Quero HA, Álvarez SRM, Sánchez NLM

Language: Spanish
References: 16
Page: 105-108
PDF size: 102.06 Kb.

ABSTRACT

Chediak-Higashi syndrome (CHS) is a rare autosomal recessive disease, characterized by partial oculocutaneous albinism, frequent pyogenic infections, and the presence of abnormal large granules in leucocytes and other granules containing cells. Strabismus and nystagmus are common. Patient have silver shinning hair, hypopigmented skin in a diffuse form. We present a case of an eleven month girl with a clinical history of chronic upper respiratory infections, with silver shining hair and diffuse hypo and hyperpigmentation, nystagmus, lymphadenopathy and massive hepatomegaly and splenomegaly. Despite the start of immunosuppressive and anti-infections therapy the disease acceleration with bacterial sepsis lead to multiorgan failure and the patient succumbed, secondary to an infections gastroenteritis.

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