Abnormalities on brain MR images during the course of familial haemophagocytic lymphohistocytosis in a child. A case report.
OBJECTIVE
To describe and report the neuroradiological findings and clinical features in a patient with familial haemophagocytic lymphohistocytosis (FHL), a rare hereditary immune dysregulation in early childhood characterised by multisystem involvement, including in approximately 30% of cases also the central nervous system (CNS).


METHODS
Serial brain MR examinations were carried out in a 4.5-year-old boy with FHL, finally complicated with Epstein-Barr virus (EBV)-driven posttransplantation lymphoma.


RESULTS
Multiple brain MR examinations before and after contrast enhancement showed discrete perivascular non-enhancing areas of high signal intensity on T2 images, and later also an enhancing lesion in the right caudate nucleus.


CONCLUSIONS
FHL should be included in the differential diagnosis of patchy white matter abnormalities in young patients. EBV-driven post-transplantation lymphoma, which may present as meningial and/or parenchymal CNS infiltration, is a differential diagnostic problem.
Sundgren
P C
PC
Department of Diagnostic Radiology, University Hospital, Lund, Sweden.
Geijer
B
B
Békássy
A N
AN
Dictor
M
M
D001921:Brain / Q000473:pathology*; D002675:Child, Preschool; D003937:Diagnosis, Differential; D015616:Histiocytosis, Non-Langerhans-Cell / Q000175:diagnosis* / Q000235:genetics; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D008279:Magnetic Resonance Imaging; D008297:Male