[Downloaded free from http://www.neurologyindia.com on Friday, April 20, 2018, IP: 103.227.71.66] Letters to Editor Figure 2: Plain computed tomography scan of the brain showing symmetrical hypodensity in the white matuer and subcortjcal cysts in the temporal lobe leading to coining of the name “Van der Knapp disease.” 2006;56:243-45. 8. Duarri A, Teijido O, Lopez-Hernandez T, Scheper GC, Barriere H, Boor I, A Turkish study [3] later established that the disease had et al . Molecular pathogenesis of megalencephalic leukoencephalopathy an autosomal recessive inheritance and Gorospe, Singhal with subcortical cysts: Mutations in MLC1 cause folding defects. Hum and co‑workers performed a detailed genetic analysis and Mol Genet 2008;17:3728-39. 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 Access this article online other case has been reported so far from West Bengal. [5] Quick Response Code Website: Although common in children, there are few reports of adults www.neurologyindia.com with this syndrome. [5‑8] Canavan’s disease, Alexander’s DOI: disease, glutaric aciduria type 1 and Tay–Sach’s disease can 10.4103/0028-3886.158245 also present with macrocephaly and symmetrical diffuse PMID: white matter edema in imaging, but the finding of subcortical xxxxx cysts, particularly in the temporal lobes, strengthens the diagnosis of van der Knaap syndrome in this case. Cavernous sinus syndrome due Kalyan B. Bhattacharyya, Saurabh Rai 1 to skull base metastasis: A rare Departments of Neurology, RG Kar Medical College, 1 Bangur presentation of hepatocellular Institute of Neurosciences, Kolkata, West Bengal, India E-mail: kalyanbrb@gmail.com carcinoma References 1. Singhal BS, Gursahani RD, Biniwale AA, Udani VP. In: Proceedings Sir, of the 8 th Asian and Oceanian Congress of Neurology, Tokyo, Japan: We report the case of a 38‑year‑old man who presented with Megaencephalic leukodystrophy in India; 1991. p. 72. 2. Cavalcanti CE, Nogueira A. Van Der Knaap syndrome. Megaencephaly right‑sided headache, drooping of the eyelids, decreased with leucodystrophy. Report of 2 cases in the same family. Arq right‑sided facial sensation and blurred right eye vision for Neuropsiquiatr 2000;58:157-61. 2 months. He also had abdominal distension, and loss of 3. Topçu M, Gartioux C, Ribierre F, Yalçinkaya C, Tokus E, Oztekin N, et al . Vacuoliting megaencephalic leucoencephalopathy with subcortical weight and appetite. On examination, he was emaciated cysts, mapped to chromosome 22qtel. Am J Hum Genet 2000;66:733-9. and icteric, and had features of right‑sided cavernous sinus 4. Gorospe JR, Singhal BS, Kainu T, Stephan WD, Trent J, Hoffman EP, syndrome with right pupil dilated and sluggishly reacting et al . Indian Agarwal megaencephalic leucodystrophy with cysts is to light, ptosis, impaired right eye extraocular movements, caused by a common MLC1 mutation. Neurology 2004;62:878-82. 5. Aditya S, Das Gupta R, Das D, Roy MK, Dhibar T, Das T. Van der Knaap absent right‑sided facial sensation and atrophic right masseter. syndrome: A case from West Bengal, India. Neurol Asia 2010;15:193-5. His abdomen revealed a hard nodular liver of 8 cm and ascites. 6. 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. An magnetic resonance imaging (MRI) of the brain revealed Neuroradiology 2003;45:137-42. a large lobulated solid lesion involving the right cavernous 7. Itoh N, Maeda M, Naito Y, Narita Y, Kuzuhara S. An adult case of sinus and encasing the cavernous part of the right megalencephalic leukoencephalopathy with subcortical cysts with S93L internal carotid artery [Figure 1a and b] The computed mutation in MLC1 gene: A case report and diffusion MRI. Eur Neurol Neurology India / May 2015 / Volume 63 / Issue 3 437
[Downloaded free from http://www.neurologyindia.com on Friday, April 20, 2018, IP: 103.227.71.66] Letters to Editor a b a b c Figure 2: Axial computed tomography (CT) image in the venous phase (a, b) shows an ill-defjned, hypodense right lobe lesion (white double arrows) against a background of chronic liver disease changes (black arrow) with ascites (white arrows); right portal vein thrombus (asterix) is also seen. Axial CT at the pelvic level (c) shows a permeatjve lesion with sofu tjssue in the right iliac bone (white arrow) suggestjve of metastasis review. [2] Lee reported 16 cases of craniospinal metastases c in HCC, of which six cases had skull metastases. [3] There Figure 1: Axial (a) and coronal T2-weighted image (b) showing a large T2 is only one reported case of HCC presenting as cavernous hypointense right cavernous sinus mass (black arrow) encasing the internal carotjd artery (ICA) (small white arrow), extending to the sphenoid sinus sinus syndrome. [4] (white arrow) and masticator space (asterix). Axial post-contrast fat- suppressed image (c) shows moderate enhancement of the lesion (white Palliative radiotherapy for skull metastases provides excellent arrow) and its extension to the posterior ethmoid sinuses and right orbital apex (black arrow). Also note the dural thickening and enhancement along pain relief and resolution of the cranial nerve deficits. the middle cranial fossa (arrowhead) Sorafenib, an oral multikinase inhibitor that blocks tumor cell proliferation and angiogenesis by acting on serine/threonine tomography (CT) scan revealed a tumor in the right lobe of kinases Raf‑1/B‑Raf, tyrosine kinases of vascular endothelial the liver and in the portal vein with features characteristic growth factor receptor‑2/‑3 and platelet‑derived growth factor of hepatocellular carcinoma (HCC) [Figure 2a‑c]. Ascitic receptor ‑bis, is the only drug currently available for advanced fluid analysis revealed low protein (0.8 g/dL), high serum HCC. The prognosis for patients with bone metastases remains ascites albumin gradient (2.6 g/dL) and total white blood cell poor, with a median survival of just 7 months. count of 90 cells/cubic mm with 90% lymphocytes. Hepatitis B surface antigen was positive. Alfa fetoprotein (AFP) was 185,000 IU/mL. Biopsy of the lesion was deferred. The patient Ronald A. B. Carey, S. D. Nathaniel, Sohini Das, was initiated on symptomatic treatment. On explanation of Sniya Sudhakar 1 the nature and prognosis of the disease, the patient’s family Departments of Medicine and 1 Radiology, Christian Medical opted for palliative care. College, Vellore, Tamil Nadu, India E-mail: ronaldcarey@gmail.com The diagnosis of HCC in a patient with underlying chronic References liver disease is established by the characteristic imaging features in MRI, along with elevated AFP levels. Biopsy is 1. Chan CH, Trost N, McKelvie P, Rophael JA, Murphy MA. Unusual case of skull metastasis from hepatocellular carcinoma. ANZ J Surg necessary only when the diagnostic imaging results are 2004;74:710-3. inconclusive. 2. Guo X, Yin J, Jiang Y. Solitary skull metastasis as the fjrst symptom of hepatocellular carcinoma: Case report and literature review. The most common sites of metastases are the lungs, lymph Neuropsychiatr Dis Treat 2014;10:681-6. 3. Lee JP. Hepatoma presenting as craniospinal metastasis: Analysis of nodes and bones. Metastases to the skull is rare, found sixteen cases. J Neurol Neurosurg Psychiatry 1992;55:1037-9. only in 0.5–1.6% of patients. [1] Among these, the base of 4. Kao HJ, Cheng ST, Chen WH, Yin HL. Cavernous sinus syndrome and skull was involved in 16 of 59 (27%) patients in a literature hepatoma metastasis. Kaohsiung J Med Sci 1998;14:117-20. Neurology India / May 2015 / Volume 63 / Issue 3 438
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