Acclerated phase of Chediak-Higashi syndrome-a case report with review of literature

Yıl 2012, Cilt: 4 Sayı: 4, 1 - 4, 01.12.2012

Hephzibah Rani , Deepak Kanabur

Öz

The Chediak Higashi Syndrome (CHS) is a rare autosomal recessive disease characterized by partial oculo-cutaneous albinism, frequent pyogenic infections, presence of giant granules in leucocytes and other granule containing cells. Associated findings include silvery hair, photophobia, horizontal and rotatory nystagmus, hepatosplenomegaly and peripheral neuropathy. Mutation of the LYST gene defines the syndrome.
The first case of Chediak Higashi Syndrome was reported by Bequez-cesar in 1943. Since its first description, around 170 cases have been reported in the literature till date and 10 cases have been reported from India.

Anahtar Kelimeler

CHEDIAK HIGASHI SYNDROME, ACCELERATED PHASE, ABNORMAL GRANULES

Kaynakça

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