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Table of Contents    
Year : 2015  |  Volume : 63  |  Issue : 3  |  Page : 436-437

Megaencephalic leukoencephalopathy with subcortical cysts in a young Bengali girl

1 Department of Neurology, RG Kar Medical College, Kolkata, West Bengal, India
2 Department of Neurology, Bangur Institute of Neurosciences, Kolkata, West Bengal, India

Date of Web Publication5-Jun-2015

Correspondence Address:
Kalyan B Bhattacharyya
Department of Neurology, RG Kar Medical College, Kolkata, West Bengal
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Source of Support: None, Conflict of Interest: None

DOI: 10.4103/0028-3886.158245

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How to cite this article:
Bhattacharyya KB, Rai S. Megaencephalic leukoencephalopathy with subcortical cysts in a young Bengali girl. Neurol India 2015;63:436-7

How to cite this URL:
Bhattacharyya KB, Rai S. Megaencephalic leukoencephalopathy with subcortical cysts in a young Bengali girl. Neurol India [serial online] 2015 [cited 2022 Jun 28];63:436-7. Available from: https://www.neurologyindia.com/text.asp?2015/63/3/436/158245


Megaencephalic leukodystrophy with subcortical cysts is a rare and inherited autosomal recessive disease that is almost exclusively observed in the Agarwal community in India. Also known as Van der Knapp disease, it is characterized by macrocephaly, leukoencephalopathy and a slow course of functional deterioration. Brain imaging shows diffuse and symmetrical edema in the white matter along with cysts in the frontal and temporal lobes.

A Bengali girl, aged 2 years and 9 months, born of non-consanguineous union, was seen by us. Her birth history was uneventful and she achieved normal motor and intellectual developmental milestones until 1.5 years of age, after which there was regression in her milestones in the form of swaying while walking. She also developed difficulty in understanding commands and her communication skills declined. Her parents also reported three episodes of seizures of generalized tonic-clonic nature during the same period. There was no history of any similar illness in the family and the child did not have any siblings. On examination, there was evident macrocephaly with head circumference of 59.3 cm, which was beyond the 95th percentile for that age [Figure 1]. Her motor examination was normal, but gait was ataxic. We considered the various causes of macrocephaly like hydrocephalus, Canavan's disease, Alexander's disease, glutaric aciduria type 1 and Tay-Sach's disease in our differential diagnosis. A computed tomography (CT) scan of the brain showed diffuse symmetrical hypodensity in the cerebral white matter along with a subcortical cyst in bilateral anterior temporal pole [Figure 2]. Considering the macrocephaly and the characteristic CT scan picture, the diagnosis of megaencephalic leukoencephalopathy with subcortical cysts or Van der Knapp's disease was entertained.
Figure 1: Macrocephaly as evident in the lateral view of the head

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Figure 2: Plain computed tomography scan of the brain showing symmetrical hypodensity in the white matter and subcortical cysts in the temporal lobe

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Megaencephalic leukoencephalopathy with subcortical cysts was originally reported by Singhal et al. from India in 1991 and, interestingly, all the patients belonged to the Agarwal community of Western India. [1] Later, Van der Knapp et al., from the Netherlands, published a series of eight patients with clinical and magnetic resonance imaging features, [2] leading to coining of the name "Van der Knapp disease." A Turkish study [3] later established that the disease had an autosomal recessive inheritance and Gorospe, Singhal and co-workers performed a detailed genetic analysis and established the disease as a distinct entity with a common locus at the MLC 1 gene. [4] The disease is extremely rare in Eastern India and, to the best of our knowledge, only one other case has been reported so far from West Bengal. [5] Although common in children, there are few reports of adults with this syndrome. [5],[6],[7],[8] Canavan's disease, Alexander's disease, glutaric aciduria type 1 and Tay-Sach's disease can also present with macrocephaly and symmetrical diffuse white matter edema in imaging, but the finding of subcortical cysts, particularly in the temporal lobes, strengthens the diagnosis of van der Knaap syndrome in this case.

  References Top

Singhal BS, Gursahani RD, Biniwale AA, Udani VP. In: Proceedings of the 8 th Asian and Oceanian Congress of Neurology, Tokyo, Japan: Megaencephalic leukodystrophy in India; 1991. p. 72.  Back to cited text no. 1
Cavalcanti CE, Nogueira A. Van Der Knaap syndrome. Megaencephaly with leucodystrophy. Report of 2 cases in the same family. Arq Neuropsiquiatr 2000;58:157-61.  Back to cited text no. 2
Topçu M, Gartioux C, Ribierre F, Yalçinkaya C, Tokus E, Oztekin N, et al. Vacuoliting megaencephalic leucoencephalopathy with subcortical cysts, mapped to chromosome 22qtel. Am J Hum Genet 2000;66:733-9.  Back to cited text no. 3
Gorospe JR, Singhal BS, Kainu T, Stephan WD, Trent J, Hoffman EP, et al. Indian Agarwal megaencephalic leucodystrophy with cysts is caused by a common MLC1 mutation. Neurology 2004;62:878-82.  Back to cited text no. 4
Aditya S, Das Gupta R, Das D, Roy MK, Dhibar T, Das T. Van der Knaap syndrome: A case from West Bengal, India. Neurol Asia 2010;15:193-5.  Back to cited text no. 5
Brockmann K, Finsterbusch J, Terwey B, Frahm J, Hanefeld F. Megalencephalic leukoencephalopathy with subcortical cysts in an adult: Quantitative proton MR spectroscopy and diffusion tensor MRI. Neuroradiology 2003;45:137-42.  Back to cited text no. 6
Itoh N, Maeda M, Naito Y, Narita Y, Kuzuhara S. An adult case of megalencephalic leukoencephalopathy with subcortical cysts with S93L mutation in MLC1 gene: A case report and diffusion MRI. Eur Neurol 2006;56:243-45.  Back to cited text no. 7
Duarri A, Teijido O, Lopez-Hernandez T, Scheper GC, Barriere H, Boor I, et al. Molecular pathogenesis of megalencephalic leukoencephalopathy with subcortical cysts: Mutations in MLC1 cause folding defects. Hum Mol Genet 2008;17:3728-39.  Back to cited text no. 8


  [Figure 1], [Figure 2]


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