presenta un paciente masculino de 8 meses de edad con antecedentes de infecciones graves, obesidad, palidez cutáneo-mucosa intensa, cabello de color plateado, hepatoesplenomegalia y anemia con presencia de gránulos lisosomales gigantes en las células del sistema granulopoyético. Se trató con prednisona, vincristina, etopósido y aciclovir oral con respuestas parciales y transitorias

Beguez-Chediak-Higashi syndrome is a rare illness; it was described in 1943 by Dr. Beguez-Cesar in Cuba. We present an 8 months boy with frequent infections, obesity, intense paleness, silver hair, hepatomegaly, splenomegaly, anemia and big lisosomal granules in myelopoietic system. He was treated with prednisolona, vincristin, VP-16, and oral acyclovir with partial and transitory results

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