Cystic leukoencephalopathy without megalencephaly

Abstract

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.

Cystic leukoencephalopathy without megalencephaly

“…The distinctive findings of this rare condition are bilateral temporal lobe cysts combined with a specific pattern of multifocal white matter lesions, normo-or microcephaly, and severe psychomotor retardation in a non-progressive clinical course 2,3 . Considerable effort has been done into distinguishing these patients from another leukoencephalopathy known as "megalencephalic leukoencephalopathy with subcortical cysts" (MLC) 3,5 .…”

“…Considerable effort has been done into distinguishing these patients from another leukoencephalopathy known as "megalencephalic leukoencephalopathy with subcortical cysts" (MLC) 3,5 . Firstly described in 1995, this entity is characterized by dramatic MRI changes including a typical pattern of diffuse white matter lesions and swelling with invariable frontoparietal and anterotemporal subcortical cysts, but mild clinical manifestations initially, development of macrocephaly and functional deterioration later in course 2,3,6 . Mutations in MLC1 gene have been shown to cause MLC, although there are patients with the condition in whom mutations of MLC 1 cannot be found [2][3][4][5] .…”

“…Recent reports have described an apparently non-progressive condition characterized by severe psychomotor delay with variable degrees of tone and reflex abnormalities, normo-or microcephaly, and MRI findings consisting of bilateral anterior temporal cystic lesions with pericystic abnormal myelination and symmetric patchy lesions with increased signal in the frontal and occipital periventricular white matter regions 3 . Few patients with this condition have been described in literature [1][2][3][4] . In some aspects, this condition may resembles other leukoencephalopathies such as "megalencephalic leukoencephalopathy with subcortical cysts" and "leukoencephalopathy with vanishing white matter", due to the presence of subcortical cysts and white matter abnormalities, however, the clinical presentation and other neuroimaging features are distinct 3 .…”

Netzwerkprojekte für die Erforschung von Leukodystrophien, einer Gruppe seltener Erkrankungen der weißen Substanz des Nervensystems

“…Hierzu gehören Pelizaeus-Merzbacher-ähnliche Erkrankungen und auch gewisse Leukodystrophien mit Zystenbildungen [13]. Da die Identifizierung der für diese Erkrankungen verantwortlichen Gene in der Regel über die Genkartierung in betroffenen Familien erfolgt, stellt die Rekrutierung von Patientenproben in Familien mit diesen Krankheitsbildern eine wichtige Grundlage für zukünftige genetische Untersuchungen dar.…”

“…Diese Gruppe macht heute in spezialisierten neuropädiatrischen Abteilungen etwa ein Drittel aller Leukodystrophiepatienten aus. Aufgrund der auch bei unklaren Leukodystrophien zu findenden charakteristischen Schädigungsmuster im MRT ist es durch Vergleiche der MRT-Bilder einer Reihe von Patienten mit bis dahin unklassifizierbaren Leukodystrophienformen in den letzten Jahren gelungen, neue Krank- heitsentitäten zu erkennen [13] und teilweise auch die ursächlichen Gendefekte zu identifizieren (siehe auch . Abb.…”