Neuroimaging abnormalities in Griscelli's disease.
Griscelli's disease is a rare autosomal recessive immunodeficiency syndrome. We report a 7-1/2-month-old white girl who presented with this syndrome, but initially without neurological abnormalities. Initial CT of the brain was normal. Despite haematological remission with chemotherapy, she developed neurological symptoms, progressing to coma. At this time, CT showed areas of coarse calcification in the globi pallidi, left parietal white matter and left brachium pontis. Hypodense areas were present in the genu and posterior limb of the internal capsule on the right side, as well as posterior aspects of both thalami, together with minimal generalised atrophy. MRI revealed areas of increased T2 signal and a focal area of abnormal enhancement in the subcortical white matter. Griscelli's disease should be added to the list of acquired neuroimaging abnormalities in infants.
Sarper
Nazan
N
Department of Paediatrics, Kocaeli University Faculty of Medicine, Kocaeli, Turkey. Nazan_Sarper@hotmail.com
Akansel
Gür
G
Aydoğan
Metin
M
Gedikbaşi
Demet
D
Babaoğlu
Kadir
K
Gökalp
Ayşe Sevim
AS
D000417:Albinism / Q000235:genetics; D001927:Brain Diseases / Q000175:diagnosis* / Q000235:genetics; D003937:Diagnosis, Differential; D005260:Female; D006801:Humans; D007153:Immunologic Deficiency Syndromes / Q000175:diagnosis* / Q000235:genetics; D007223:Infant; D008279:Magnetic Resonance Imaging; D014057:Tomography, X-Ray Computed