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9 rezultatet

Accelerated phase in partial albinism with immunodeficiency (Griscelli syndrome): genetics and stem cell transplantation in a 2-month-old girl.

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Identifikohuni Regjistrohu

A 2-month-old girl presented with fever, hepatosplenomegaly, pancytopenia, hypertriglyceridaemia and silvery-greyish hair, suggesting the diagnosis of Griscelli syndrome (partial albinism with immunodeficiency). This diagnosis was confirmed by the characteristic agglomeration of melanin in the hair

A syndrome associating partial albinism and immunodeficiency.

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Identifikohuni Regjistrohu

Two unrelated patients with partial albinism, frequent pyogenic infections and acute episodes of fever, neutropenia and thrombocytopenia are described. Their pigmentary dilution was characterized by large clumps of pigments in the hair shafts and an accumulation of melanosomes in melanocytes.

Partial albinism, immunodeficiency, and progressive white matter disease: a new primary immunodeficiency.

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Identifikohuni Regjistrohu

We studied 12 children who presented with a recently recognized syndrome. The salient features of this new syndrome were recurrent fever; hepatosplenomegaly; pancytopenia; blond, golden to silvery gray hair; hypopigmented skin, progressive white matter demyelination; and early death. Seven patients

Griscelli syndrome: a case report.

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Identifikohuni Regjistrohu

A 10-year-old boy presented with partial albinism and typical clinical features of a macrophage activation syndrome (hepatosplenomegaly, fever, and pancytopenia), suggesting the diagnosis of Griscelli syndrome. The diagnosis was confirmed by light microscopic evaluation of hair that showed

Chediak-Higashi syndrome presenting in accelerated phase.

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Identifikohuni Regjistrohu

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

Hematopoietic stem cell transplantation in children with Griscelli Syndrome type 2: Experience and outcomes.

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Identifikohuni Regjistrohu

Griscelli syndrome is a rare autosomal recessive inherited disorder characterized by hypopigmentation, silver colored hair, and associated immunological deficiency, which proves fatal in the absence of timely intervention. Our patients diagnosed with Griscelli syndrome-2 presented with fever,

Griscelli's syndrome: clinical features of three siblings.

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Identifikohuni Regjistrohu

Three siblings diagnosed as having Griscelli's syndrome (GS) are presented. The clinical features were partial albinism, silvery hair and absence of giant granules in the white blood cells. The diagnosis of GS was confirmed intra-vitam in the youngest sibling (propositis) at the age of nine months

Griscelli syndrome type 2: A rare and fatal syndrome in a South Indian boy.

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Identifikohuni Regjistrohu

Griscelli syndrome (GS) is a rare autosomal recessive disorder caused by mutation in the MYO5A (GS1), RAB27A (GS2), and MLPH (GS3) genes, characterized by a common feature, partial albinism. The common variant of three, GS type 2, in addition, shows primary immunodeficiency which leads to recurrent

Clinico-hematological profile of Chediak-Higashi syndrome: experience from a tertiary care center in south India.

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Identifikohuni Regjistrohu

BACKGROUND Chediak-Higashi syndrome (CHS) is a rare autosomal recessive disorder 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. The

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