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.
Department of Child Neurology, VU University Medical Center, Amsterdam, the Netherlands. ms.vanderknaap@vumc.nl
Marjo S
MS
van der Knaap
Vincent
V
Lai
Wolfgang
W
Köhler
Mustafa A
MA
Salih
Maria-José
MJ
Fonseca
Tim A
TA
Benke
Callum
C
Wilson
Parul
P
Jayakar
Marjo-riitta
MR
Aine
Lina
L
Dom
Bryan
B
Lynch
Rozalia
R
Kálmánchey
Peter
P
Pietsch
Ab
A
Errami
Gert C
GC
Scheper
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