Griscelli syndrome type 2: A silvery hair syndrome with hemophagocytosis

griscelli syndrome type 2; a pediatric case with immunodeficiency

a 3.5 month-old girl was admitted with silvery gray hair, light  colored skin, recurrent diarrhea, chest infections, hepatosplenomegaly, episodes of pancytopenia, and hemophagocytosis in the bone marrow. light microscopy of hair showed characteristic large and irregular clumps of melanin in the middle of hair shaft. peripheral blood smear examination did not show giant granules in granulocytes....

Griscelli syndrome type 2; a pediatric case with immunodeficiency.

A 3.5 month-old girl was admitted with silvery gray hair, light colored skin, recurrent diarrhea, chest infections, hepatosplenomegaly, episodes of pancytopenia, and hemophagocytosis in the bone marrow. Light microscopy of hair showed characteristic large and irregular clumps of melanin in the middle of hair shaft. Peripheral blood smear examination did not show giant granules in granulocytes. ...

Cerebellar involvement of Griscelli syndrome type 2.

Griscelli syndrome type 2 is characterised by partial albinism and primary immunodeficiency. We present a case of a 3-year-old girl diagnosed with cerebellar involvement of Griscelli syndrome type 2. Neurological complications may accompany Griscelli syndrome, however, to the best of my knowledge there are only a few case reports of cerebellar involvement of Griscelli syndrome type 2 in the lit...

Premature birth, respiratory distress, intracerebral hemorrhage, and silvery-gray hair: differential diagnosis of the 3 types of Griscelli syndrome.

SUMMARY A preterm neonate, born to consanguineous parents, presented with respiratory distress, intracerebral hemorrhage, and a silvery-gray sheen of the hair and eyelashes. Griscelli syndrome (GS) type 3 was diagnosed after the detection of a novel homozygous mutation of the melanophilin gene. Thus, only the hypopigmentation, but not the patient's other clinical features, were attributable to ...

Griscelli Syndrome