Griscelli syndrome - a case report.
Indian Pediatr
;
2004 Jul; 41(7): 734-7
Article
Dans Anglais
| IMSEAR
| ID: sea-15816
ABSTRACT
Griscelli syndrome is a rare autosomal recessive disorder characterized by partial albinism with variable immunodeficiency. Silvery gray hair with large, clumped melanosomes on microscopy of hair shafts are diagnostic. The commonest complication leading to mortality includes lymphohistiocytic proliferation in various organs, including the brain. We present a child with classic clinical features and confirmatory findings of clumped melanosomes on microscopy of hair shaft.
Texte intégral:
Disponible
Indice:
IMSEAR (Asie du Sud-Est)
Sujet Principal:
Syndrome
/
Femelle
/
Humains
/
Piébaldisme
/
Déficit immunitaire commun variable
/
Issue fatale
/
Nourrisson
langue:
Anglais
Texte intégral:
Indian Pediatr
Année:
2004
Type:
Article
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