Chediak-Higashi syndrome presenting in the accelerated phase
نویسندگان
چکیده
منابع مشابه
Chediak-Higashi syndrome presenting in accelerated phase.
Chediak-Higashi Syndrome (CHS) is a rare autosomal recessive disorder, characterized by silver hair, recurrent infections, partial oculo-cutaneous albinism, mild coagulation defect and progressive neuropathy. The characteristic feature of CHS is the presence of huge lysosomes and cytoplasmic inclusions within different body cells like the white blood cells. The disease has an early onset but us...
متن کاملChediak-Higashi syndrome--accelerated phase.
Chediak-Higashi syndrome (CHS), an autosomal recessive defect of polymorphonuclear leucocytic function is characterized by increased susceptibility to pyogenic infections, oculocutaneous albinism, neutropenia and presence of abnormal granules in leucocytes. This rare disorder has been described in approximately 80 cases from world over including three reports from India since its first descript...
متن کاملAccelerated phase of Chediak-Higashi syndrome.
A 18-month-old girl with a diagnosis of Chediak-Higashi syndrome (CHS) presented with severe bacterial skin infection. Recurrent episodes of bacterial infections began at the age of 2 months. On physical examination, generalized lymphadenopathy, hepatosplenomegaly, skin hypopigmentation, and silvery hair were noted. Bone marrow aspirate revealed prominent granules (top left and right) within th...
متن کاملChediak-Higashi Syndrome in Accelerated Phase Masquerading as Acute Leukemia
We present a 3-year-old female born of a consanguineous marriage with the complaints of high-grade fever, petechial spots, abdominal distension, and lymphadenopathy for 20 days. She had pallor, hypopigmented hairs, petechial rashes, and palpable lymph nodes (up to 1 cm) in the bilateral inguinal and cervical region. Systemic examination revealed hepatosplenomegaly. Her hematological profile was...
متن کاملChediak-Higashi syndrome presenting in accelerated phase: A case report and literature review.
Chediak-Higashi syndrome (CHS) is a rare autosomal recessive lysosomal disorder characterized by frequent infections, oculocutaneous albinism, bleeding diathesis, and progressive neurologic deterioration. In 85% of cases, CHS patients develop the accelerated phase characterized by pancytopenia, high fever, and lymphohistiocytic infiltration of liver, spleen, and lymph nodes. Treatment of accele...
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ژورنال
عنوان ژورنال: South African Journal of Child Health
سال: 2017
ISSN: 1999-7671,1994-3032
DOI: 10.7196/sajch.2017.v11i2.1277