Teaching neuroImages: Griscelli syndrome and CNS lymphohistiocytosis.
case_report · Level V
Where this comes from
- Record sourced from PubMed, PMID 24711539.
- Also identified by DOI 10.1212/WNL.0000000000000288.
- No licence information is recorded for this record.
- Because redistribution is not established, this page shows the abstract only. Follow the links below for the full text.
Abstract
A 3-year-old boy developed viral illness followed by fever, altered sensorium, focal seizures, and neuroregression. Examination showed silvery-gray hair (figure 1A), bilateral papilledema, spastic quadriparesis, brisk muscle-stretch reflexes, extensor plantars, hepatosplenomegaly, and normally pigmented skin, iris, and retina. Hair microscopy confirmed Griscelli syndrome (GS) (figure 1, B-D). MRI brain was suggestive (figure 2, A-D). CSF showed 20 degenerated leukocytes. He died of an intercurrent illness 2 months later.
Medical subject headings
- Central Nervous System Diseases
- Hearing Loss, Sensorineural
- Lymphohistiocytosis, Hemophagocytic
- Piebaldism
- Pigmentation Disorders