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

Koyama, Shingo; Kawanami, Toru; Arawaka, Shigeki; Wada, Manabu; Kato, Takeshi

doi:10.2169/internalmedicine.51.6462

Cited by 7 publications

(2 citation statements)

References 14 publications

(17 reference statements)

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“…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.…”

supporting

confidence: 74%

MLC1 mutations in Japanese patients with megalencephalic leukoencephalopathy with subcortical cysts

Shimada

Shimojima

Masuda³

et al. 2014

Hum Genome Var

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Megalencephalic leukoencephalopathy with subcortical cysts (MLC) is an autosomal recessive neurological disorder manifesting early onset macrocephaly and delayed-onset neurological deterioration. Characteristic radiological findings revealed by brain magnetic resonance imaging are the most important factors for obtaining a clinical diagnosis. In this study, we analyzed the causative gene, MLC1, in seven unrelated Japanese patients. The most common mutation in our study was p.S93L; this mutation was observed in 11 alleles (78.6%). The second most common mutation, p.A275D, was observed in two alleles (14.3%). A novel single-nucleotide deletion, c.578delG (p.V194Sfs*2), was identified in one allele. As the clinical severities of patients with MLC were variable even among those sharing identical genotypes, this condition may be modified by environmental factors, modifier genes or epigenetic factors.

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supporting

confidence: 74%

MLC1 mutations in Japanese patients with megalencephalic leukoencephalopathy with subcortical cysts

Shimada

Shimojima

Masuda³

et al. 2014

Hum Genome Var

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“…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].…”

Section: Discussionmentioning

confidence: 94%

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

et al. 2020

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Background: Megalencephalic leukoencephalopathy with subcortical cysts (MLC), or Van der Knaap disease, is a rare spongiform leukodystrophy that is characterized by macrocephaly, progressive motor dysfunction, and mild mental retardation. It is very rare for mental illness such as psychotic disorders, affective disorders and anxiety disorders to occur in MLC. Case presentation: A 17-year-old boy was admitted to our hospital after he developed symptoms of depressive state with catatonia after being diagnosed as having MLC with confirmed MLC1 mutation. His catatonic symptoms were improved with administration of olanzapine and sertraline and he was discharged after 4 months. Several months later, he became hypomanic. He was diagnosed with bipolar II disorder. Mood swings were controlled with the administration of carbamazepine. Conclusions: This case is the first report of bipolar disorder during the clinical course of MLC. This case indicate the possibility that MLC influences the development of bipolar disorder in MLC, however, further studies involving more patients are required to clarify this.

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Magnetic resonance imaging of anterior temporal lobe cysts in children: discriminating special imaging features in a particular group of diseases

2014

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

Cited by 7 publications

References 14 publications

MLC1 mutations in Japanese patients with megalencephalic leukoencephalopathy with subcortical cysts

MLC1 mutations in Japanese patients with megalencephalic leukoencephalopathy with subcortical cysts

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

Magnetic resonance imaging of anterior temporal lobe cysts in children: discriminating special imaging features in a particular group of diseases

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