CASE STUDY OF CHEDIAK-HIGASHI SYNDROME
The given article deals with the case history of the patient with a rare hereditary disease – Chediak – Higashi syndrome. The given syndrome is a genetic disorder inherited as an autosomal recessive and characterized by recurrent susceptibility to bacterial infections, partial albinism, photophobia, nystagmus and cytoplasmic granules in the white blood cells. The disease usually manifests itself in infancy and may develop quickly or have mild recurrent course but in elder children it develops into accelerated phase with lethal outcome under 10 years caused by infections or cancer. Specific course of the patient’s disease has been described in the paper. The use of a therapeutic complex provided an opportunity to survive into age of 19. At present, the disease progression and multiple complications are registered which suggest unfavorable prognosis.