A new leukoencephalopathy with bilateral anterior temporal lobe cysts.
We describe an identical syndrome of cystic leukoencephalopathy in three Turkish children, including two siblings. The neurological findings were noted within the first months of life and include severe intellectual impairment, motor retardation, and spasticity. Magnetic resonance imaging of the brain showed extensive cysts within the anterior temporal lobes, ventricular enlargement and white matter disease. The signal intensities of the cysts' content were identical to those of the cerebrospinal fluid. The patients' screening for known inborn errors of metabolism, especially those characterised by white matter involvement, did not reveal any abnormality. The clinical picture and the magnetic resonance imaging characteristics are unique diagnostic features of a new disease entity so far not described in the literature.
Olivier
M
M
Zentrum für Kinderheilkunde, Heinrich-Heine-Universität Düsseldorf, Germany.
Lenard
H G
HG
Aksu
F
F
Gärtner
J
J
D002648:Child; D002675:Child, Preschool; D003241:Consanguinity; D003560:Cysts / Q000150:complications / Q000175:diagnosis*; D003711:Demyelinating Diseases / Q000150:complications / Q000175:diagnosis* / Q000235:genetics; D002658:Developmental Disabilities / Q000209:etiology; D002549:Diffuse Cerebral Sclerosis of Schilder / Q000150:complications / Q000175:diagnosis* / Q000235:genetics; D004829:Epilepsy, Generalized / Q000175:diagnosis / Q000209:etiology; D005260:Female; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D008607:Intellectual Disability / Q000209:etiology; D008279:Magnetic Resonance Imaging; D008297:Male; D013577:Syndrome; D013702:Temporal Lobe / Q000648:ultrastructure; D014421:Turkey / Q000208:ethnology