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
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.
Subject(s)
Chediak-Higashi Syndrome/complications , Chediak-Higashi Syndrome/epidemiology , Chediak-Higashi Syndrome/genetics , Chediak-Higashi Syndrome/therapy , Child, Preschool , Humans , Male , Neutropenia/epidemiology , Respiratory Tract Infections/epidemiology , Respiratory Tract Infections/etiology , Respiratory Tract Infections/therapyABSTRACT
Chediak-Higashi Syndrome is a rare inherited autosomal recessive disorder of immune system. Susceptibility to infection due to phagocyte dysfunction ranges from recurrent skin infection to over whelming fatal systemic infection. A three year old boy presented by dark skin all over the body except tiny areas of hypopigmentation. He suffered from repeated attacks of fever, cough, bloody diarrhea. On examination there was severe pallor, grey silver hair, generalized lymphadenopathy and hepatosplenomegaly. His investigations showed pancytopenia and giant lysosomal granules in the cytoplasm of neutrophils and lymphocytes. He received antibiotics for several times but in last episode he looked terminally ill and his parents refused medical advice for admission and took him to home
Subject(s)
Humans , Male , Chediak-Higashi Syndrome/genetics , Lymphatic Diseases/genetics , Pancytopenia/diagnosis , ChildABSTRACT
Os autores apresentam um caso da Síndroma de Chediak-Higashi em crianças de dois anos de idade que faleceu no 13 dia de internaçäo. Säo apresentados os achados anátomo-patológicos e comentados os aspectos imunológicos da síndroma