Cystic leukoencephalopathy without megalencephaly: a distinct disease entity in 15 children.
OBJECTIVE
To describe a distinctive syndrome of nonprogressive encephalopathy, normo- or microcephaly, and early onset of severe psychomotor impairment in 15 white patients, including two siblings and two first cousins.


RESULTS
MRI revealed bilateral cysts in the anterior part of the temporal lobe and white matter abnormalities with pericystic abnormal myelination and symmetric lesions in frontal and occipital periventricular regions. None of the usual inborn errors of metabolism/infectious diseases associated with leukoencephalopathy and bilateral anterior temporal lobe cysts were detected.


CONCLUSIONS
These patients' clinical signs and cranial MRI abnormalities are strikingly similar and may represent a distinctive disease with autosomal-recessive inheritance: cystic leukoencephalopathy without megalencephaly.
Henneke
M
M
Department of Pediatrics and Pediatric Neurology, University of Göttingen, Göttingen, Germany.
Preuss
N
N
Engelbrecht
V
V
Aksu
F
F
Bertini
E
E
Bibat
G
G
Brockmann
K
K
Hübner
C
C
Mayer
M
M
Mejaski-Bosnjak
V
V
Naidu
S
S
Neumaier-Probst
E
E
Rodriguez
D
D
Weisz
W
W
Kohlschütter
A
A
Gärtner
J
J
D000293:Adolescent; D000328:Adult; D017668:Age of Onset; D001921:Brain / Q000473:pathology* / Q000503:physiopathology; D020863:Central Nervous System Cysts / Q000473:pathology* / Q000503:physiopathology; D002540:Cerebral Cortex / Q000473:pathology / Q000503:physiopathology; D002648:Child; D002675:Child, Preschool; D002658:Developmental Disabilities / Q000473:pathology / Q000503:physiopathology; D018450:Disease Progression; D004827:Epilepsy / Q000473:pathology / Q000503:physiopathology; D005145:Face / Q000002:abnormalities; D005260:Female; D006801:Humans; D008607:Intellectual Disability / Q000473:pathology / Q000503:physiopathology; D007805:Language Development Disorders / Q000473:pathology / Q000503:physiopathology; D008279:Magnetic Resonance Imaging; D008297:Male; D009413:Nerve Fibers, Myelinated / Q000473:pathology; D009421:Nervous System Malformations / Q000473:pathology* / Q000503:physiopathology; D010641:Phenotype; D011782:Quadriplegia / Q000473:pathology / Q000503:physiopathology; D013577:Syndrome; D014421:Turkey; D044465:White People