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|LETTER TO EDITOR
|Year : 2015 | Volume
| Issue : 3 | Page : 436-437
Megaencephalic leukoencephalopathy with subcortical cysts in a young Bengali girl
Kalyan B Bhattacharyya1, Saurabh Rai2
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 Publication||5-Jun-2015|
Kalyan B Bhattacharyya
Department of Neurology, RG Kar Medical College, Kolkata, West Bengal
Source of Support: None, Conflict of Interest: None
|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
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 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.  Later, Van der Knapp et al., from the Netherlands, published a series of eight patients with clinical and magnetic resonance imaging features,  leading to coining of the name "Van der Knapp disease." A Turkish study  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.  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.  Although common in children, there are few reports of adults with this syndrome. ,,, 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.
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[Figure 1], [Figure 2]