Indian Agarwal megalencephalic leukodystrophy with cysts is caused by a common
            <i>MLC1</i>
            mutation

Gorospe, J. Rafael; Singhal, Bhim; Kainu, Tommi; Wu, Fen; Stephan, Dietrich A.; Trent, Jeffrey M.; Hoffman, Eric P.; Naidu, Sakkubai

doi:10.1212/01.wnl.0000115106.88813.5b

Cited by 88 publications

(80 citation statements)

References 13 publications

(16 reference statements)

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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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“…It is typically described as occuring in the Agarwal community of India [19]. It generally presents in infancy with macrocephaly, often in combination with mild gross motor and cognitive decline, gradual onset of ataxia, spasticity and relatively late onset of mild mental deterioration.…”

Section: Dysmyelinating Diseasementioning

confidence: 99%

Clinico-radiological spectrum of bilateral temporal lobe hyperintensity: a retrospective review

Sureka¹,

Jakkani²

2012

BJR

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ABSTRACT. Bilateral temporal lobe hyperintensity (BTH) is a commonly encountered MRI finding in a wide spectrum of clinical conditions and often poses a diagnostic challenge to the radiologist. The purpose of this paper is to elucidate several diseases that manifest as BTH on MRI, based on a retrospective review of cranial MRI of 65 cases seen in our institution between October 2007 and September 2010. We found BTH in different clinical scenarios that included infective diseases (herpes simplex virus, congenital cytomegalovirus infection), epileptic syndrome (mesial temporal sclerosis), neurodegenerative disorders (Alzheimer's disease, frontotemporal dementia, Type 1 myotonic dystrophy), neoplastic conditions (gliomatosis cerebri), metabolic disorders (mitochondrial encephalopathy, lactic acidosis and stroke-like episodes, Wilson's disease, hyperammonemia), dysmyelinating disease (megalencephalic leukoencephalopathy with subcortical cysts), and vascular (cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy) and paraneoplastic (limbic encephalitis) disorders. The conventional MRI findings with advanced MRI such as diffusion-weighted imaging, susceptibility-weighted imaging and MR spectroscopy along with laboratory results are potentially helpful in distinguishing the different clinical conditions and thus affect the early diagnosis and clinical outcome. MRI is the most sensitive imaging technique to depict brain lesions as altered signal intensities. Most of the lesions are demonstrated as hyperintensities on T 2 weighted and fluid-attenuated inversion-recovery (FLAIR) MR images, and the signal intensity itself is non-specific. Characteristic distribution of lesions and associated imaging findings, however, can suggest the diagnosis or narrow the differential diagnosis. Bilateral temporal lobe hyperintensity (BTH) is a commonly observed finding on MRI in different neurological disorders. We considered BTH as increased signal intensity on T 2 weighted or FLAIR MR images involving the grey or white matter or both. Compared with fast spin-echo T 2 weighted sequence, FLAIR has greater sensitivity for detection of BTH because of suppression of the cerebrospinal fluid (CSF) signal with preservation of T 2 characteristics [1]. Several neurological disorders have a distinctive propensity to involve the temporal lobes. The spectrum includes infective, epileptic syndrome, neurodegenerative, neoplastic, metabolic, dysmyelinating, vascular and paraneoplastic disorders. Associated MRI features like gyral haemorrhages, hippocampal, mamillary body and forniceal atrophy, basal ganglia (BG) hyperintensity, temporal lobe cysts, pachygyria-agyria complex and lacunar infarcts help in narrowing the differential diagnosis. Advanced MRI including diffusion-weighted imaging (DWI), susceptibility-weighted imaging (SWI) and MR spectroscopy (MRS) have an added value. Knowledge of key MRI features in the appropriate clinical setting and lab parameters can help to reach the definitive diagnosis. We retro...

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“…[4,5] In India, majority of the patients belong to the Agarwal community. [6,7] Our patient however did not belong to this community. Indian patients with megalencephaly and MR changes that show extensive white matter changes with temporal cysts should raise suspicion for MLC.…”

Section: Case Reportmentioning

confidence: 68%

“…Indian patients with megalencephaly and MR changes that show extensive white matter changes with temporal cysts should raise suspicion for MLC. [7] This disease has been assigned to the gene, MLC1, and is localized on chromosome 22qtel. [8] It has been reported that no basic biochemical defect was identified in patients with VML.…”

Section: Case Reportmentioning

confidence: 99%

Unusual Case of Van Der Knaap’s Disease Presenting at 2 Years of Age Following Head Trauma

Jani¹,

Aironi²,

Chitnis³

et al. 2015

jemds

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Megaloencephalic leucoencephalopathy with subcortical cysts (MLC) (Van Der Knaap Disease) is an entity of neurodegenerative disease characterized by infantile-onset megalencephaly, cerebral leukoencephalopathy, and a delayed on set of slowly progressive neurologic dysfunction. MLC is distinguished from other leucoencephalopathies by its remarkably slow course of neurologic deterioration. Infantile onset macrocephaly is characteristic. Age of onset varies from birth to 25 years, with median age of 6 months. [1] We report a case of 23 months old male child with a history of fall followed by an episode of seizure and vomiting. The patient underwent a non-contrast CT scan that showed prominent bilateral cortical hypodense white matter. Further imaging with MRI was indicated to rule out white matter disease.

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Indian Agarwal megalencephalic leukodystrophy with cysts is caused by a common MLC1 mutation

Cited by 88 publications

References 13 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

Clinico-radiological spectrum of bilateral temporal lobe hyperintensity: a retrospective review

Unusual Case of Van Der Knaap’s Disease Presenting at 2 Years of Age Following Head Trauma

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