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9.
Delayed intraparenchymal hemorrhage following pipeline embolization device treatment for a giant recanalized ophthalmic aneurysms. J Neurointerv Surg 2012;4:e24. Phillips TJ, Wenderoth JD, Phatouros CC, Rice H, Singh TP, Devilliers L, et al. Safety of the pipeline embolization device in treatment of posterior circulation aneurysms. AJNR Am J Neuroradiol 2012;33:1225‑31. Access this article online Quick Response Code:
Website: www.neurologyindia.com PMID: *** DOI: 10.4103/0028-3886.141268
Figure 5: Catastrophic hemorrhage into the brainstem along with intraventricular hemorrhage
aneurysms amenable to more established techniques, either open or endovascular, should be promoted with caution, within an investigative, regulated environment to be able to provide accurate information about the device’s efficacy and maybe change definitively the landscape of cerebrovascular neurosurgery.
Ashish Kumar1,2, Victor Yang2, Leodante Dacosta2 1
Department of Neurosurgery, Nizam’s Institute of Medical Sciences, Hyderabad, Andhra Pradesh, India, 2Division of Neurosurgery, Sunnybrook Health Sciences Centre, University of Toronto, Ontario, Canada E‑mail: [email protected]
References 1. Lylyk P, Miranda C, Ceratto R, Ferrario A, Scrivano E, Luna HR et al. Curative endovascular reconstruction of cerebral aneurysms with the pipeline embolization device: The Buenos Aires experience. Neurosurgery 2009;64:632‑42. 2. Kuzmik GA, Williamson T, Ediriwickrema A, Andeejani A, Bulsara KR. Flow diverters and a tale of two aneurysms. J Neurointerv Surg 2013;5:e23. 3. Hampton T, Walsh D, Tolias C, Fiorella D. Mural destabilization after aneurysm treatment with a flow‑diverting device: A report of two cases. J Neurointerv surg 2011;3:167‑71. 4. Dehdashti AR, Thines L, Willinsky RA, Tymianski M. Symptomatic enlargement of an occluded giant carotido‑ophthalmic aneurysm after endovascular treatment: The vasa vasorum theory. Acta Neurochir (Wien) 2009;15:1153‑8. 5. Chow M, McDougall C, O’Kelly C, Ashforth R, Johnson E, Fiorella D. Delayed spontaneous rupture of a posterior inferior cerebellar artery aneurysm following treatment with flow diversion: A clinicopathologic study. AJNR Am J Neuroradiol 2012;33:E46‑51. 6. Ding D, Starke RM, Liu KC. Microsurgical strategies following failed endovascular treatment with the pipeline embolization device: Case of a giant posterior cerebral artery aneurysm. J Cerebrovasc Endovasc Neurosurg 2014;16:26‑31. 7. Cruz JP, Chow M, O’Kelly C, Marotta B, Spears J, Montanera W, et al. Delayed ipsilateral parenchymal hemorrhage following flow diversion for the treatment of anterior circulation aneurysms. AJNR Am J Neuroradiol 2012;33:603‑8. 8. Velat GJ, Fargen KM, Lawson MF, Hoh BL, Fiorella D, Mocco J. Neurology India | Jul-Aug 2014 | Vol 62 | Issue 4
Received: 20‑05‑2014 Review completed: 01‑06‑2014 Accepted: 24‑08‑2014
Cervical spinal cord compression caused by X‑linked hypophosphatemic rickets with a novel PHEX mutation Sir, X‑linked hypophosphatemic rickets (XLH) is an uncommon inherited phosphate‑wasting disorder and is caused by the mutations in the PHEX gene. The typical features of XLH include rickets, short stature, bone pain, tooth abscesses and lower extremity deformities.[1,2] In addition to these features, calcification of entheses (tendons, ligaments, and joint capsules) is common among these patients.[3] Spinal cord compression caused by ossification of spinal ligaments, especially the ossification of the posterior longitudinal ligament (OPLL), in XLH patients is rarely reported. Here, we report the first Chinese patient of XLH with cervical spinal cord compression caused by a novel PHEX mutation. A 42‑year‑old Chinese woman presented with lower limb weakness and severe bone pain. She became wheelchair bound at the age of 38 years. Physical examination revealed short stature, bowing of legs [Figure 1a], and loss all teeth [Figure 1b]. Neurologic examination revealed spastic paraplegia in the lower limbs (motor power 1/5) with sensory loss below the neck and mute plantar response. Magnetic resonance imaging (MRI) of cervical spine [Figure 1c], done 5 years before revealed protrusion of cervical disc at C5‑C6 and OPLL with significant cord compression. However, computed tomography of the cervical spine could not be done as the patients refused to the investigation. Laboratory investigations at the time of 451
[Downloaded free from http://www.neurologyindia.com on Thursday, September 25, 2014, IP: 202.177.173.189] || Click here to download free Android application fo this journal Letters to Editor
a
c
b
d Figure 1: (a) The proband has been paralyzed to wheelchair-bound and her lower limbs were apparently bowing. (b) The proband lost almost all of her teeth. (c) T2-weighted, sagittal magnetic resonance imaging scan of the cervical spine, shows protrusion of cervical intervetebral disc at C5/C6 and the corresponding dural sac edge is significntly compressed of the proband. Spinal canal stenosis at C4-C6 could be seen and may attribute to ossification of the posterior longitudinal ligament (OPLL). (d) The pedigree of the XLH family
presentation revealed low serum phosphate 0.62 mmol/L (normal: 0.97-1.62 mmol/L), normal serum calcium 2.37 mmol/L (normal: 2.05-2.60 mmol/L), elevated alkaline phosphatase 218 U/L (normal: 30-140 U/L), elevated serum parathyroid hormone 81.49 pg/ml (normal: 15.00-65.00 pg/ml), normal 25‑hydroxy vitamin 48.8 pmol/L (normal, 35-150 pmol/L). These findings supported the clinical diagnosis of XLH. Family pedigree showed five other living affected members [Figure 1d]. However, none of them has neurological deficits. Genetic screening was done after written informed consent. Sanger sequencing of PHEX gene identified a novel missense mutation c. 1643 T > C, p.Ile548Thr in exon 15 [Figure 2a]. The mutation was not recorded by the HGMD (http://www.hgmd.cf.ac.uk) or PHEX mutation database (http://www.phexdb.mcgill.ca). The mutation was co‑segregated in the family and was absent in 100 matched chromosomes. The mutation resulted in the substitution of highly conserved PHEX amino acids in different 24 species [Figure 2b] and was predicted to be probably damaging by PolyPhen analysis software. All of these suggested that this mutation was the causative mutation in this family. 452
a
b Figure 2: Mutational analysis and evolutionary conservation of the residues p.548. (a) A missense mutation, c.1643T>C in exon 15 of the PHEX gene, was found. (b) The residue (p.548), which is marked in the figure, is highly conserved
Acknowledgment This work was supported by the National Natural Science Foundation of China (Proj. No. 81371266 and 30973221) and the Program for Zhejiang Leading Team of Science and Technology Innovation (Proj. No. 2010R50049‑04). Neurology India | Jul-Aug 2014 | Vol 62 | Issue 4
[Downloaded free from http://www.neurologyindia.com on Thursday, September 25, 2014, IP: 202.177.173.189] || Click here to download free Android application fo this journal Letters to Editor
Fei Xie*, Zhi-dong Cen*, Li-li Chen1, Wei Luo Departments of Neurology, and 1Stomatology, The Second Affiliated Hospital, School of Medicine, Zhejiang University, Hangzhou, P. R. China E‑mail: [email protected] *These authors contributed equally to this work and should be considered co-first authors
References 1. Econs MJ, McEnery PT. Autosomal dominant hypophosphatemic rickets/osteomalacia: Clinical characterization of a novel renal phosphate‑wasting disorder. J Clin Endocrinol Metab 1997;82:674‑81. 2. Gaucher C, Walrant‑Debray O, Nguyen TM, Esterle L, Garabedian M, Jehan F. PHEX analysis in 118 pedigrees reveals new genetic clues in hypophosphatemic rickets. Hum Genet 2009;125:401‑11. 3. Polisson RP, Martinez S, Khoury M, Harrell RM, Lyles KW, Friedman N, et al. Calcification of entheses associated with X‑linked hypophosphatemic osteomalacia. N Engl J Med 1985;313:1‑6. Access this article online Quick Response Code:
Website: www.neurologyindia.com PMID: *** DOI: 10.4103/0028-3886.141271
Received: 04‑06‑2014 Review completed: 05‑06‑2014 Accepted: 24‑08‑2014
Endoscopic cure for post‑traumatic pneumocephalus: When air hits the brain, treatment may not be the same Sir, The causes and management of tension pneumocephalus have been well discussed. [1] Skull base endoscopy is also an often cited cause of pneumocephalus. [2] Herein, we describe an innovative way of treatment of post‑traumatic pneumocephalus using endoscopic frontal sinus packing. A 23‑year‑old man presented with recent onset left side progressive hemiparesis following a head injury three months back. Neurologic examination revealed left hemiparesis with motor power of 3/5. There was no cerebrospinal fluid (CSF) rhinorrhea. Computer
Neurology India | Jul-Aug 2014 | Vol 62 | Issue 4
tomography (CT) scans done at the time of injury showed bifrontal fracture with right frontal contusions. CT scan done at the time of present admission showed right frontal pneumocephalus probably secondary to fractured posterior wall of frontal sinus causing mass effect leading to subfalcine herniation. He underwent endoscopic frontal sinus obliteration using autogenic fat and fascial graft following which his hemiparesis improved significantly. Postoperative CT scan showed complete resolution of pneumocephalus and the mass effect. At the time of discharge he was independently ambulant [Figure 1]. Appearance of delayed pneumocephalus was suggestive of persistent ingress of air. The significant and expanding volume of air was suggestive of uncompensated absorption by brain parenchyma. The presence of likely “Dandy’s ball valve mechanism” was thought of, which was leading to progressive accumulation without a significant egress. [1] The fractured posterior wall of frontal sinus was probably acting as a conduit for air after each inhalation. Based on the assumptions we decided to break this vicious cycle by endoscopically sealing off the frontal sinus. As soon as the constant ingress of air stopped the entrapped air got absorbed thereby reducing the stretch on precentral motor fibers resulting in quick recovery of hemiparesis. Various described methods of treating pneumocephalus range from simple twist drill or burr hole to craniotomies.[3] There was one report mentioning use of nasal endoscopic incision of pericranial graft to release tension pneumocephalus developed after anterior skull base surgery for esthesioneuroblastoma.[4] Most of these strategies are directed at providing new exit point of pneumocephalus. The present case is unique as it was treated with minimally invasive endoscopic method hitting the root cause of disease. It avoided the complications of extensive craniotomy. The endoscopic skull base surgeon always harbored the fear of post procedural pneumocephalus, however, the use of same tool for its treatment has not been described earlier.[2] The entire surgical science revolves around the philosophy of “treatment of the cause” and finding minimally invasive approaches for the same.
Ishtyaque Ansari, Sameer Shankar Futane, Ashfaque Ansari1 Departments of Neurosurgery, and Otolaryngology, Mahatma Gandhi Memorial Medical College and Hospital, Auranagabad, Maharashtra, India E‑mail: [email protected] 1
453
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.
9.
Delayed intraparenchymal hemorrhage following pipeline embolization device treatment for a giant recanalized ophthalmic aneurysms. J Neurointerv Surg 2012;4:e24. Phillips TJ, Wenderoth JD, Phatouros CC, Rice H, Singh TP, Devilliers L, et al. Safety of the pipeline embolization device in treatment of posterior circulation aneurysms. AJNR Am J Neuroradiol 2012;33:1225‑31. Access this article online Quick Response Code:
Website: www.neurologyindia.com PMID: *** DOI: 10.4103/0028-3886.141268
Figure 5: Catastrophic hemorrhage into the brainstem along with intraventricular hemorrhage
aneurysms amenable to more established techniques, either open or endovascular, should be promoted with caution, within an investigative, regulated environment to be able to provide accurate information about the device’s efficacy and maybe change definitively the landscape of cerebrovascular neurosurgery.
Ashish Kumar1,2, Victor Yang2, Leodante Dacosta2 1
Department of Neurosurgery, Nizam’s Institute of Medical Sciences, Hyderabad, Andhra Pradesh, India, 2Division of Neurosurgery, Sunnybrook Health Sciences Centre, University of Toronto, Ontario, Canada E‑mail: [email protected]
References 1. Lylyk P, Miranda C, Ceratto R, Ferrario A, Scrivano E, Luna HR et al. Curative endovascular reconstruction of cerebral aneurysms with the pipeline embolization device: The Buenos Aires experience. Neurosurgery 2009;64:632‑42. 2. Kuzmik GA, Williamson T, Ediriwickrema A, Andeejani A, Bulsara KR. Flow diverters and a tale of two aneurysms. J Neurointerv Surg 2013;5:e23. 3. Hampton T, Walsh D, Tolias C, Fiorella D. Mural destabilization after aneurysm treatment with a flow‑diverting device: A report of two cases. J Neurointerv surg 2011;3:167‑71. 4. Dehdashti AR, Thines L, Willinsky RA, Tymianski M. Symptomatic enlargement of an occluded giant carotido‑ophthalmic aneurysm after endovascular treatment: The vasa vasorum theory. Acta Neurochir (Wien) 2009;15:1153‑8. 5. Chow M, McDougall C, O’Kelly C, Ashforth R, Johnson E, Fiorella D. Delayed spontaneous rupture of a posterior inferior cerebellar artery aneurysm following treatment with flow diversion: A clinicopathologic study. AJNR Am J Neuroradiol 2012;33:E46‑51. 6. Ding D, Starke RM, Liu KC. Microsurgical strategies following failed endovascular treatment with the pipeline embolization device: Case of a giant posterior cerebral artery aneurysm. J Cerebrovasc Endovasc Neurosurg 2014;16:26‑31. 7. Cruz JP, Chow M, O’Kelly C, Marotta B, Spears J, Montanera W, et al. Delayed ipsilateral parenchymal hemorrhage following flow diversion for the treatment of anterior circulation aneurysms. AJNR Am J Neuroradiol 2012;33:603‑8. 8. Velat GJ, Fargen KM, Lawson MF, Hoh BL, Fiorella D, Mocco J. Neurology India | Jul-Aug 2014 | Vol 62 | Issue 4
Received: 20‑05‑2014 Review completed: 01‑06‑2014 Accepted: 24‑08‑2014
Cervical spinal cord compression caused by X‑linked hypophosphatemic rickets with a novel PHEX mutation Sir, X‑linked hypophosphatemic rickets (XLH) is an uncommon inherited phosphate‑wasting disorder and is caused by the mutations in the PHEX gene. The typical features of XLH include rickets, short stature, bone pain, tooth abscesses and lower extremity deformities.[1,2] In addition to these features, calcification of entheses (tendons, ligaments, and joint capsules) is common among these patients.[3] Spinal cord compression caused by ossification of spinal ligaments, especially the ossification of the posterior longitudinal ligament (OPLL), in XLH patients is rarely reported. Here, we report the first Chinese patient of XLH with cervical spinal cord compression caused by a novel PHEX mutation. A 42‑year‑old Chinese woman presented with lower limb weakness and severe bone pain. She became wheelchair bound at the age of 38 years. Physical examination revealed short stature, bowing of legs [Figure 1a], and loss all teeth [Figure 1b]. Neurologic examination revealed spastic paraplegia in the lower limbs (motor power 1/5) with sensory loss below the neck and mute plantar response. Magnetic resonance imaging (MRI) of cervical spine [Figure 1c], done 5 years before revealed protrusion of cervical disc at C5‑C6 and OPLL with significant cord compression. However, computed tomography of the cervical spine could not be done as the patients refused to the investigation. Laboratory investigations at the time of 451
[Downloaded free from http://www.neurologyindia.com on Thursday, September 25, 2014, IP: 202.177.173.189] || Click here to download free Android application fo this journal Letters to Editor
a
c
b
d Figure 1: (a) The proband has been paralyzed to wheelchair-bound and her lower limbs were apparently bowing. (b) The proband lost almost all of her teeth. (c) T2-weighted, sagittal magnetic resonance imaging scan of the cervical spine, shows protrusion of cervical intervetebral disc at C5/C6 and the corresponding dural sac edge is significntly compressed of the proband. Spinal canal stenosis at C4-C6 could be seen and may attribute to ossification of the posterior longitudinal ligament (OPLL). (d) The pedigree of the XLH family
presentation revealed low serum phosphate 0.62 mmol/L (normal: 0.97-1.62 mmol/L), normal serum calcium 2.37 mmol/L (normal: 2.05-2.60 mmol/L), elevated alkaline phosphatase 218 U/L (normal: 30-140 U/L), elevated serum parathyroid hormone 81.49 pg/ml (normal: 15.00-65.00 pg/ml), normal 25‑hydroxy vitamin 48.8 pmol/L (normal, 35-150 pmol/L). These findings supported the clinical diagnosis of XLH. Family pedigree showed five other living affected members [Figure 1d]. However, none of them has neurological deficits. Genetic screening was done after written informed consent. Sanger sequencing of PHEX gene identified a novel missense mutation c. 1643 T > C, p.Ile548Thr in exon 15 [Figure 2a]. The mutation was not recorded by the HGMD (http://www.hgmd.cf.ac.uk) or PHEX mutation database (http://www.phexdb.mcgill.ca). The mutation was co‑segregated in the family and was absent in 100 matched chromosomes. The mutation resulted in the substitution of highly conserved PHEX amino acids in different 24 species [Figure 2b] and was predicted to be probably damaging by PolyPhen analysis software. All of these suggested that this mutation was the causative mutation in this family. 452
a
b Figure 2: Mutational analysis and evolutionary conservation of the residues p.548. (a) A missense mutation, c.1643T>C in exon 15 of the PHEX gene, was found. (b) The residue (p.548), which is marked in the figure, is highly conserved
Acknowledgment This work was supported by the National Natural Science Foundation of China (Proj. No. 81371266 and 30973221) and the Program for Zhejiang Leading Team of Science and Technology Innovation (Proj. No. 2010R50049‑04). Neurology India | Jul-Aug 2014 | Vol 62 | Issue 4
[Downloaded free from http://www.neurologyindia.com on Thursday, September 25, 2014, IP: 202.177.173.189] || Click here to download free Android application fo this journal Letters to Editor
Fei Xie*, Zhi-dong Cen*, Li-li Chen1, Wei Luo Departments of Neurology, and 1Stomatology, The Second Affiliated Hospital, School of Medicine, Zhejiang University, Hangzhou, P. R. China E‑mail: [email protected] *These authors contributed equally to this work and should be considered co-first authors
References 1. Econs MJ, McEnery PT. Autosomal dominant hypophosphatemic rickets/osteomalacia: Clinical characterization of a novel renal phosphate‑wasting disorder. J Clin Endocrinol Metab 1997;82:674‑81. 2. Gaucher C, Walrant‑Debray O, Nguyen TM, Esterle L, Garabedian M, Jehan F. PHEX analysis in 118 pedigrees reveals new genetic clues in hypophosphatemic rickets. Hum Genet 2009;125:401‑11. 3. Polisson RP, Martinez S, Khoury M, Harrell RM, Lyles KW, Friedman N, et al. Calcification of entheses associated with X‑linked hypophosphatemic osteomalacia. N Engl J Med 1985;313:1‑6. Access this article online Quick Response Code:
Website: www.neurologyindia.com PMID: *** DOI: 10.4103/0028-3886.141271
Received: 04‑06‑2014 Review completed: 05‑06‑2014 Accepted: 24‑08‑2014
Endoscopic cure for post‑traumatic pneumocephalus: When air hits the brain, treatment may not be the same Sir, The causes and management of tension pneumocephalus have been well discussed. [1] Skull base endoscopy is also an often cited cause of pneumocephalus. [2] Herein, we describe an innovative way of treatment of post‑traumatic pneumocephalus using endoscopic frontal sinus packing. A 23‑year‑old man presented with recent onset left side progressive hemiparesis following a head injury three months back. Neurologic examination revealed left hemiparesis with motor power of 3/5. There was no cerebrospinal fluid (CSF) rhinorrhea. Computer
Neurology India | Jul-Aug 2014 | Vol 62 | Issue 4
tomography (CT) scans done at the time of injury showed bifrontal fracture with right frontal contusions. CT scan done at the time of present admission showed right frontal pneumocephalus probably secondary to fractured posterior wall of frontal sinus causing mass effect leading to subfalcine herniation. He underwent endoscopic frontal sinus obliteration using autogenic fat and fascial graft following which his hemiparesis improved significantly. Postoperative CT scan showed complete resolution of pneumocephalus and the mass effect. At the time of discharge he was independently ambulant [Figure 1]. Appearance of delayed pneumocephalus was suggestive of persistent ingress of air. The significant and expanding volume of air was suggestive of uncompensated absorption by brain parenchyma. The presence of likely “Dandy’s ball valve mechanism” was thought of, which was leading to progressive accumulation without a significant egress. [1] The fractured posterior wall of frontal sinus was probably acting as a conduit for air after each inhalation. Based on the assumptions we decided to break this vicious cycle by endoscopically sealing off the frontal sinus. As soon as the constant ingress of air stopped the entrapped air got absorbed thereby reducing the stretch on precentral motor fibers resulting in quick recovery of hemiparesis. Various described methods of treating pneumocephalus range from simple twist drill or burr hole to craniotomies.[3] There was one report mentioning use of nasal endoscopic incision of pericranial graft to release tension pneumocephalus developed after anterior skull base surgery for esthesioneuroblastoma.[4] Most of these strategies are directed at providing new exit point of pneumocephalus. The present case is unique as it was treated with minimally invasive endoscopic method hitting the root cause of disease. It avoided the complications of extensive craniotomy. The endoscopic skull base surgeon always harbored the fear of post procedural pneumocephalus, however, the use of same tool for its treatment has not been described earlier.[2] The entire surgical science revolves around the philosophy of “treatment of the cause” and finding minimally invasive approaches for the same.
Ishtyaque Ansari, Sameer Shankar Futane, Ashfaque Ansari1 Departments of Neurosurgery, and Otolaryngology, Mahatma Gandhi Memorial Medical College and Hospital, Auranagabad, Maharashtra, India E‑mail: [email protected] 1
453
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.
