Megalencephalic leukoencephalopathy with cysts without MLC1 defect.
Megalencephalic leukoencephalopathy with subcortical cysts (MLC) is an autosomal recessive disease characterized by early infantile macrocephaly and delayed motor and cognitive deterioration. Magnetic resonance imaging (MRI) shows diffusely abnormal and swollen cerebral white matter and subcortical cysts. On follow-up, atrophy ensues. Approximately 80% of MLC patients have mutations in MLC1. We report 16 MLC patients without MLC1 mutations. Eight retained the classical clinical and MRI phenotype. The other 8 showed major MRI improvement. They lacked motor decline. Five had normal intelligence; 3 displayed cognitive deficiency. In conclusion, 2 phenotypes can be distinguished among the non-MLC1 mutated MLC patients: a classical and a benign phenotype.
van der Knaap
Marjo S
MS
Department of Child Neurology, VU University Medical Center, Amsterdam, the Netherlands. ms.vanderknaap@vumc.nl
Lai
Vincent
V
Köhler
Wolfgang
W
Salih
Mustafa A
MA
Fonseca
Maria-José
MJ
Benke
Tim A
TA
Wilson
Callum
C
Jayakar
Parul
P
Aine
Marjo-riitta
MR
Dom
Lina
L
Lynch
Bryan
B
Kálmánchey
Rozalia
R
Pietsch
Peter
P
Errami
Ab
A
Scheper
Gert C
GC
D000293:Adolescent; D000328:Adult; D001927:Brain Diseases / Q000150:complications / Q000473:pathology; D002648:Child; D003560:Cysts / Q000150:complications / Q000235:genetics*; D004252:DNA Mutational Analysis; D005260:Female; D005500:Follow-Up Studies; D006801:Humans; D056784:Leukoencephalopathies / Q000150:complications / Q000235:genetics* / Q000473:pathology*; D008279:Magnetic Resonance Imaging / Q000379:methods; D008297:Male; D008565:Membrane Proteins / Q000235:genetics*; D009154:Mutation / Q000235:genetics*; D012189:Retrospective Studies; D055815:Young Adult
C425069:MLC1 protein, human; D008565:Membrane Proteins