A Japanese Adult Case of Megalencephalic Leukoencephalopathy with Subcortical Cysts with a Good Long-term Prognosis

Abstract

Megalencephalic leukoencephalopathy with subcortical cysts (MLC) is a recently recognized neurological disease, and mutations in the MLC1 gene have been identified as the cause of the disorder. A 54-year-old Japanese woman with macrocephaly presented with progressive mental decline, gait disturbance due to spasticity and ataxia, and choreoathetotic movement in the left upper extremity. Brain magnetic resonance imaging (MRI) revealed characteristic subcortical cysts in addition to diffuse white matter involvement. Genetic analysis of the MLC1 gene identified an S93L mutation in a homozygous state. This case is particularly valuable because of the lack of knowledge on the long-term prognosis of MLC.

MLC1 mutations in Japanese patients with megalencephalic leukoencephalopathy with subcortical cysts

“…On the other hand, patient 2 showed only mild cognitive and memory deficit and suffered seizures followed by weakness of the extremities at 47 years of age. This type of patient with a good long-term prognosis was also reported by Koyama et al 8 Therefore, this may not necessarily indicate that p.S93L is the mutation causing severe neurological prognosis.…”

Bipolar disorder in megalencephalic leukoencephalopathy with subcortical cysts: a case report

“…In the present patient, the S93L mutation was detected in a homozygous state. This mutation appears to be particularly common in Japanese patients with MLC [8][9][10][11].…”