[Downloaded free from http://www.neurologyindia.com on Tuesday, June 09, 2015, IP: 61.16.135.116]
Letters to Editor
Satyawati Mohindra, Karan Gupta, Sandeep Mohindra1 Departments of Otolaryngology and Head–Neck Surgery, and Neurosurgery, PGIMER, Chandigarh, India
1
E‑mail: [email protected]
References 1.
Currarino G, Maravilla KR, Salyer KE. Transsphenoidal canal (large craniopharyngeal canal) and its pathologic implications. AJNR Am J Neuroradiol 1985;6:39‑43. 2. Hughes ML, Carty AT, White FE. Persistent hypophyseal (craniopharyngeal) canal. Br J Radiol 1999;72:204‑6. 3. Ekinci G, Kilic T, Baltacioglu F, Elmaci I, Altun E, Pamir MN, et al. Transsphenoidal (large craniopharyngeal) canal associated with a normally functioning pituitary gland and nasopharyngeal extension, hyperprolactinemia, and hypothalamic hamartoma. Am J Roentgenol 2003;180:76‑7. 4. Lopatin AS, Kapitanov DN, Potapov AA. Endonasal endoscopic repair of spontaneous cerebrospinal fluid leaks. Arch Otolaryngol Head Neck Surg 2003;129:859‑63. 5. Madeline LA, Elster AD. Postnatal development of the central skull base: Normal variants. Radiology 1995;196:757‑63. 6. Meder JF, Melanson D, Ethier R. Persistent craniopharyngeal canal. Apropos of 3 radiologic studies. J Neuroradiol 1983;10:265‑74. 7. Madeline LA, Elster AD. Suture closure in the human chondrocranium: CT assessment. Radiology 1995;196:747‑56. 8. Kai Y, Nagahiro S, Yoshioka S, Ushio Y. Application of the skull base technique to the repair of transsphenoidal meningoencephaloceles. Pediatr Neurosurg 1996;25:54‑6. 9. Kennedy EM, Gruber DP, Billmire DA, Crone KR. Transpalatal approach for the extracranial surgical repair of transsphenoidal cephaloceles in children. J Neurosurg1997;87:677‑81. 10. Lewin ML. Sphenoethmoidal cephalocele with cleft palate: Transpalatal versus transcranial repair. Report of two cases. J Neurosurg 1983;58:924‑31. Access this article online Website:
Quick Response Code
www.neurologyindia.com DOI: 10.4103/0028-3886.158243 PMID: xxxxx
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. 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]
Megaencephalic leukoencephalopathy with subcortical cysts in a young Bengali girl Sir, 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 436
Figure 1: Macrocephaly as evident in the lateral view of the head
Neurology India / May 2015 / Volume 63 / Issue 3
[Downloaded free from http://www.neurologyindia.com on Tuesday, June 09, 2015, IP: 61.16.135.116]
Letters to Editor
Figure 2: Plain computed tomography scan of the brain showing symmetrical hypodensity in the white matter and subcortical cysts in the temporal lobe
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. [5‑8] 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.
Kalyan B. Bhattacharyya, Saurabh Rai1 Departments of Neurology, RG Kar Medical College, 1Bangur Institute of Neurosciences, Kolkata, West Bengal, India E‑mail: [email protected]
References 1.
2.
3.
4.
5. 6.
7.
Singhal BS, Gursahani RD, Biniwale AA, Udani VP. In: Proceedings of the 8th Asian and Oceanian Congress of Neurology, Tokyo, Japan: Megaencephalic leukodystrophy in India; 1991. p. 72. 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. 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. 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. 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. 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. 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
8.
2006;56:243‑45. 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.
Access this article online Website:
Quick Response Code
www.neurologyindia.com DOI: 10.4103/0028-3886.158245 PMID: xxxxx
Cavernous sinus syndrome due to skull base metastasis: A rare presentation of hepatocellular carcinoma Sir, We report the case of a 38‑year‑old man who presented with right‑sided headache, drooping of the eyelids, decreased right‑sided facial sensation and blurred right eye vision for 2 months. He also had abdominal distension, and loss of weight and appetite. On examination, he was emaciated and icteric, and had features of right‑sided cavernous sinus syndrome with right pupil dilated and sluggishly reacting to light, ptosis, impaired right eye extraocular movements, absent right‑sided facial sensation and atrophic right masseter. His abdomen revealed a hard nodular liver of 8 cm and ascites. An magnetic resonance imaging (MRI) of the brain revealed a large lobulated solid lesion involving the right cavernous sinus and encasing the cavernous part of the right internal carotid artery [Figure 1a and b] The computed
Neurology India / May 2015 / Volume 63 / Issue 3
437
Copyright of Neurology India is the property of Medknow Publications & Media Pvt. Ltd. and its content may not be copied or emailed to multiple sites or posted to a listserv without the copyright holder's express written permission. However, users may print, download, or email articles for individual use.
Copyright of Neurology India is the property of Medknow Publications & Media Pvt. Ltd. and its content may not be copied or emailed to multiple sites or posted to a listserv without the copyright holder's express written permission. However, users may print, download, or email articles for individual use.
Letters to Editor
Satyawati Mohindra, Karan Gupta, Sandeep Mohindra1 Departments of Otolaryngology and Head–Neck Surgery, and Neurosurgery, PGIMER, Chandigarh, India
1
E‑mail: [email protected]
References 1.
Currarino G, Maravilla KR, Salyer KE. Transsphenoidal canal (large craniopharyngeal canal) and its pathologic implications. AJNR Am J Neuroradiol 1985;6:39‑43. 2. Hughes ML, Carty AT, White FE. Persistent hypophyseal (craniopharyngeal) canal. Br J Radiol 1999;72:204‑6. 3. Ekinci G, Kilic T, Baltacioglu F, Elmaci I, Altun E, Pamir MN, et al. Transsphenoidal (large craniopharyngeal) canal associated with a normally functioning pituitary gland and nasopharyngeal extension, hyperprolactinemia, and hypothalamic hamartoma. Am J Roentgenol 2003;180:76‑7. 4. Lopatin AS, Kapitanov DN, Potapov AA. Endonasal endoscopic repair of spontaneous cerebrospinal fluid leaks. Arch Otolaryngol Head Neck Surg 2003;129:859‑63. 5. Madeline LA, Elster AD. Postnatal development of the central skull base: Normal variants. Radiology 1995;196:757‑63. 6. Meder JF, Melanson D, Ethier R. Persistent craniopharyngeal canal. Apropos of 3 radiologic studies. J Neuroradiol 1983;10:265‑74. 7. Madeline LA, Elster AD. Suture closure in the human chondrocranium: CT assessment. Radiology 1995;196:747‑56. 8. Kai Y, Nagahiro S, Yoshioka S, Ushio Y. Application of the skull base technique to the repair of transsphenoidal meningoencephaloceles. Pediatr Neurosurg 1996;25:54‑6. 9. Kennedy EM, Gruber DP, Billmire DA, Crone KR. Transpalatal approach for the extracranial surgical repair of transsphenoidal cephaloceles in children. J Neurosurg1997;87:677‑81. 10. Lewin ML. Sphenoethmoidal cephalocele with cleft palate: Transpalatal versus transcranial repair. Report of two cases. J Neurosurg 1983;58:924‑31. Access this article online Website:
Quick Response Code
www.neurologyindia.com DOI: 10.4103/0028-3886.158243 PMID: xxxxx
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. 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]
Megaencephalic leukoencephalopathy with subcortical cysts in a young Bengali girl Sir, 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 436
Figure 1: Macrocephaly as evident in the lateral view of the head
Neurology India / May 2015 / Volume 63 / Issue 3
[Downloaded free from http://www.neurologyindia.com on Tuesday, June 09, 2015, IP: 61.16.135.116]
Letters to Editor
Figure 2: Plain computed tomography scan of the brain showing symmetrical hypodensity in the white matter and subcortical cysts in the temporal lobe
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. [5‑8] 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.
Kalyan B. Bhattacharyya, Saurabh Rai1 Departments of Neurology, RG Kar Medical College, 1Bangur Institute of Neurosciences, Kolkata, West Bengal, India E‑mail: [email protected]
References 1.
2.
3.
4.
5. 6.
7.
Singhal BS, Gursahani RD, Biniwale AA, Udani VP. In: Proceedings of the 8th Asian and Oceanian Congress of Neurology, Tokyo, Japan: Megaencephalic leukodystrophy in India; 1991. p. 72. 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. 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. 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. 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. 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. 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
8.
2006;56:243‑45. 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.
Access this article online Website:
Quick Response Code
www.neurologyindia.com DOI: 10.4103/0028-3886.158245 PMID: xxxxx
Cavernous sinus syndrome due to skull base metastasis: A rare presentation of hepatocellular carcinoma Sir, We report the case of a 38‑year‑old man who presented with right‑sided headache, drooping of the eyelids, decreased right‑sided facial sensation and blurred right eye vision for 2 months. He also had abdominal distension, and loss of weight and appetite. On examination, he was emaciated and icteric, and had features of right‑sided cavernous sinus syndrome with right pupil dilated and sluggishly reacting to light, ptosis, impaired right eye extraocular movements, absent right‑sided facial sensation and atrophic right masseter. His abdomen revealed a hard nodular liver of 8 cm and ascites. An magnetic resonance imaging (MRI) of the brain revealed a large lobulated solid lesion involving the right cavernous sinus and encasing the cavernous part of the right internal carotid artery [Figure 1a and b] The computed
Neurology India / May 2015 / Volume 63 / Issue 3
437
Copyright of Neurology India is the property of Medknow Publications & Media Pvt. Ltd. and its content may not be copied or emailed to multiple sites or posted to a listserv without the copyright holder's express written permission. However, users may print, download, or email articles for individual use.
Copyright of Neurology India is the property of Medknow Publications & Media Pvt. Ltd. and its content may not be copied or emailed to multiple sites or posted to a listserv without the copyright holder's express written permission. However, users may print, download, or email articles for individual use.
