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PubMed · 15053385

Griscelli syndrome.

Sanjeev Rath·Vivek Jain·R K Marwaha·Amita Trehan·L S Rajesh·Vijay Kumar
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Abstract

An eight month old male infant presented with recurrent infections and partial albinism. Initially a possibility of Chediak Higashi syndrome (CHS) was considered, but a negative investigative work up prompted us to look for an alternate diagnosis. A literature search revealed that Griscelli syndrome (GS) has overlapping symptoms and signs. The findings in skin and hair biopsies in Griscelli syndrome are distinctive.

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Chediak-Higashi SyndromeDiagnosis, DifferentialHepatomegalyHumansImmunologic Deficiency SyndromesInfantMalePancytopeniaPiebaldismSplenomegalyCase ReportsJournal Article

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Sanjeev Rath, Vivek Jain, R K Marwaha, Amita Trehan, L S Rajesh, Vijay Kumar. 2004. Griscelli syndrome.. https://doi.org/10.1007/bf02723104

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PubMed2006

Chediak-Higashi syndrome: report of a case with uncommon presentation and review literature.

Chediak-Higashi syndrome (CHS) is a very rare autosomal recessive immunodeficiency disorder characterized by partial albinism, recurrent pyogenic infections, and large granules in all granule-containing cells. The author describes a Thai girl who was the first case of CHS in Thailand. She presented in the accelerated phase of CHS, which leads to repeated infections and bleeding, often resulting in fatal outcome. Pancytopenias, hepatosplenomegaly, lymphohistiocytic infiltration in bone marrow and the abnormal characteristic granules in leukocyte clinched the diagnosis.

Chediak-Higashi Syndrome↗