ABSTRACT
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.
Subject(s)
Humans , Male , Infant , Chediak-Higashi Syndrome/drug therapy , Chediak-Higashi Syndrome/genetics , Frameshift Mutation , Chediak-Higashi Syndrome/pathology , Delayed Diagnosis , Hair/pathology , Hypopigmentation/genetics , Hypopigmentation/pathology , Lymphohistiocytosis, Hemophagocytic/genetics , Pneumonia/diagnostic imaging , Pneumonia/genetics , Skin/pathology , Treatment OutcomeABSTRACT
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
Subject(s)
Humans , Male , Pregnancy , Chediak-Higashi Syndrome/diagnosis , Chediak-Higashi Syndrome/drug therapy , Case ReportsSubject(s)
Humans , Female , Child, Preschool , Polyneuropathies , Chediak-Higashi Syndrome/complications , Cholecystitis , Neural Conduction , Electromyography , Hyperpigmentation/etiology , Polyneuropathies , Chediak-Higashi Syndrome/diagnosis , Chediak-Higashi Syndrome/etiology , Chediak-Higashi Syndrome/drug therapy , VincristineABSTRACT
A síndrome de Chediaki-Higashi (SCH) é distúrbio raro, de caráter autossômico recessivo, caracterizada poralbinismo parcial e imunodeficiência celular com presença de grânulos gigantes nos leucócitos e outras células. Os autores apresentam um caso típico, com revisäo da literatura sobre etiologia, patogenia, evoluçäo, diagnóstico clínico laboratorial, diagnóstico diferencial e tratamento
Subject(s)
Humans , Female , Infant , Chediak-Higashi Syndrome/diagnosis , Chediak-Higashi Syndrome/etiology , Chediak-Higashi Syndrome/drug therapy , Bone Marrow Transplantation , Diagnosis, DifferentialABSTRACT
Context: Chédiak-Higashi Syndrome (CHS) is a rare autosomal recessive disease characterized by recurrent infections, giant cytoplasmic granules, and oculocutaneous albinism. Objective: To describe clinical and laboratory findings from CHS patients. Design: Case report. Setting: The patients were admitted into the Allergy and Immunology Unit of the Instituto da Criança, a tertiary public care institution. Cases Report: Seven patients had oculocutaneous albinism, recurrent infections and giant cytoplasmic granules in the leukocyte. One patient had low IgG levels and three showed impaired bactericidal activity of neutrophils. Six patients died of infectious complications during the accelerated phase. Therapy included ascorbic acid and antibiotics. Chemotherapy was used for the accelerated phase in two patients. Bone marrow transplantation (BMT) was proposed for one patient. Discussion: The authors emphasize the need for early diagnosis and therapy of CHS. BMT should be indicated before the accelerated phase of the disease has developed.