Case Reports in Neurological Medicine The latest articles from Hindawi Publishing Corporation © 2014 , Hindawi Publishing Corporation . All rights reserved. Congenital Insensitivity to Pain: A Case Report and Review of the Literature Thu, 18 Sep 2014 00:00:00 +0000 Congenital insensitivity to pain (CIP) is a rare autosomal recessive genetic disease caused by mutations in the SCN9A gene. We report a patient with the clinical features consistent with CIP in whom we detected a novel homozygous G2755T mutation in exon 15 of this gene. Routine electrophysiological studies are typically normal in patients with CIP. In our patient, these studies were abnormal and could represent the consequences of secondary complications of cervical and lumbosacral spine disease and associated severe Charcot’s joints. Leema Reddy Peddareddygari, Kinsi Oberoi, and Raji P. Grewal Copyright © 2014 Leema Reddy Peddareddygari et al. All rights reserved. Acute Psychosis Associated with Subcortical Stroke: Comparison between Basal Ganglia and Mid-Brain Lesions Thu, 18 Sep 2014 00:00:00 +0000 Acute onset of psychosis in an older or elderly individual without history of previous psychiatric disorders should prompt a thorough workup for neurologic causes of psychiatric symptoms. This report compares and contrasts clinical features of new onset of psychotic symptoms between two patients, one with an acute basal ganglia hemorrhagic stroke and another with an acute mid-brain ischemic stroke. Delusions and hallucinations due to basal ganglia lesions are theorized to develop as a result of frontal lobe dysfunction causing impairment of reality checking pathways in the brain, while visual hallucinations due to mid-brain lesions are theorized to develop due to dysregulation of inhibitory control of the ponto-geniculate-occipital system. Psychotic symptoms occurring due to stroke demonstrate varied clinical characteristics that depend on the location of the stroke within the brain. Treatment with antipsychotic medications may provide symptomatic relief. Aaron McMurtray, Ben Tseng, Natalie Diaz, Julia Chung, Bijal Mehta, and Erin Saito Copyright © 2014 Aaron McMurtray et al. All rights reserved. Neurenteric Cyst of the Area Postrema Tue, 16 Sep 2014 06:23:32 +0000 Neurenteric cysts are CNS lesions most frequently occurring in the spinal cord. Intracranial neurenteric cysts are rarer, typically presenting with headache, mass effect, or location-specific symptoms. The area postrema is known as the emetic center of the brain; lesions can cause nausea and vomiting. Our case, featuring a neurenteric cyst of the area postrema, illustrates the importance of considering a neurological etiology for nonspecific symptoms that otherwise elude explanation. Our patient presented with acute decompensated hydrocephalus upon exploratory abdominal laparoscopy for unresolving abdominal pain. The patient had an eight-month history of unexplained intermittent nausea, vomiting, and abdominal pain. These bouts increased in frequency during the weeks before acute presentation, prompting exploratory abdominal laparoscopy. The acute decompensation was managed by ventriculostomy, and cranial MRI revealed a cystic mass by the floor of the fourth ventricle. After the patient stabilized and returned to neurological baseline, suboccipital craniectomy and resection were performed. The mass was histologically identified as a neurenteric cyst. The patient was free from neurological complaints at one-year follow-up, indicating that the successful resection of the area postrema-associated neurenteric cyst resolved her previous symptoms. Thus, some intracranial lesions can masquerade as nonspecific symptoms, presenting a challenge to accurate diagnosis. Claire M. Miller, Bonnie H. Wang, Seong-Jin Moon, Eric Chen, and Huan Wang Copyright © 2014 Claire M. Miller et al. All rights reserved. Optic Nerve Injury in a Patient with Chronic Allergic Conjunctivitis Mon, 15 Sep 2014 08:18:11 +0000 Manipulation of the optic nerve can lead to irreversible vision changes. We present a patient with a past medical history of skin allergy and allergic conjunctivitis (AC) who presented with insidious unexplained unilateral vision loss. Physical exam revealed significant blepharospasm, mild lid edema, bulbar conjunctival hyperemia, afferent pupillary defect, and slight papillary hypertrophy. Slit lamp examination demonstrated superior and inferior conjunctival scarring as well as superior corneal scarring but no signs of external trauma or neurological damage were noted. Conjunctival cultures and cytologic evaluation demonstrated significant eosinophilic infiltration. Subsequent ophthalmoscopic examination revealed optic nerve atrophy. Upon further questioning, the patient admitted to vigorous itching of the affected eye for many months. Given the presenting symptoms, history, and negative ophthalmological workup, it was determined that the optic nerve atrophy was likely secondary to digital pressure from vigorous itching. Although AC can be a significant source of decreased vision via corneal ulceration, no reported cases have ever described AC-induced vision loss of this degree from vigorous itching and chronic pressure leading to optic nerve damage. Despite being self-limiting in nature, allergic conjunctivitis should be properly managed as extreme cases can result in mechanical compression of the optic nerve and compromise vision. Ribhi Hazin, Christopher J. Elia, Maria Putruss, and Amanda Bazzi Copyright © 2014 Ribhi Hazin et al. All rights reserved. Video Self-Modeling Is an Effective Intervention for an Adult with Autism Wed, 03 Sep 2014 11:04:26 +0000 With the increases in size and strength that come with adulthood, challenging behaviours among those with autism spectrum disorders (ASD) can become critical. Few studies have explored behavioural interventions in adults with ASD, though recent studies have shown video self-modeling (VSM) to be effective in children with ASD. VSM involves an individual watching videos of himself demonstrating prosocial behaviours, while those behaviours are pointed out and encouraged. In the current study, VSM was used to encourage prosocial behaviours and to reduce problematic behaviour displayed by an adult with ASD. Results reveal a decrease in the tendency to invade others’ personal space and make inappropriate loud noises. VSM may be an effective intervention and improve the lives of adults with ASD. Genevieve Hin Ha Tsui and M. D. Rutherford Copyright © 2014 Genevieve Hin Ha Tsui and M. D. Rutherford. All rights reserved. Clinical Pathway in the Treatment of Nocardial Brain Abscesses following Systemic Infections Thu, 28 Aug 2014 11:22:55 +0000 Nocardial infections are commonly encountered in patients with immunocompromised states. Cerebral nocardiosis is an uncommon clinical entity, representing only 2% of all cerebral abscesses. It has a higher mortality rate, especially for multiple cerebral lesions in immunocompromised hosts following systemic infections. However, an optimal treatment policy to deal with these immunocompromised patients in Asia is still lacking. We retrospectively reviewed the subjects with nocardial brain abscesses from 2001 to 2011 at our medical center. All of them had multiple brain abscesses, underlying with immunocompromised state following systemic infections. All cases were under steroid control due to their comorbidities for more than six months. The comorbidities and misdiagnosis often lead to poor prognosis. The change in the environments of the microorganisms caused by immunosuppressive agents and multiple antibiotic uses may play an important role in this critical disorder. Aggressive craniotomy should be performed in time to avoid grievous neurological outcomes. Our conclusion is that early diagnosis and appropriate antibiotic uses should be implemented promptly, and aggressive craniotomy should be performed for nocardial brain abscesses in subjects with systemic infections under an immunocompromised status. Yun-Cong Zheng, Tse-Lun Wang, Jee-Ching Hsu, Yung-Hsing Hsu, Wen-Hsing Hsu, Chih-Liang Wang, Aij-Lie Kwan, and Chih-Lung Lin Copyright © 2014 Yun-Cong Zheng et al. All rights reserved. Cerebral Air Embolism from Angioinvasive Cavitary Aspergillosis Thu, 14 Aug 2014 11:33:36 +0000 Background. Nontraumatic cerebral air embolism cases are rare. We report a case of an air embolism resulting in cerebral infarction related to angioinvasive cavitary aspergillosis. To our knowledge, there have been no previous reports associating these two conditions together. Case Presentation. A 32-year-old female was admitted for treatment of acute lymphoblastic leukemia (ALL). Her hospital course was complicated by pulmonary aspergillosis. On hospital day 55, she acutely developed severe global aphasia with right hemiplegia. A CT and CT-angiogram of her head and neck were obtained demonstrating intravascular air emboli within the left middle cerebral artery (MCA) branches. She was emergently taken for hyperbaric oxygen therapy (HBOT). Evaluation for origin of the air embolus revealed an air focus along the left lower pulmonary vein. Over the course of 48 hours, her symptoms significantly improved. Conclusion. This unique case details an immunocompromised patient with pulmonary aspergillosis cavitary lesions that invaded into a pulmonary vein and caused a cerebral air embolism. With cerebral air embolisms, the acute treatment option differs from the typical ischemic stroke pathway and the provider should consider emergent HBOT. This case highlights the importance of considering atypical causes of acute ischemic stroke. Chen Lin, George A. Barrio, Lynne M. Hurwitz, and Peter G. Kranz Copyright © 2014 Chen Lin et al. All rights reserved. Multiple Sclerosis Presents with Psychotic Symptoms and Coexists with Hypertrophic Cardiomyopathy Wed, 13 Aug 2014 09:30:29 +0000 Multiple sclerosis (MS) is a demyelinating disease of the central nervous system. Psychiatric symptoms are not infrequent during MS, yet onset of MS with psychosis is rarely encountered. A 27-year-old Caucasian male was admitted due to numbness in his right arm and difficulty in walking. His clinical and laboratorial exams lead to the MS diagnosis. Nine months earlier, he also developed psychotic disorder, not otherwise specified (PD-NOS). His sudden onset of PD-NOS, his rapid and complete response to antipsychotics, and a relatively short interval between psychiatric and neurological signs indicate a high likelihood that PD-NOS was a manifestation of underlying MS. He also suffers from hypertrophic obstructive cardiomyopathy (HOCM). The patient’s neurological complaints were recovered with methylprednisolone (1 g/day, i.v.) given for five days. Glatiramer acetate (1 × 1 tb.s.c.) was prescribed for consolidation and, after nine months of his admission, the patient fully recovered from neurological and psychiatric complaints. Interestingly, very recent studies indicate specific alpha-actinin antibodies in MS and alpha-actinin mutations cause HOCM. Thus, concurrence of MS with HOCM can be even a new syndrome, if further genetic studies prove. Muhammed Emin Özcan, Bahri İnce, Hasan Hüseyin Karadeli, and Talip Asil Copyright © 2014 Muhammed Emin Özcan et al. All rights reserved. Multiple Sclerosis and Oligodendroglioma: An Exceptional Association Thu, 07 Aug 2014 11:06:26 +0000 The cooccurrence of multiple sclerosis (MS) and oligodendroglioma is very rare. We present a 43-year-old male patient with the diagnosis of MS lasting for 14 years who developed seizures and right hemiparesis; cerebral MRI revealed an already known extensive lesion, previously misdiagnosed as tumefactive demyelinating lesion. Cerebral biopsy leads to oligodendroglioma diagnosis, successfully treated with radiotherapy. The diagnosis of a brain tumor in a MS patient is challenging. The atypical clinical and radiological features are the key for accurate diagnosis. In such cases, a brain tumor has to be kept in mind no matter how rare this association is. Ana Teresa Carvalho, Paulo Linhares, Lígia Castro, and Maria José Sá Copyright © 2014 Ana Teresa Carvalho et al. All rights reserved. Minimally Invasive Subcortical Parafascicular Transsulcal Access for Clot Evacuation (Mi SPACE) for Intracerebral Hemorrhage Wed, 06 Aug 2014 07:17:46 +0000 Background. Spontaneous intracerebral hemorrhage (ICH) is common and causes significant mortality and morbidity. To date, optimal medical and surgical intervention remains uncertain. A lack of definitive benefit for operative management may be attributable to adverse surgical effect, collateral tissue injury. This is particularly relevant for ICH in dominant, eloquent cortex. Minimally invasive surgery (MIS) offers the potential advantage of reduced collateral damage. MIS utilizing a parafascicular approach has demonstrated such benefit for intracranial tumor resection. Methods. We present a case of dominant hemisphere spontaneous ICH evacuated via the minimally invasive subcortical parafascicular transsulcal access clot evacuation (Mi SPACE) model. We use this report to introduce Mi SPACE and to examine the application of this novel MIS paradigm. Case Presentation. The featured patient presented with a left temporal ICH and severe global aphasia. The hematoma was evacuated via the Mi SPACE approach. Postoperative reassessments showed significant improvement. At two months, bedside language testing was normal. MRI tractography confirmed limited collateral injury. Conclusions. This case illustrates successful application of the Mi SPACE model to ICH in dominant, eloquent cortex and subcortical regions. MRI tractography illustrates collateral tissue preservation. Safety and feasibility studies are required to further assess this promising new therapeutic paradigm. Benjamin Ritsma, Amin Kassam, Dariush Dowlatshahi, Thanh Nguyen, and Grant Stotts Copyright © 2014 Benjamin Ritsma et al. All rights reserved. Intermittent Atrioventricular Block following Fingolimod Initiation Tue, 05 Aug 2014 11:02:59 +0000 A 47-year-old female patient with multiple sclerosis (MS) developed symptomatic intermittent 2nd degree atrioventricular block (AVB) of five-hour duration, five hours after the first two doses of fingolimod, that resolved completely. Frequency domain analysis of heart rate variability (HRV) revealed increased parasympathetic activity and decreased sympathetic tone, while modified Ewing tests were suggestive of impaired cardiac sympathetic function. We hypothesize that expression of this particular arrhythmia might be related to autonomic nervous system (ANS) dysfunction due to demyelinating lesions in the upper thoracic spinal cord, possibly augmented by the parasympathetic effect of the drug. E. Gialafos, S. Gerakoulis, A. Grigoriou, V. Haina, C. Kilidireas, E. Stamboulis, and E. Andreadou Copyright © 2014 E. Gialafos et al. All rights reserved. Neurologic Complications Associated with Sjögren’s Disease: Case Reports and Modern Pathogenic Dilemma Tue, 05 Aug 2014 09:50:08 +0000 Objectives. Sjögren’s syndrome (SS) may be complicated by some neurological manifestations, generally sensory polyneuropathy. Furthermore, involvement of cranial nerves was described as rare complications of SS. Methods. We reported 2 cases: the first one was a 40-year-old woman who developed neuritis of the left optic nerve as presenting symptom few years before the diagnosis of SS; the second was a 54-year-old woman who presented a paralysis of the right phrenic nerve 7 years after the SS onset. An exhaustive review of the literature on patients with cranial or phrenic nerve involvements was also carried out. Results. To the best of our knowledge, our second case represents the first observation of SS-associated phrenic nerve mononeuritis, while optic neuritis represents the most frequent cranial nerve involvement detectable in this connective tissue disease. Trigeminal neuropathy is also frequently reported, whereas neuritis involving the other cranial nerves is quite rare. Conclusions. Cranial nerve injury is a harmful complication of SS, even if less commonly recorded compared to peripheral neuropathy. Neurological manifestations may precede the clinical onset of SS; therefore, in patients with apparently isolated cranial nerve involvement, a correct diagnosis of the underlying SS is often delayed or overlooked entirely; in these instances, standard clinicoserological assessment is recommendable. Michele Colaci, Giulia Cassone, Andreina Manfredi, Marco Sebastiani, Dilia Giuggioli, and Clodoveo Ferri Copyright © 2014 Michele Colaci et al. All rights reserved. Haemorrhagic Presentation of a Craniopharyngioma in a Pregnant Woman Tue, 05 Aug 2014 00:00:00 +0000 Objective. Craniopharyngioma is a rare tumour, and, consequently, acute clinical presentation and diagnosis, during pregnancy, of this pathology are quite difficult to find. Only few cases are reported in the literature, and no one describes these two conditions in association. Methods. We report a particular case of craniopharyngioma presenting both of the above conditions. Results. The patient was successfully operated with endoscopic technique. Conclusions. Rare and difficult cases, created by the superposition of different clinical conditions, need multidisciplinary management, with collaboration, integration, and cooperation between different medical specialists. Cesare Zoia, Andrea Cattalani, Elena Turpini, Viola Marta Custodi, Marco Benazzo, Fabio Pagella, Paolo Carena, Elisabetta Lovati, Pietro Lucotti, and Paolo Gaetani Copyright © 2014 Cesare Zoia et al. All rights reserved. Valproate Treatment in an ALS Patient Carrying a c.194G>A Spastin Mutation and SMN2 Homozygous Deletion Thu, 17 Jul 2014 07:40:47 +0000 Here we report the case of an ALS patient found to carry both a novel heterozygous change (c.194G>A) within the spastin gene and a homozygous deletion of the SMN2 gene. The patient was started on valproic acid (VPA, 600 mg/die per os) considering the capacity of this drug of increasing survival motor neuron through an epigenetic mechanism. Patient clinical course and molecular effects of VPA on skin fibroblasts obtained from the proband are described. This c.194G>A spastin mutation might expand the previously known borders of type 4 spastic paraplegia (SPG4) and we suggest the intriguing possibility that the absence of SMN2 might have acted as a contributory risk factor for starting lower motor neuron damage. Exploring the relationship genocopy-phenocopy in selected ALS patients might represent an interesting strategy for understanding its clinical variability. Lucio Tremolizzo, Gessica Sala, Elisa Conti, Virginia Rodriguez-Menendez, Antonella Fogli, Angela Michelucci, Paolo Simi, Silvana Penco, Christian Lunetta, Massimo Corbo, and Carlo Ferrarese Copyright © 2014 Lucio Tremolizzo et al. All rights reserved. A Beautician’s Dystonia: Long-Lasting Effect of Botulinum Toxin Wed, 16 Jul 2014 12:09:45 +0000 Treatment options for dystonia are not curative but symptomatic; the treatment of choice for focal dystonias is repeated botulinum toxin injections. Here, we present the case of a 46-year-old beautician with focal dystonia in her left hand that affected her ability to work. Pharmacological treatment with clonazepam and gabapentin failed to resolve her symptoms and was discontinued due to side effects (sleepiness, gastrointestinal disorders). Intramuscular injection of botulinum toxin (incobotulinumtoxinA, Xeomin) into the extensor digitorum communis (35 U), flexor carpi radialis (35 U), and flexor digitorum superficialis (30 U) muscles resulted in complete resolution of symptoms at clinical assessments at 1, 3, 6, and 10 months after the injections, confirmed by the results of surface electromyography 10 months after treatment. The patient was able to work again 1 month after treatment. No reinjection has been necessary at the last evaluation (12 months after treatment). In conclusion, botulinum toxin is an effective treatment for focal dystonia that can have long-lasting effects and can improve patients’ ability to work and quality of life. Siria Di Martino, Stefania Dalise, Giuseppe Lamola, Martina Venturi, Bruno Rossi, and Carmelo Chisari Copyright © 2014 Siria Di Martino et al. All rights reserved. Cardiac Failure as an Unusual Presentation in a Patient with History of Amyotrophic Lateral Sclerosis Tue, 15 Jul 2014 14:18:45 +0000 Amyotrophic lateral sclerosis (ALS) is the most well-known form of motor neuron diseases in which both upper and lower motor neurons are involved in this disease. We presented an unusual case of ALS whom had presented with chief complaint of dyspnea. Cardiac failure was diagnosed at the final stage of the ALS disease. The pathogenetic mechanism leading to an elevated occurrence of cardiomyopathy in ALS is not comprehensible. Dilated cardiomyopathy has been explained in some previous studies. Based on the collected data, it was hypothesized that cardiomyopathy is underdiagnosed in the ALS population, probably because symptoms are masqueraded as a result of the patients’ disability. It was suggested that in all motor neuron diseases a serial cardiological evaluation should be executed, including annual echocardiography. Mohammad Hasan Namazi, Isa Khaheshi, Habib Haybar, and Shooka Esmaeeli Copyright © 2014 Mohammad Hasan Namazi et al. All rights reserved. Listerial Rhombencephalitis in an Immunocompetent Woman Sun, 13 Jul 2014 11:48:33 +0000 Listeriosis usually affects immunocompromised patients including elderly people and pregnant women, but it may also affect otherwise healthy individuals. In our report, we present a case of a rare and very severe form of listeriosis-rhombencephalitis in a 61-year-old female with no history of immunosuppression, who, because of history, clinical picture, and laboratory results as well as negative cultures, was at first diagnosed with viral encephalitis. This paper underlines that Listeria monocytogenes infection should be taken into consideration in case of lymphocytic encephalitis even in immunocompetent patients. Typical MRI picture may be crucial in establishing a proper diagnosis as the lab results may be misleading. Piotr Czupryna, Agata Zajkowska, Adam Garkowski, Sławomir Pancewicz, Katarzyna Guziejko, Anna Moniuszko, and Joanna Zajkowska Copyright © 2014 Piotr Czupryna et al. All rights reserved. Transient Global Amnesia Associated with an Acute Infarction at the Cingulate Gyrus Sun, 13 Jul 2014 10:24:26 +0000 Background. Transient global amnesia (TGA) is a syndrome of sudden, unexplained isolated short-term memory loss. In the majority of TGA cases, no causes can be identified and neuroimaging, CSF studies and EEG are usually normal. We present a patient with TGA associated with a small acute infarct at the cingulate gyrus. Case Report. The patient, a 62 year-old man, developed two episodes of TGA. He had hypertension and hypercholesterolemia. He was found to have an acute ischemic stroke of small size (15 mm of maximal diameter) at the right cerebral cingulate gyrus diagnosed on brain magnetic resonance imaging. No lesions involving other limbic system structures such as thalamus, fornix, corpus callosum, or hippocampal structures were seen. The remainder of the examination was normal. Conclusion. Unilateral ischemic lesions of limbic system structures may result in TGA. We must bear in mind that TGA can be an associated clinical disorder of cingulate gyrus infarct. Alejandro Gallardo-Tur, Jorge Romero-Godoy, Carlos de la Cruz Cosme, and Adriá Arboix Copyright © 2014 Alejandro Gallardo-Tur et al. All rights reserved. Diagnosis of Exclusion: A Case Report of Probable Glatiramer Acetate-Induced Eosinophilic Myocarditis Thu, 03 Jul 2014 09:14:49 +0000 Importance. Medication-induced eosinophilia is an acknowledged, often self-limiting occurrence. Glatiramer acetate, a biologic injection used in the management of relapsing-remitting multiple sclerosis, is widely regarded as a safe and effective medication and lists eosinophilia as an infrequent side effect in its package insert. Contrary to reports of transient, benign drug-induced eosinophilia, we describe a case of probable glatiramer acetate-induced eosinophilia that ultimately culminated in respiratory distress, shock, and eosinophilic myocarditis. Observations. A 59-year-old female was admitted to the hospital after routine outpatient labs revealed leukocytosis (43,000 cells/mm3) with pronounced hypereosinophilia (63%). This patient had been using glatiramer acetate without complication for over 10 years prior to admission. Leukocytosis and hypereosinophilia persisted as a myriad of diagnostic evaluations returned negative, ultimately leading to respiratory depression, shock, and myocarditis. Glatiramer acetate was held for the first time on day 6 of the hospital stay with subsequent resolution of leukocytosis, hypereosinophilia, respiratory distress, and shock. Conclusions and Relevance. Glatiramer acetate was probably the cause of this observed hypereosinophilia and the resulting complications. Reports of glatiramer-induced eosinophilia are rare, and few case reports regarding medication-induced hypereosinophilia describe the severe systemic manifestations seen in this patient. Christopher J. Michaud, Heather M. Bockheim, Muhammad Nabeel, and Timothy E. Daum Copyright © 2014 Christopher J. Michaud et al. All rights reserved. Cerebellar Dysfunction in a Patient with HIV Mon, 30 Jun 2014 11:14:00 +0000 A 50-year-old AIDS patient with a CD4 T-cell count of 114/mm3 was admitted with cerebellar symptoms of left CN XI weakness, wide-based gait with left-sided dysmetria, abnormal heel-knee-shin test, and dysdiadochokinesia. MRI showed region of hyperintensity in the left inferior cerebellar hemisphere involving the cortex and underlying white matter. Serological tests for HSV1, HSV2, and syphilis were negative. Her CSF contained high protein content and a WBC of 71/mm3, predominantly lymphocytes. The CSF was also negative for cryptococcal antigen and VDRL. CSF culture did not grow microbes. CSF PCR assay was negative for HSV1 and HSV2 but was positive for JC virus (1,276 copies). The most likely diagnosis is granule cell neuronopathy (GCN), which can only be definitively confirmed with biopsy and immunohistochemistry. Fernando Gonzalez-Ibarra, Waheed Abdul, Sahar Eivaz-Mohammadi, Christopher Foscue, Srinivas Gongireddy, and Amer Syed Copyright © 2014 Fernando Gonzalez-Ibarra et al. All rights reserved. Late-Onset Glycogen Storage Disease Type II (Pompe’s Disease) with a Novel Mutation: A Malaysian Experience Mon, 30 Jun 2014 10:13:11 +0000 Pompe’s disease (acid maltase deficiency, glycogen storage disease type II) is an autosomal recessive disorder caused by a deficiency of lysosomal acid -1,4-glucosidase, resulting in excessive accumulation of glycogen in the lysosomes and cytoplasm of all tissues, most notably in skeletal muscles. We present a case of adult-onset Pompe’s disease with progressive proximal muscles weakness over 5 years and respiratory failure on admission, requiring prolonged mechanical ventilation. Electromyography showed evidence of myopathic process with small amplitudes, polyphasic motor unit action potentials, and presence of pseudomyotonic discharges. Muscle biopsy showed glycogen-containing vacuoles in the muscle fibers consistent with glycogen storage disease. Genetic analysis revealed two compound heterozygous mutations at c.444C>G (p.Tyr148*) in exon 2 and c.2238G>C (p.Trp746Cys) in exon 16, with the former being a novel mutation. This mutation has not been reported before, to our knowledge. The patient was treated with high protein diet during the admission and subsequently showed good clinical response to enzyme replacement therapy with survival now to the eighth year. Conclusion. In patients with late-onset adult Pompe’s disease, careful evaluation and early identification of the disease and its treatment with high protein diet and enzyme replacement therapy improve muscle function and have beneficial impact on long term survival. Hiew Fu Liong, Siti Aishah Abdul Wahab, Yusnita Yakob, Ngu Lock Hock, Wong Kum Thong, and Shanthi Viswanathan Copyright © 2014 Hiew Fu Liong et al. All rights reserved. Management of Gamma-Butyrolactone Dependence with Assisted Self-Administration of GBL Thu, 26 Jun 2014 12:15:51 +0000 Gamma-hydroxybutyric acid (GHB) and its liquid precursor gamma-butyrolactone (GBL) have become increasingly popular beyond the clubbing culture resulting in daily consumption and dependence in the broader population. This case report illustrates the challenges of managing GHB-withdrawal and a possibly superior future approach of its management by titration and tapering of the addictive agent. Rafael Meyer, Josef Jenewein, and Soenke Boettger Copyright © 2014 Rafael Meyer et al. All rights reserved. Encephalopathy and Neuropathy due to Glue, Paint Thinner, and Gasoline Sniffing in Trinidad and Tobago-MRI Findings Wed, 18 Jun 2014 11:21:23 +0000 A 29-year-old male petrol station pump attendant was admitted with ataxia and clinical evidence of a sensorimotor polyneuropathy which developed over the preceding 3 months. He had cognitive dysfunction, hearing loss, and cerebellar clinical abnormalities that came on slowly over the three years. He had a fifteen-year history of sniffing mostly glue, occasionally paint thinners, and, in the recent two years, gasoline. Magnetic resonance brain imaging showed abnormalities of the cerebral cortex, cerebral white matter, corpus callosum, hippocampus, brainstem and cerebellar atrophy, hypointensities of basal ganglia, red nuclei, and substantia nigra as previously described in toluene sniffing. Abstinence for six months led to partial clinical improvement. Clinicians need to be aware of this preventable entity which has peculiar radiological findings which are being increasingly accepted as typical. Kanterpersad Ramcharan, Amrit Ramesar, Moshanti Ramdath, Joel Teelucksingh, and Maria Gosein Copyright © 2014 Kanterpersad Ramcharan et al. All rights reserved. Acute Aneurismal Bilateral Subdural Haematoma without Subarachnoid Haemorrhage: A Case Report and Review of the Literature Wed, 18 Jun 2014 00:00:00 +0000 Spontaneous pure acute bilateral subdural haematoma (ASDH) without intraparenchymal or subarachnoid haemorrhage caused by a ruptured cerebral aneurysm is extremely rare. It can follow rupture of different aneurysms specially located in anterior incisural space; the most frequently encountered location is the PcoA aneurysms as demonstrated in the present case. We present a case report of a PcoA aneurysm presenting as pure bilateral ASDH. A high level of suspicion for bleeding of arterial origin should be maintained in all cases of acute subdural haematoma without history of trauma. The neurological status on admission dictates the appropriate timing and methodology of the neuroradiological investigations. Ossama Mansour, Tamer Hassen, and Sameh Fathy Copyright © 2014 Ossama Mansour et al. All rights reserved. Recovery of Dysphagia in Lateral Medullary Stroke Tue, 17 Jun 2014 07:17:15 +0000 Lateral medullary stroke is typically associated with increased likelihood of occurrence of dysphagia and exhibits the most severe and persistent form. Worldwide little research exists on dysphagia in brainstem stroke. An estimated 15% of all patients admitted to stroke rehabilitation units experience a brainstem stroke out of which about 47% suffer from dysphagia. In India, a study showed that 22.3% of posterior circulation stroke patients develop dysphagia. Dearth of literature on dysphagia and its outcome in brainstem stroke particularly lateral medullary stroke motivated the author to present an actual case study of a patient who had dysphagia following a lateral medullary infarct. This paper documents the severity and management approach of dysphagia in brainstem stroke, with traditional dysphagia therapy and VitalStim therapy. Despite being diagnosed with a severe form of dysphagia followed by late treatment intervention, the patient had complete recovery of the swallowing function. Hitesh Gupta and Alakananda Banerjee Copyright © 2014 Hitesh Gupta and Alakananda Banerjee. All rights reserved. Paroxysmal Sneezing at the Onset of Syncopes and Transient Ischemic Attack Revealing a Papillary Cardiac Fibroelastoma Tue, 17 Jun 2014 06:27:32 +0000 Sneezing can at times be associated with neurological disorders. The “sneeze center” is localized in the lateral medulla. We report the case of a 50-year-old man who presented three episodes of sneezing, two of them followed by an episode of transient gait instability and dizziness and the third one followed by an episode of transient left hemiparesis due to fibroelastoma of the aortic cardiac valve. To the best of our knowledge, this is the first description of a transient ischemic attack due to cardiac papillary fibroelastoma and revealed by violent episodes of sneezing. Stéphane Mathis, Matthias Lamy, Jonathan Ciron, Anna Iljicsov, Roxana Arjmand, Pierre Agius, and Jean-Philippe Neau Copyright © 2014 Stéphane Mathis et al. All rights reserved. Microcystic Variant of an Intraosseous Meningioma in the Frontal Area: A Case Report Tue, 17 Jun 2014 06:16:33 +0000 Meningiomas located inside the bone of the calvaria belong to the group of rare types of tumours. The microcystic variant is the least common in this area. Due to their similarity to other tumours in this area, the imaging test of those tumours may constitute the source of an improper preoperative diagnosis. According to the records of the Department of Neurosurgery in Bielsko-Biała, 133 patients diagnosed with an intracranial meningioma confirmed by a histopathological test were operated in the last 10 years (2004–2014). In the histopathological test, three patients were diagnosed with the microcystic variant, which constitutes 2.25% of the cases. Only one variant of microcystic meningioma was located inside the bone, which constitutes 0.75% of all the meningiomas operated. Jan Bujok and Marek Bienioszek Copyright © 2014 Jan Bujok and Marek Bienioszek. All rights reserved. Conus Medullaris Syndrome following Radionuclide Cisternography Thu, 12 Jun 2014 06:59:13 +0000 Radionuclide cisternography is generally considered to be a safe procedure without significant neurological complications. However, in this report we present a patient who developed conus medullaris syndrome following radionuclide cisternography. A 46-year-old woman underwent lumbar puncture followed by radionuclide cisternography with the diagnosis of hydrocephalus. After the cisternography, she developed voiding difficulty with perineal sensory loss. Lumbar MRI revealed a high signal intensity lesion on T2-weighted images at the level of conus medullaris. Considering its clinical course and MRI findings, a spinal cord infarction is highly suggested as a cause of the conus medullaris lesion in this patient. Jay Chol Choi Copyright © 2014 Jay Chol Choi. All rights reserved. Cerebral Venous Sinus Thrombosis following Diagnostic Curettage in a Patient with Uterine Fibroid Sun, 01 Jun 2014 13:04:47 +0000 Cerebral venous sinus thrombosis (CVST) is a relatively rare cerebrovascular disease, of which the risk has been documented in patients with numerous conditions. However, CVST has never been previously described in association with the use of a diagnostic curettage in patient with uterine fibroid. Herein, we described a 43-year-old woman who presented with recurrent convulsive seizures and severe and progressive headache 1 day after a diagnostic curettage of the uterus, which was confirmed to be uterine fibroid pathologically later, and her condition subsequently progressed to confusion. Brain magnetic resonance imaging (MRI) revealed an acute extensive thrombosis of the left transverse and sigmoid sinus and the ipsilateral cerebellum infarction. Evaluation for primary thrombophilia revealed that an iron deficiency anemia (IDA) due to the fibroid bleeding induced menorrhagia together with a diagnostic curettage might be the sole hypercoagulable risk factor identified. Treatment with anticoagulation led to full recovery of her symptoms and recanalization of the thrombosis was proven on magnetic resonance venography (MRV) 2 months later. We suggest that CVST should be recognized as a potential complication related to this diagnostic technique, especially in patient with IDA. The early diagnosis and timely treatment would be of significance in improving the prognosis of this potentially lethal condition. Xiao-Qun Zhu and Li Cao Copyright © 2014 Xiao-Qun Zhu and Li Cao. All rights reserved. A Rare Sequela of Acute Disseminated Encephalomyelitis Mon, 26 May 2014 13:14:31 +0000 Acute disseminated encephalomyelitis is a demyelinating disease, typically occurring in children following a febrile infection or a vaccination. Primary and secondary immune responses contribute to inflammation and subsequent demyelination, but the exact pathogenesis is still unknown. Diagnosis of acute disseminated encephalomyelitis is strongly suggested by temporal relationship between an infection or an immunization and the onset of neurological symptoms. Biopsy is definitive. In general, the disease is self-limiting and the prognostic outcome is favorable with anti-inflammatory and immunosuppressive agents. Locked-in syndrome describes patients who are awake and conscious but have no means of producing limb, speech, or facial movements. Locked-in syndrome is a rare complication of acute disseminated encephalomyelitis. We present a case of incomplete locked-in syndrome occurring in a 34-year-old male secondary to acute disseminated encephalomyelitis. Our case is unique, as acute disseminated encephalomyelitis occurred in a 34-year-old which was poorly responsive to immunosuppression resulting in severe disability. Vijay Kodadhala, Saravana Devulapalli, Mohankumar Kurukumbi, and Annapurni Jayam-Trouth Copyright © 2014 Vijay Kodadhala et al. All rights reserved.