Hereditary diffuse leucoencephalopathy with spheroids.
Hereditary diffuse leucoencephalopathy with spheroids (HDLS) is a rare inherited progressive leucoencephalopathy characterised by giant neuroaxonal swellings (spheroids) within the CNS white matter. The case is reported of a 45 year old woman with a rapidly progressive fulminant illness course characterised by progressive cognitive decline with depressive features. A presumed dominant inheritance pattern was elicited. This report reviews the literature on HDLS and the relation of this disorder to other conditions with giant neuroaxonal swellings.
Hancock
N
N
Department of General Internal Medicine, Royal Hobart Hospital, Tasmania, Australia. nicole.hancock@dhhs.tas.gov.au
Poon
M
M
Taylor
B
B
McLean
C
C
D001284:Atrophy; D001921:Brain / Q000473:pathology; D002545:Brain Ischemia / Q000235:genetics* / Q000473:pathology*; D002561:Cerebrovascular Disorders / Q000235:genetics* / Q000473:pathology*; D003072:Cognition Disorders / Q000209:etiology*; D005260:Female; D005625:Frontal Lobe / Q000473:pathology; D006801:Humans; D008279:Magnetic Resonance Imaging; D008875:Middle Aged