Griscelli syndrome: report of three cases.
The clinical features of three children with Griscelli syndrome and autopsy findings of two are presented. The patients were 5 years, 9 months, and 3 months old, respectively. Clinical features included partial albinism, hepatosplenomegaly, and various neurological symptoms. Light and electron microscopic studies of the skin were compatible with Griscelli syndrome. Postmortem examination of the viscera and central nervous system revealed lymphohistiocytic infiltration with erythrophagocytosis. Bilateral diffuse involvement of the central nervous system, cranial nerve, and spinal cord was detected in both cases.
Göğüş
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S
Department of Pediatrics, Hacettepe University Faculty of Medicine, Ankara, Turkey.
Topçu
M
M
Küçükali
T
T
Akçören
Z
Z
Berkel
I
I
Ersoy
F
F
Günay
M
M
Saatçi
I
I
D001927:Brain Diseases / Q000473:pathology*; D002675:Child, Preschool; D003241:Consanguinity; D005260:Female; D015616:Histiocytosis, Non-Langerhans-Cell / Q000473:pathology*; D006801:Humans; D007223:Infant; D008297:Male; D008854:Microscopy, Electron; D016116:Piebaldism / Q000473:pathology*; D013163:Splenomegaly / Q000473:pathology*; D013577:Syndrome