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.
Dinakar
Chitra
C
Department of Pediatrics, St. John's Medical College Hospital, Bangalore 560 034, India. chitra_dini@yahoo.co.uk
Lewin
S
S
Kumar
Karuna R
KR
Harshad
Sujatha R
SR
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