Teaching neuroImages: Griscelli syndrome and CNS lymphohistiocytosis.
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.
From the Unit of Pediatric Neurology and Neurodevelopment (A.G.S., P.S.), Department of Pediatrics (S.N., J.K.S., A.R.), and Department of Radiodiagnosis (S.V.), Postgraduate Institute of Medical Education and Research, Chandigarh, India.
Arushi Gahlot
AG
Saini
S
S
Nagaraju
Jitendra Kumar
JK
Sahu
Amit
A
Rawat
Sameer
S
Vyas
Pratibha
P
Singhi
D002493:Central Nervous System Diseases / Q000175:diagnosis / Q000473:pathology*; D002675:Child, Preschool; D017809:Fatal Outcome; D006197:Hair; D006319:Hearing Loss, Sensorineural / Q000175:diagnosis / Q000473:pathology*; D006801:Humans; D051359:Lymphohistiocytosis, Hemophagocytic / Q000175:diagnosis / Q000473:pathology*; D008279:Magnetic Resonance Imaging / Q000379:methods; D008297:Male; D016116:Piebaldism / Q000175:diagnosis / Q000473:pathology*; D010859:Pigmentation Disorders / Q000175:diagnosis / Q000473:pathology*