An Adult Case of Megalencephalic Leukoencephalopathy with Subcortical Cysts with S93L Mutation in MLC1 Gene: A Case Report and Diffusion MRI

Itoh, Nobuo; Maeda, Masaykuki; Naito, Yutaka; Narita, Yugo; Kuzuhara, Shigeki

doi:10.1159/000096672

Cited by 14 publications

(11 citation statements)

References 14 publications

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“…Little information regarding the average life span in MLC is available, because this disease was defined only recently (1). Some reported patients have died in their teens or twenties, but several adult cases of MLC have been reported (3,4,8,14,15). The patient described in the present case was over 50 years old at the time of diagnosis.…”

Section: Discussionmentioning

confidence: 99%

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

et al. 2012

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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.

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Section: Discussionmentioning

confidence: 99%

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

et al. 2012

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“…Van Der Knaap leukoencephalopathy was reported to show increased diffusion and high ADC values of the affected white matter and subcortical cysts. An increase in diffusion rates was more pronounced in the temporal cysts 3,4,7,8 . A correlation between ADC values and functional deterioration was not detected in Gelal et Al's 3 study on five patients DWI of the cases reported so far belonged to older patients (the youngest ten months and the oldest 37 years) than ours.…”

Section: Discussionmentioning

confidence: 90%

“…Also in the acute and subacute stage of vacuolating leukoencephalopathies, diffusion is reported to be restricted, causing low ADC values 1,3,4,6-8 . Unlike other vacuolating myelinopathies, Van der Knaap was reported to show increased diffusion and high ADC values 3,4,7,8 . DWI findings suggest a different tissue damage, that causes enlargement of extracellular spaces, possibly by the coalescence of the small vacuoli.…”

Section: Discussionmentioning

confidence: 96%

Diffusion-Weighted MRI of Van Der Knaap Leukoencephalopathy

Anık

Demırcı

2007

Neuroradiol J

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An eight-month-old girl was admitted with signs and symptoms of deterioration of motor functions. Cranial MRI demonstrated widespread bilateral increased signal of cerebral white matter on T2-weighted images accompanying bilateral cyst-like structures at the subcortical location of frontal and parietal lobes and bilateral cysts at the temporal lobes. On diffusion MRI, increased diffusion with high ADC values were detected. The patient was diagnosed as an MLC subtype of Van Der Knaap Leukoencephalopathy with clinical and radiological findings. Cranial MRI and diffusion MRI findings are discussed in this paper.

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“…PelizaeusMerzbacher is rarely described in adults and the MRI findings include white matter diffuse T2-hyperintensities sparing small focal areas. MRI of patients with vacuolating leukoencephalopathy with subcortical cysts in adults shows bilateral extensive white matter changes with cysts in the temporal regions, sometimes the patients also present megalencephaly 31,32 . Final remarks, leukodystrophies should be kept in mind in the differential diagnosis of bilateral white matter disease in adults.…”

Section: Cerebrotendinous Xanthomatosismentioning

confidence: 99%

Imaging of adult leukodystrophies

Leite

Lucato

Santos

et al. 2014

Arq. Neuro-Psiquiatr.

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Leukodystrophies are genetically determined white matter disorders. Even though leukodystrophies essentially affect children in early infancy and childhood, these disorders may affect adults. In adults, leukodystrophies may present a distinct clinical and imaging presentation other than those found in childhood. Clinical awareness of late-onset leukodystrophies should be increased as new therapies emerge. MRI is a useful tool to evaluate white matter disorders and some characteristics findings can help the diagnosis of leukodystrophies. This review article briefly describes the imaging characteristics of the most common adult leukodystrophies.

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An Adult Case of Megalencephalic Leukoencephalopathy with Subcortical Cysts with S93L Mutation in MLC1 Gene: A Case Report and Diffusion MRI

Cited by 14 publications

References 14 publications

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

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

Diffusion-Weighted MRI of Van Der Knaap Leukoencephalopathy

Imaging of adult leukodystrophies

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