ABSTRACT
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
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.
Subject(s)
Blood Cells/cytology , Bone Marrow/pathology , Chediak-Higashi Syndrome/complications , Chediak-Higashi Syndrome/pathology , Child, Preschool , Cytoplasmic Granules/ultrastructure , Female , Fever/etiology , Hospitals , Humans , India , Infant , Leukocytes/cytology , Liver/pathology , Male , Respiratory Tract Infections/diagnosis , Respiratory Tract Infections/pathology , Skin/pathology , Tertiary Care CentersSubject(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
Chédiak-Higashi syndrome is a rare hematological disease characterized by increased fusion of cytoplasmatic granules. Neurological symptoms occur in approximately half of the patients. We describe the clinical, eletrophysiological, hematological and radiological findings in a girl who had Chédiak-Higashi syndrome and seizures.