Partial albinism, immunodeficiency, hypergammaglobulinemia and Dandy-Walker cyst--a Griscelli syndrome variant.
A 6-year-old girl presented with recurrent infections, seizures, regression of milestones, silvery hair and organomegaly. A diagnosis of Griscelli syndrome with unusual features of a Dandy Walker cyst and hypergammaglobulinemia, not previously described in literature, was made. The child was treated with supportive measures.
Department of Pediatrics, St. John's Medical College Hospital, Bangalore 560 034, India. chitra_dini@yahoo.co.uk
Chitra
C
Dinakar
S
S
Lewin
Karuna R
KR
Kumar
Sujatha R
SR
Harshad
D002648:Child; D003616:Dandy-Walker Syndrome / Q000175:diagnosis* / Q000628:therapy; D005260:Female; D006801:Humans; D006942:Hypergammaglobulinemia / Q000175:diagnosis* / Q000628:therapy; D007153:Immunologic Deficiency Syndromes / Q000175:diagnosis* / Q000628:therapy; D016116:Piebaldism / Q000175:diagnosis* / Q000628:therapy; D013577:Syndrome