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

Hephzibah RANİ; Deepak KANABUR

Makale detayları

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

Yazarlar:

Hephzibah RANİ | Deepak KANABUR

Yayıncı:

Bilal YILDIZ

Dergi:

Journal of Pediatric Sciences 2012 Vol.4 Issue 4, pp.1-4

Belge Tipi:

Makale

Yayın Tarihi:

11/2012

Belge Dili:

İngilizce

Document ID (Org No.):

2000743464

Sıklık:

İki Yıllık

eISSN:

1309-1247

Özet:

 

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.

Makale detayları

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

Yazarlar: Hephzibah RANİ | Deepak KANABUR

Yayıncı: Bilal YILDIZ

Dergi: Journal of Pediatric Sciences 2012 Vol.4 Issue 4, pp.1-4

Belge Tipi: Makale

Yayın Tarihi: 11/2012

Belge Dili: İngilizce

Document ID (Org No.): 2000743464

Sıklık: İki Yıllık

eISSN: 1309-1247

Sayı

Yazarlar:

Hephzibah RANİ | Deepak KANABUR

Yayıncı:

Bilal YILDIZ

Dergi:

Journal of Pediatric Sciences 2012 Vol.4 Issue 4, pp.1-4

Belge Tipi:

Makale

Yayın Tarihi:

11/2012

Belge Dili:

İngilizce

Document ID (Org No.):

2000743464

Sıklık:

İki Yıllık

eISSN:

1309-1247