Case Reports in Neurological Medicine The latest articles from Hindawi Publishing Corporation © 2015 , Hindawi Publishing Corporation . All rights reserved. Endoscopic Transnasal Approach for Cholesterol Granuloma of the Petrous Apex Tue, 21 Jul 2015 09:56:23 +0000 Cholesterol granulomas are rare round or ovoid cysts. They contain cholesterol crystals surrounded by foreign bodies of giant cells and are characterized by chronic inflammation. Large cholesterol granuloma can compress surrounding tissue especially cranial nerves. There are several types of surgery for the resection of cholesterol granuloma. We describe 4 cases of cholesterol granuloma operated on via transnasal endoscopic approach. In this report, we describe radiologic and pathologic features of this lesion and explain the advantages and disadvantages of transsphenoidal endoscopic approach for these rare lesions. Mohammad Samadian, Nader Akbari Dilmaghani, Navid Ahmady Roozbahany, Navid Farzin, and Mohammad Bahadoram Copyright © 2015 Mohammad Samadian et al. All rights reserved. Transient Global Amnesia as the First Clinical Symptom for Malignant B-Cell Lymphoma with Central Nervous System Involvement Tue, 07 Jul 2015 05:50:45 +0000 We present the case of an elderly male who was diagnosed with transient global amnesia (TGA), only to be diagnosed with B-cell lymphoma with central nervous system involvement a few weeks later. This is the first ever case reported in literature with lymphoma presenting as TGA. Literature review and pertinent points regarding high-yield imaging protocol for presumed TGA patients are discussed. Atif Zafar, Ghulam Ishaq Khan, Sahrish Abdin, and Muhammad Taimoor Khan Copyright © 2015 Atif Zafar et al. All rights reserved. Eosinophilic Granulomatosis with Polyangiitis Presenting as Acute Polyneuropathy Mimicking Guillain-Barre Syndrome Tue, 23 Jun 2015 13:04:35 +0000 Eosinophilic granulomatosis with polyangiitis (EGPA) is a small-vessel vasculitis associated with antineutrophil cytoplasmic antibodies (ANCAs) which commonly affects the peripheral nervous system. A 38-year-old female with a history of asthma presented with a 2-week history of bilateral lower extremity paresthesias that progressed to symmetric ascending paralysis. Nerve conduction studies could not rule out Guillain-Barre syndrome (GBS) and plasmapheresis was considered. Her blood work revealed marked eosinophilia (>50%), she had purpuric lesions in her legs, and a head magnetic resonance image showed evidence of pansinusitis. Coupled with a history of asthma we suspected EGPA-associated neuropathy and started steroid treatment. The patient showed rapid and significant improvement. ANCAs were later reported positive. ANCA-associated vasculitides present most often as mononeuritis multiplex, but they can mimic GBS and should always be considered in the differential diagnosis, since the treatment strategies for these conditions are radically different. Carlos R. Camara-Lemarroy, Adrian Infante-Valenzuela, Hector J. Villareal-Montemayor, Carlos A. Soto-Rincon, Javier A. Davila-Olalde, and Hector J. Villareal-Velazquez Copyright © 2015 Carlos R. Camara-Lemarroy et al. All rights reserved. Propranolol for Paroxysmal Sympathetic Hyperactivity with Lateralizing Hyperhidrosis after Stroke Thu, 18 Jun 2015 11:26:40 +0000 Brain injury can lead to impaired cortical inhibition of the hypothalamus, resulting in increased sympathetic nervous system activation. Symptoms of paroxysmal sympathetic hyperactivity may include hyperthermia, tachycardia, tachypnea, vasodilation, and hyperhidrosis. We report the case of a 41-year-old man who suffered from a left middle cerebral artery stroke and subsequently developed central fever, contralateral temperature change, and hyperhidrosis. His symptoms abated with low-dose propranolol and then returned upon discontinuation. Restarting propranolol again stopped his symptoms. This represents the first report of propranolol being used for unilateral dysautonomia after stroke. Propranolol is a lipophilic nonselective beta-blocker which easily crosses the blood-brain barrier and may be used to treat paroxysmal sympathetic hyperactivity. Jason W. Siefferman and George Lai Copyright © 2015 Jason W. Siefferman and George Lai. All rights reserved. Carotid Endarterectomy in a Patient with Posterior Cerebral Artery Infarction: Influence of Fetal Type PCA on Atypical Clinical Course Wed, 10 Jun 2015 12:23:32 +0000 Fetal type PCA may positively affect clinical outcome in patients with ischemic stroke such as protection of a reserve blood flow capacity as well as negative effect on clinical outcome such as certain atypical pathological manifestations. We presented a patient with a posterior cerebral artery territory infarction due to an unexpected etiology as stenosis of internal carotid artery (ICA) with existence of fetal type PCA. Mehmet Kolukısa, Azize Esra Gürsoy, Gülşen Kocaman, Hümeyra Dürüyen, Hüseyin Toprak, and Talip Asil Copyright © 2015 Mehmet Kolukısa et al. All rights reserved. A Case of Acute Disseminated Encephalomyelitis in a Middle-Aged Adult Tue, 09 Jun 2015 16:29:10 +0000 Objectives. Acute disseminated encephalomyelitis (ADEM) is an inflammatory demyelinating disorder that is often preceded by infection or recent vaccination. Encephalopathy and focal neurological deficits are usually manifest several weeks after a prodromal illness with rapidly progressive neurologic decline. ADEM is most commonly seen in children and young adults, in which prognosis is favorable, but very few cases have been reported of older adults with ADEM and thus their clinical course is unknown. Methods. Here we present a case of ADEM in a middle-aged adult that recovered well after treatment. Results. A 62-year-old man presented with encephalopathy and rapid neurological decline following a gastrointestinal illness. A brain MRI revealed extensive supratentorial white matter hyperintensities consistent with ADEM and thus he was started on high dose intravenous methylprednisolone. He underwent a brain biopsy showing widespread white matter inflammation secondary to demyelination. At discharge, his neurological exam had significantly improved with continued steroid treatment and four months later, he was able to perform his ADLs. Conclusions. This case of ADEM in a middle-aged adult represents an excellent response to high dose steroid treatment with a remarkable neurological recovery. Thus it behooves one to treat suspected cases of ADEM in an adult patient aggressively, as outcome can be favorable. Nicole Mahdi, Peter A. Abdelmalik, Mark Curtis, and Barak Bar Copyright © 2015 Nicole Mahdi et al. All rights reserved. Is It a Pathogenic ATP7A Variation and Is It Menkes Disease? Sun, 07 Jun 2015 08:04:23 +0000 Zeynep Tümer Copyright © 2015 Zeynep Tümer. All rights reserved. Progressive Intracranial Vertebral Artery Dissection Presenting with Isolated Trigeminal Neuralgia-Like Facial Pain Wed, 03 Jun 2015 11:13:44 +0000 Intracranial vertebral artery dissection (IVAD) is a potentially life-threatening disease, which usually presents with ischemic stroke or subarachnoid hemorrhage. IVAD presenting with isolated facial pain is rare, and no case with isolated trigeminal neuralgia- (TN-) like facial pain has been reported. Here, we report the case of a 57-year-old male with IVAD who presented with acute isolated TN-like facial pain that extended from his left cheek to his left forehead and auricle. He felt a brief stabbing pain when his face was touched in the territory of the first and second divisions of the left trigeminal nerve. There were no other neurological signs. Magnetic resonance imaging (MRI) of the brain 7 days after onset revealed dissection of the left intracranial vertebral artery without brain infarction. The pain gradually disappeared in approximately 6 weeks, and the patient remained asymptomatic thereafter, except for a brief episode of vertigo. Follow-up MRI revealed progressive narrowing of the artery without brain infarction. This case indicates that IVAD can present with isolated facial pain that mimics TN. IVAD should be considered in the differential diagnosis of acute facial pain or TN. Tomoki Nakamizo, Takashi Koide, and Hiromichi Miyazaki Copyright © 2015 Tomoki Nakamizo et al. All rights reserved. Posterior Reversible Encephalopathy Syndrome Secondary to CSF Leak and Intracranial Hypotension: A Case Report and Literature Review Wed, 27 May 2015 13:08:42 +0000 Posterior Reversible Encephalopathy Syndrome (PRES) is a clinical neuroradiological condition characterized by insidious onset of neurological symptoms associated with radiological findings indicating posterior leukoencephalopathy. PRES secondary to cerebrospinal fluid (CSF) leak leading to intracranial hypotension is not well recognized etiology of this condition. Herein, we report a case of PRES that occurred in the setting of CSF leak due to inadvertent dural puncture. Patient underwent suturing of the dural defect. Subsequently, his symptoms resolved and a repeated brain MRI showed resolution of brain lesions. The pathophysiology and mechanistic model for developing PRES in the setting of intracranial hypotension were discussed. We further highlighted the importance of tight blood pressure control in patients with CSF leak and suspected intracranial hypotension because they are more vulnerable to develop PRES with normal or slightly elevated bleed pressure values. Tariq Hammad, Alison DeDent, Rami Algahtani, Yaseen Alastal, Lawrence Elmer, Azedine Medhkour, Fadi Safi, and Ragheb Assaly Copyright © 2015 Tariq Hammad et al. All rights reserved. Stiff Person Syndrome: A Rare Neurological Disorder, Heterogeneous in Clinical Presentation and Not Easy to Treat Wed, 27 May 2015 11:20:40 +0000 Background. Stiff person syndrome (SPS) is a rare neurological disorder characterized by progressive rigidity of axial and limb muscles associated with painful spasms. SPS can be classified into classic SPS, paraneoplastic SPS, and SPS variants. Its underlying pathogenesis is probably autoimmune, as in most cases antibodies against glutamic acid decarboxylase (GAD) are observed. Similarly, paraneoplastic SPS is usually linked to anti-amphiphysin antibodies. Treatment is based on drugs enhancing gamma-aminobutyric acid (GABA) transmission and immunomodulatory agents. Case Series. Patient 1 is a 45-year-old male affected by the classic SPS, Patient 2 is a 73-year-old male affected by paraneoplastic SPS, and Patient 3 is a 68-year-old male affected by the stiff limb syndrome, a SPS variant where symptoms are confined to the limbs. Symptoms, diagnostic findings, and clinical course were extremely variable in the three patients, and treatment was often unsatisfactory and not well tolerated, thus reducing patient compliance. Clinical manifestations also included some unusual features such as recurrent vomiting and progressive dysarthria. Conclusions. SPS is a rare disorder that causes significant disability. Because of its extensive clinical variability, a multitask and personalized treatment is indicated. A clearer understanding of uncommon clinical features and better-tolerated therapeutic strategies are still needed. Susanne Buechner, Igor Florio, and Loredana Capone Copyright © 2015 Susanne Buechner et al. All rights reserved. Posterior Reversible Encephalopathy Syndrome due to High Dose Corticosteroids for an MS Relapse Tue, 26 May 2015 06:29:40 +0000 Increased blood pressure is a known adverse effect associated with corticosteroids but little is published regarding the risk with the high doses used in multiple sclerosis (MS). A 53-year-old female with known relapsing remitting MS presented with a new brainstem relapse. Standard of care treatment for an acute MS relapse, 1250 mg of oral prednisone for 5 days, was initiated. She developed an occipital headache and dizziness and felt generally unwell. These symptoms persisted after treatment was complete. On presentation to medical attention, her blood pressure was 199/110 mmHg, although she had no history of hypertension. MRI changes were consistent with posterior reversible encephalopathy syndrome (PRES), demonstrating abnormal T2 signal in both thalami, the posterior occipital and posterior parietal white matter with mild sulcal effacement. As her pressure normalized with medication, her symptoms resolved and the MRI changes improved. No secondary cause of hypertension was found. This is the first reported case of PRES secondary to high dose corticosteroid use for an MS relapse without a history of hypertension and with no other secondary cause of hypertension identified. This rare complication should be considered in MS patients presenting with a headache or other neurological symptoms during treatment for a relapse. Sarah A. Morrow, Robina Rana, Donald Lee, Terri Paul, and Jeffrey L. Mahon Copyright © 2015 Sarah A. Morrow et al. All rights reserved. The Quantitative Measurement of Reversible Acute Depression after Subthalamic Deep Brain Stimulation in a Patient with Parkinson Disease Mon, 18 May 2015 13:55:48 +0000 Background. Depression is the most commonly reported mood symptom affecting 2–8% of patients after deep brain stimulation (DBS). Usually, symptoms develop gradually; however there have been cases of reproducible events that the mood symptoms were elicited within seconds to minutes after stimulation and were immediately reversible upon cessation of the stimulus. In the current study, we applied a self-reported questionnaire to assess the patient’s mood state. Objective. To objectively measure the reversible acute depression induced by DBS in a patient with Parkinson disease (PD). Methods. A statistically validated Spanish version of the Beck Depression Inventory Short Form (BDI-SF) was used. The questionnaire was administered three times. Results. The patient became acutely depressed within ninety seconds of monopolar stimulation on the right side. His symptoms resolved immediately after changing the setting to bipolar stimulation. The BDI-SF scores during stimulation off, on, and off again were 15, 19, and 6, respectively. Conclusions. The BDI-SF scores increased during stimulation and decreased after cessation. This is consistent with a reversible depressive state. The poststimulation BDI-SF score decreased to less than half of the baseline score. This may suggest that the depression was more severe than the patient was able to express during the stimulation. Daniel B. Simmons and Khashayar Dashtipour Copyright © 2015 Daniel B. Simmons and Khashayar Dashtipour. All rights reserved. Lipoma in the Corpus Callosum Presenting with Epileptic Seizures Associated with Expanding Perifocal Edema: A Case Report and Literature Review Mon, 11 May 2015 11:49:13 +0000 This report describes a rare case of a patient with lipoma presenting with epileptic seizures associated with expanding perifocal edema. The patient was a 48-year-old man who presented with loss of consciousness and convulsions. Magnetic resonance imaging (MRI) revealed a calcified mass in the corpus callosum with perifocal edema causing mass effect. An interhemispheric approach was used to biopsy the mass lesion. Histological examination revealed typical adipose cells, along with hamartomatous components. These components contained neurofilament and S-100-positive structures showing marked calcification. Fibrous cells immunoreactive for -smooth muscle actin and epithelial membrane antigen proliferated with focal granulomatous inflammatory changes. MIB-1 index was approximately 5% in immature cells observed in granulomatous areas. We thus suspected a coexisting neoplastic component. The residual lesion persisted in a dormant state for 2 years following biopsy. Surgical resection of a lipoma is extremely difficult and potentially dangerous. However, in the present case, the lesion was accompanied by atypical, expanding, and perifocal edema. Surgical treatment was inevitable for the purpose of histological confirmation, considering differential diagnoses such as dermoid, epidermoid, and glioma. In the end, anticonvulsant therapy proved effective for controlling epileptic seizures. Michiyasu Fuga, Toshihide Tanaka, Yohei Yamamoto, Yuzuru Hasegawa, Yuichi Murayama, and Junko Takahashi-Fujigasaki Copyright © 2015 Michiyasu Fuga et al. All rights reserved. Cerebellum as Initial Site of Distant Metastasis from Papillary Carcinoma of Thyroid: Review of Three Cases Wed, 06 May 2015 08:45:19 +0000 Background. The cerebellum as initial site of distant metastasis from differentiated thyroid carcinoma (DTC) including papillary (PTC) and follicular thyroid carcinoma (FTC) is rare manifestation. Case Presentations. Herein, we present three cases of cerebellar metastasis (CBM) of PTC. Mean age of patients was 67 years (range: 64–72), and mean duration between initial diagnosis and CBM was 49.6 months (range: 37–61). Frequent location was left cerebellar hemisphere and was associated with hydrocephalus. All patients underwent suboccipital craniectomy, and in two patients postoperative intensity modulated radiation therapy (IMRT) was given to deliver 5000 cGy in 25 fractions to residual lesions. Patient without postoperative IMRT had cerebellar recurrence along with lung and bone metastasis after 38 months. However, two patients were found alive and free of disease at the time of last follow-up. Conclusion. CBM from PTC is a rare clinical entity and is often associated with hydrocephalus. Histopathological diagnosis is important to initiate effective treatment, which relies on multidisciplinary approach to prolong the disease-free and overall survival rates. Mutahir A. Tunio, Mushabbab Al Asiri, Khalid Hussain AL-Qahtani, and Wafa AlShakweer Copyright © 2015 Mutahir A. Tunio et al. All rights reserved. ESBL Escherichia coli Ventriculitis after Aneurysm Clipping: A Rare and Difficult Therapeutic Challenge Wed, 29 Apr 2015 11:40:15 +0000 Background. Extended spectrum beta-lactamase (ESBL) produced Escherichia coli (E. coli) ventriculitis is a rare infection of the central nervous system, with increasing rarity in the adult population. The therapeutic strategy to achieve cure may need to involve a combination of intraventricular and intravenous (IV) therapy. Objective. To describe a case of ESBL E. coli meningitis/ventriculitis in an adult and outline the antimicrobial therapy that leads to cure. Methods. We retrospectively reviewed the records of a patient admitted to the neurosurgical department for aneurysmal subarachnoid hemorrhage, who developed ESBL E. coli ventriculitis. Results. A 55-year-old female, admitted for a Fisher grade 3, World Federation of Neurological Surgeons grade 1, subarachnoid hemorrhage, developed ESBL E. coli ventriculitis requiring a combination of intraventricular gentamicin and high dose intravenous meropenem for clearance. Cerebrospinal fluid clearance occurred at 7 days after initiation of combined therapy. The patient remained shunt dependent. Conclusions. Meningitis and ventriculitis caused by ESBL E. coli species are rare and pose significant challenges to the treating physician. Early consideration for combined intraventricular and IV therapy should be made. F. A. Zeiler and J. Silvaggio Copyright © 2015 F. A. Zeiler and J. Silvaggio. All rights reserved. Ruptured Arteriovenous Malformation Presenting with Kernohan’s Notch Mon, 27 Apr 2015 14:00:41 +0000 AVMs are congenital lesions that predispose patients to intracranial hemorrhage and resultant neurological deficits. These deficits are often focal and due to the presence of local neurologic disruption from hemorrhage in the contralateral cerebral hemisphere. We present a rare case of a patient with ipsilateral neurological deficits due to Kernohan’s Notch phenomenon resulting from hemorrhage from an AVM. A 31-year-old woman with seizures underwent MR and angiographic imaging which confirmed an unruptured left parietal AVM. The patient declined treatment and presented with obtundation 4 years later. Imaging revealed an acute left parietal ICH and SDH with significant mass effect. The patient underwent emergent hemicraniectomy and hematoma evacuation. Postoperatively, she made significant improvement and was following commands contralaterally with ipsilateral hemiplegia. MR imaging revealed right Kernohan’s Notch. The patient had significant rehabilitation with neurological improvement. She eventually underwent elective embolization followed by subsequent surgical resection and bone replacement. Three years from the initial hemorrhage, the patient had only mild left-sided weakness and ambulates without assistance. A false localizing sign, Kernohan’s Notch phenomenon, should be considered in the setting of AVM hemorrhage with paradoxical motor impairment and can be identified through MRI. Christopher F. Dibble, Michael P. Wemhoff, Tarik Ibrahim, Deanna Sasaki-Adams, Sten Solander, and Anand V. Germanwala Copyright © 2015 Christopher F. Dibble et al. All rights reserved. Hypoglycemia-Induced Hemiparesis in a Diabetic Woman after Childbirth Thu, 23 Apr 2015 13:07:34 +0000 A 24-year-old female with type 1 diabetes mellitus presented with hemiparesis induced by hypoglycemia. She was hospitalized because she has noticed a weakness of her right hand and leg three days after childbirth. On physical examination she had an expressive dysphasia and right side hemiparesis with facial drop. Hypoglycemia is rarely associated with hemiparesis and it is often overlooked, especially when it happens in patients at higher risk of other diseases frequently associated with hemiparesis. Although sporadical cases of hypoglycemia-induced hemiparesis were reported, the clear pathophysiology behind this is not well determined. However, any individual case is important in order to increase the awareness of hypoglycemia as an important etiology of this condition. Vera Kukaj, Fisnik Jashari, Dren Boshnjaku, Enis Istrefi, and Pranvera Ibrahimi Copyright © 2015 Vera Kukaj et al. All rights reserved. Cavernous Hemangioma of the Skull and Meningioma: Association or Coincidence? Thu, 16 Apr 2015 12:19:23 +0000 Intraosseous cavernous hemangiomas of the skull are rare. Meningiomas are quite frequently encountered in a neurosurgical practice. The association between these two entities is nevertheless very uncommon. The authors present a case of a 72-year-old woman suffering from headache. The MRI showed a parietal meningioma with adjacent thick bone. The meningioma and the bone were removed. The histological examination confirmed the diagnosis of meningioma and revealed a cavernoma of the skull. The relationship between the lesions suggests more than a coincidental association. Several hypotheses are proposed to explain common causal connections. M. Kilani, M. Darmoul, F. Hammedi, A. Ben Nsir, and M. N. Hattab Copyright © 2015 M. Kilani et al. All rights reserved. Neuralgia of the Glossopharyngeal Nerve in a Patient with Posttonsillectomy Scarring: Recovery after Local Infiltration of Procaine—Case Report and Pathophysiologic Discussion Thu, 16 Apr 2015 06:24:35 +0000 We describe a patient with a three-year history of severe progressive left-sided glossopharyngeal neuralgia (GPN) that failed to adequately respond to various drug therapies. The application of lidocaine spray to the posterior pharyngeal wall provided no more than short-term relief. Apart from a large hypertrophic tonsillectomy scar on the left side all clinical and radiologic findings were normal. In terms of therapeutic local anaesthesia, the hypertrophic tonsillectomy scar tissue was completely infiltrated with the local anaesthetic (LA) procaine 1%. The patient has been almost completely pain-free ever since, and the lidocaine spray is no longer needed. Six weeks after the first treatment a repeat infiltration of the tonsillectomy scar led to the complete resolution of all symptoms. The patient has become totally symptom-free without the need to take any medication now for two and a half years. This is the first report of a successful therapeutic infiltration of a tonsillectomy scar using an LA in a patient with GPN that has been refractory to medical treatment for several years. A possible explanation may be that the positive feedback loop maintaining neurogenic inflammation is disrupted and “sympathetically maintained pain” resolved by LA infiltration. L. Fischer, S. M. Ludin, K. Puente de la Vega, and M. Sturzenegger Copyright © 2015 L. Fischer et al. All rights reserved. Severe Hyperammonemia in Late-Onset Ornithine Transcarbamylase Deficiency Triggered by Steroid Administration Thu, 09 Apr 2015 09:29:26 +0000 Ornithine transcarbamylase deficiency (OTCD) is a rare X-linked disorder of urea synthesis leading to hyperammonemia. Several late-onset cases have been reported. Undiagnosed and untreated patients are at the risk of death or suffering from irreversible sequelae. We describe a 56-year-old patient who presented with acute encephalopathy after steroid treatment. Hyperammonemia due to OTCD was diagnosed and a mutation was found. This allowed us to diagnose two other family members with unexplained encephalopathy who are now asymptomatic on a low-protein diet. OTCD should be considered in any patient with hyperammonemic encephalopathy and immediate treatment should be given to avoid a fatal outcome. We emphasize the need to examine other family members if the diagnosis is confirmed, in order to prevent further life-threatening episodes of encephalopathy or neonatal coma of newborn. Jordi Gascon-Bayarri, Jaume Campdelacreu, Jordi Estela, and Ramon Reñé Copyright © 2015 Jordi Gascon-Bayarri et al. All rights reserved. Extraspinal Type I Dural Arteriovenous Fistula with a Lumbosacral Lipomyelomeningocele: A Case Report and Review of the Literature Wed, 08 Apr 2015 14:15:41 +0000 Seven cases of adult spinal vascular malformations presenting in conjunction with spinal dysraphism have been reported in the literature. Two of these involved male patients with a combined dural arteriovenous fistula (DAVF) and lipomyelomeningocele. The authors present the third case of a patient with an extraspinal DAVF and associated lipomyelomeningocele in a lumbosacral location. A 58-year-old woman with rapid decline in bilateral motor function 10 years after a prior L4-5 laminectomy and cord detethering for diagnosed tethered cord underwent magnetic resonance imaging showing evidence of persistent cord tethering and a lipomyelomeningocele. Diagnostic spinal angiogram showed a DAVF with arterial feeders from bilateral sacral and the right internal iliac arteries. The patient underwent Onyx embolization of both feeding right and left lateral sacral arteries. At 6-month follow-up, MRI revealed decreased flow voids and new collateralized supply to the DAVF. The patient underwent successful lipomyelomeningocele exploration, resection, AV fistula ligation, and cord detethering. This report discusses management of this patient as well as the importance of endovascular embolization followed by microsurgery for the treatment of cases with combined vascular and dysraphic anomalies. Khaled M. Krisht, Michael Karsy, Wilson Z. Ray, and Andrew T. Dailey Copyright © 2015 Khaled M. Krisht et al. All rights reserved. Unusual Neurologic Manifestations of a Patient with Cyanotic Congenital Heart Disease after Phlebotomy Thu, 02 Apr 2015 18:25:37 +0000 Secondary erythrocytosis in cyanotic congenital heart disease (CCHD) is a compensatory response to chronic hypoxia which should be managed with caution. CCHD patients, who have compensated erythrocytosis but do not manifest significant neurologic symptoms, may experience secondary life-threatening complications such as stroke in case of inappropriate phlebotomy. This study reports a young man with CCHD who developed frequently repeated transient neurologic deficits with various presentations after one session of phlebotomy. The symptoms resolved a few days after the hematocrit (Hct) level returned to the prephlebotomy level. Hooman Salimipour, Somayeh Mehdizadeh, Reza Nemati, Mohamad Reza Pourbehi, Gholam Reza Pourbehi, and Majid Assadi Copyright © 2015 Hooman Salimipour et al. All rights reserved. Resolution of Internal Carotid Dissection with Middle Cerebral Artery Occlusion in Pregnancy Mon, 30 Mar 2015 07:03:37 +0000 Introduction. Cervical artery dissection (CAD) is a common cause of stroke in younger patients. While the incidence of stroke in pregnancy is increasing, CAD remains a rare cause of ischemic stroke in the pregnant population, with only 30 cases described in the literature, most in the postpartum period. Methods. The case of a pregnant patient at 18 weeks of gestation presenting with CAD and ischemic stroke following intercourse is discussed. Discussion. CAD results from an intimal tear in the carotid artery, allowing accumulation of blood in the vessel wall. Stroke results from embolization of thrombogenic material in the wall. Etiology includes minor trauma, connective tissue disorders, or anatomic variations of the carotid artery. Most patients present with headache and/or neck pain, while ischemic symptoms are seen in at least 50% of patients. In the pregnant population, imaging with MRI or MRA of the head and neck aids in diagnosis. Once the diagnosis is made, patients are treated with either anticoagulation or antiplatelet medications. The optimal treatment in both pregnant and nonpregnant patients has not been well-studied. Conclusion. CAD is an important diagnosis to consider in a pregnant patient with persistent headache, especially if neurological symptoms are present. Imaging should be quickly obtained so treatment can be initiated. Nicole Ulrich, Amanda Johnson, Dominique Jodry, Chi Dola, Sheryl Martin-Schild, and Ramy El Khoury Copyright © 2015 Nicole Ulrich et al. All rights reserved. Idiopathic Generalized Epilepsy and Hypokalemic Periodic Paralysis in a Family of South Indian Descent Sun, 29 Mar 2015 05:47:27 +0000 Inherited channelopathies are a heterogeneous group of disorders resulting from dysfunction of ion channels in cellular membranes. They may manifest as diseases affecting skeletal muscle contraction, the conduction system of the heart, nervous system function, and vision syndromes. We describe a family of South Indian descent with hypokalemic periodic paralysis in which four members also have idiopathic generalized epilepsy. Hypokalemic periodic paralysis is a genetically heterogeneous channelopathy that has been linked to mutations in genes encoding three ion channels CACNIAS, SCN4A, and KCNJ2 predominantly. Although data on specific gene in idiopathic generalized epilepsy is relatively scarce, mutations of voltage gated sodium channel subunit genes (CACNB4) and nonsense mutations in voltage gated calcium channels (CACNA1A) have been linked to idiopathic generalized epilepsy in two families. We speculate that gene mutations altering the ability of the beta subunit to interact with the alpha subunit of the CaV1.1 channel and mutations in the pore-forming potassium channel subunit may be possible explanations for the combined manifestation of both diseases. Functional analysis of voltage gated calcium channel and other ion channels mutations may provide additional support and insight for the causal role of these mutations. The understanding of mutations in ion-channel genes will lead to improved diagnosis and treatment of such inherited channelopathies. Muthiah Subramanian, N. Senthil, and S. Sujatha Copyright © 2015 Muthiah Subramanian et al. All rights reserved. Minor Trauma Causing Stroke in a Young Athlete Thu, 26 Mar 2015 12:38:54 +0000 A 17-year-old Caucasian male presented with sudden dizziness, ataxia, vertigo, and clumsiness lasting for a couple of hours. He had a subtle trauma during a wrestling match 2 days prior to the presentation. A CT Angiogram (CTA) and MRI showed left vertebral artery dissection (VAD). The patient was treated with anticoagulation with heparin drip in the ICU. The patient was discharged home on the third day on Lovenox-warfarin bridging. This case underscores the importance of considering VAD as a differential diagnosis in patients with sports-related symptoms especially in activities entailing hyperextension or hyperrotation of neck. Due to a varied latent period, often minor underlying trauma, and subtle presentation, a low index of suspicion is warranted in timely diagnosis and treatment of VAD. Considering recent evidence in treatment modality, either antiplatelet therapy or anticoagulation may be used for treatment of VAD. Vineet Gupta, Naveen Dhawan, and Jaya Bahl Copyright © 2015 Vineet Gupta et al. All rights reserved. Relapsing Remitting Multiple Sclerosis in X-Linked Charcot-Marie-Tooth Disease with Central Nervous System Involvement Wed, 25 Mar 2015 11:34:55 +0000 We report a patient with relapsing remitting multiple sclerosis (MS) and X-linked Charcot-Marie-Tooth disease (CMTX), carrying a GJB1 mutation affecting connexin-32 (c.191G>A, p. Cys64Tyr) which was recently reported by our group. This is the third case report of a patient with CMTX developing MS, but it is unique in the fact that other family members carrying the same mutation were found to have asymptomatic central nervous system (CNS) involvement (diffuse white matter hyperintensity on brain MRI and extensor plantars). Although this may be a chance association, the increasing number of cases with CMTX and MS, especially with mutations involving the CNS, may imply some causative effect and provide insights into MS pathogenesis. Georgios Koutsis, Georgia Karadima, Paraskewi Floroskoufi, Maria Raftopoulou, and Marios Panas Copyright © 2015 Georgios Koutsis et al. All rights reserved. GH-Producing Pituitary Adenoma and Concomitant Rathke’s Cleft Cyst: A Case Report and Short Review Wed, 25 Mar 2015 08:32:44 +0000 Concomitant pituitary adenoma (PA) and Rathke’s cleft cyst (RCC) are rare. In some cases, such PA is known to produce pituitary hormones. A 53-year-old man was admitted to our hospital with a diagnosis of lacunar infarction in the left basal ganglia. Magnetic resonance imaging (MRI) incidentally showed a suprasellar mass with radiographic features of RCC. When he consulted with a neurosurgical outpatient clinic, acromegaly was suspected based on his appearance. A diagnosis of growth hormone- (GH-) producing PA was confirmed from hormonal examinations and additional MRI. Retrospectively, initial MR images also showed intrasellar mass that is compatible with the diagnosis of PA other than suprasellar RCC. The patient underwent endonasal-endoscopic removal of the PA. Since we judged that the RCC of the patient was asymptomatic, only the PA was completely removed. The postoperative course of the patient was uneventful and GH levels gradually normalized. Only 40 cases of PA with concomitant RCC have been reported to date, including 13 cases of GH-producing PA. In those 13 cases, RCC tended to be located in the sella turcica, and suprasellar RCC like this case appears rare. In a few cases, concomitant RCCs were fenestrated, but GH levels normalized postoperatively as in the cases without RCC fenestration. If radiographic imaging shows typical RCC, and PA is not obvious at first glance, the possibility of concomitant PA still needs to be considered. In terms of treatment, removal of the RCC is not needed to achieve hormone normalization. Ryota Tamura, Satoshi Takahashi, Katsura Emoto, Hideaki Nagashima, Masahiro Toda, and Kazunari Yoshida Copyright © 2015 Ryota Tamura et al. All rights reserved. JC Virus PCR Detection Is Not Infallible: A Fulminant Case of Progressive Multifocal Leukoencephalopathy with False-Negative Cerebrospinal Fluid Studies despite Progressive Clinical Course and Radiological Findings Thu, 12 Mar 2015 09:31:15 +0000 We describe a case with a false-negative PCR-based analysis for JC virus in cerebrospinal fluid (CSF) in a patient with clinical and radiological findings suggestive of progressive multifocal leukoencephalopathy (PML) who was on chronic immunosuppressive therapy for rheumatoid arthritis. Our patient developed rapidly progressive global decline with clinical and radiographic findings suggestive of PML, but JC virus PCR in CSF was negative. The patient passed away 3 months from the onset of her neurological symptoms. Autopsy confirmed the diagnosis of PML with presence of JC-polyoma virus by immunohistochemical staining. This case highlights the potential of false-negative JC virus PCR in CSF when radiographic and clinical features are suggestive of “possible PML.” We review the plausible causes of potential false-negative CSF results and suggest that when the clinical presentation is suspicious for PML repeat CSF analysis utilizing ultrasensitive PCR assay and subsequent brain biopsy should be considered if CSF remains negative. Additionally, appropriate exclusion of other neurologic conditions is essential. Mohamed-Ali Babi, William Pendlebury, Steven Braff, and Waqar Waheed Copyright © 2015 Mohamed-Ali Babi et al. All rights reserved. Acute Aortic Occlusion Presenting as Flaccid Paraplegia Wed, 11 Mar 2015 13:47:28 +0000 A 67-year-old male known to be hypertensive and diabetic had a sudden onset of severe low back pain and flaccid paraplegia with no sensory level or bladder affection and the distal pulsations were felt. Acute compressive myelopathy was excluded by MRI of the dorsal and lumbar spines. The nerve conduction study and CSF analysis was suggestive of acute demyelinating polyneuropathy. The patient developed ischemic changes of the lower limb and CT angiography revealed severe stenosis of the abdominal aorta and both common iliac arteries. We emphasize the importance of including acute aortic occlusion in the differential diagnosis of acute flaccid paraplegia especially in the presence of severe back pain even if the distal pulsations were felt. Ayman Kilany, Jasem Y. Al-Hashel, and Azza Rady Copyright © 2015 Ayman Kilany et al. All rights reserved. A CADASIL-Like Case with a Novel Noncysteine Mutation of the NOTCH3 Gene and Granular Deposits in the Renal Arterioles Thu, 05 Mar 2015 12:03:00 +0000 We herein report the finding of a 62-year-old male, who developed dysarthria and dysphagia, with cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy- (CADASIL-) like cerebral lesions. He also suffered from slowly progressive renal failure with the findings of granular deposits similar to electron-dense granular osmiophilic material in the renal arterioles. We found a novel heterozygous missense mutation of the NOTCH3 gene, c.4039G>C in exon 24, resulting in a p.Gly1347Arg substitution in its extracellular domain. The noncysteine substitution may underlie the pathogenesis of white matter lesions in the brain and of the chronic renal failure in the present case. Kuniyuki Nakamura, Tetsuro Ago, Akihiro Tsuchimoto, Nozomi Noda, Asako Nakamura, Toshiharu Ninomiya, Takeshi Uchiumi, Kazuhiko Tsuruya, Masahiro Kamouchi, Hiroaki Ooboshi, and Takanari Kitazono Copyright © 2015 Kuniyuki Nakamura et al. All rights reserved.