Cerebellar involvement of Griscelli syndrome type 2.

Abstract

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 literature.

• Authors: Sedat Işikay
• Journal: BMJ case reports (BMJ Case Rep) Vol. 2014 (Oct 14 2014) ISSN: 1757-790X [Electronic] England
• PMID: 25315806 (Publication Type: Case Reports, Journal Article)
• Copyright: 2014 BMJ Publishing Group Ltd.

Topics

• Cerebellar Diseases (complications)
• Child, Preschool
• Fatal Outcome
• Female
• Humans
• Immunologic Deficiency Syndromes (complications)
• Lymphohistiocytosis, Hemophagocytic (complications)
• Piebaldism (complications)
• Primary Immunodeficiency Diseases