Search

Megalencephalic leukoencephalopathy with subcortical cysts is a rare leukodystrophy that is characterized by macrocephaly and a slowly progressive clinical course. It is one of the most commonly reported leukoencephalopathies in Turkey. Mutations in the MLC1 gene are the main cause of the disease. We report two patients with megalencephalic leukoencephalopathy with subcortical cysts with confirmed mutations in the MLC1 gene. The mutation in the second patient was novel. We also review identified mutations in the Turkish population.

The aim of this study was to determine the spectrum of clinical abnormalities in the agyria-pachygyria complex, to identify possible causes, and to correlate the clinical features with the extent of the lesions on magnetic resonance imaging. On the basis of the magnetic resonance imaging findings, 37 patients (22 males, 15 females; mean age 21.1 +/- 31.2 months) with agyria-pachygyria complex were separated into two groups: Group 1 (18 children) manifested generalized or bilateral gyral malformation, and Group 2 (19 children) manifested localized or unilateral gyral malformation. The ratio of generalized seizures in Group 1 was significantly higher, whereas partial seizures were more common in Group 2. Group 1 patients had seizures significantly more frequently than Group 2 patients. Diffuse electroencephalographic abnormalities were significantly more common in Group 1, as were the localized abnormalities in Group 2. Hemipareses were the most frequent neurologic deficit among Group 2 patients. Spastic quadriparesis and microcephaly were more common in Group 1. In conclusion, the extent of agyria-pachygyria complex varies widely and the clinical features are accordingly diverse. Patients with bilateral or generalized gyral anomalies have poor prognosis for outcome of epilepsy and neurologic disability. The recognition of these lesions with higher-resolution techniques of magnetic resonance imaging is important for planning proper treatment and genetic counseling.