Chediak-Higashi Syndrome in Accelerated Phase: A Rare Case Report with Review of Literature

Excerpt

Chediak-Higashi syndrome (CHS) is an extremely rare autosomal recessive primary immunodeficiency disease. The first case was reported in 1943. Since its first description, around 200 cases have been reported worldwide [1] and about 10 cases have been reported from India [2]. CHS is 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. Other clinical features include silvery hair, photophobia, horizontal and rotatory nystagmus and hepatosplenomegaly. Definitive diagnosis can only be made when the pathognomic abnormal large granules are noted in the leucocytes and other granule-containing cells [3]. …