A case report of a patient with Chedyak Higashi in the intensive care unit

Chedyak higashi syndrome,is a rare autosomal recessive disorder characterized by severe immunodeficiency, predisposition to bleeding, frequent bacterial infections, albinism dynamic and progressive neurological disorder. Accelerating the early phase of a lymphoproliferative disorder that is associated with the body's major organs such as the liver and spleen lymphocytic infiltration is determined (1). The disease is very rare, as the first case was reported in 1943 (2). Diagnosis can see large cytoplasmic inclusions specific leukocytes in bone marrow samples under a light microscope to be certain. The Deadly Syndrome large granules in the cytoplasm of all white blood cells observed are dark blue. The coarse granules are created by the integration of primary and secondary granules (3). Treatment of this disorder antibiotic prophylaxis for opportunistic pathogens followed by bone marrow transplantation (4). Referred patient with prolonged fever and intermittent hospitalization and outpatient treatment, despite not improving and he does not suggest a specific diagnosis (5). In this study, we report a case with uncommon manifestations of the disease in addition to diagnosis and treatment of protests and discuss it.
Case Report: A 4-month-old little girl is about 2 months ago, after two months with intermittent fever vaccine has been associated with anorexia, fever and weakness associated with the fever lasted more than a week and go to the pediatrician for medication acetaminophen and again presented with fever eased off. Patient was hospitalized in intensive care after a blood test, ultrasound examination of blood cells Higashi Chedyak diagnosis was made. Patient has a bright face, eyebrows almost albino, quiet along with a bit of weakness in the evaluation of patients for immune deficiency disease found nothing. Patient symptoms such as weight loss, diarrhea, vomiting, loss of consciousness, no patient has been associated with weakness. The blood cells were pancytopenia was so sick with a sharp drop in platelets to prevent bleeding together of platelets and fresh frozen plasma were administered to the patient. Patients include CBC, WBC: 700 and Plt: 27000, respectively.
Cardiovascular system problems such as failure or heart rhythm disorders were observed and echo normal and no noise and murmur was heard in echo and rhythm was Gallup. X-ray of the lungs pleural effusion was brief.
A small number of lymphocytes in the cerebrospinal fluid with round nuclei and cytoplasm was negligible. In reviewing the patient's skin in addition to being albino eyebrows and face the patient, in the buttock subcutaneous edema that was associated with fatty infiltration. Patients buttocks after infection, the body suffers from toxic Seppi sent followed with septic shock that ultimately led with cardiac arrest and died.
Chedyak higashi syndrome affects several body systems that regulate gene transfer defects in the lysosomes, leading to the transfer is incomplete vesicles towards lysosomes and the lysosomes. In the case of disease clinical symptoms of frequent infections, fever, head and eyebrows light hair, light skin and enlarged liver and spleen as well as other cases have been reported. Blood disorders such as pancytopenia, thrombocytopenia and neutropenia in these patients, there was a sharp decline and severe bleeding and infection are the leading cause of death in these patients.