Case Reports in Neurological Medicine http://www.hindawi.com The latest articles from Hindawi Publishing Corporation © 2014 , Hindawi Publishing Corporation . All rights reserved. New Onset Refractory Status Epilepticus in a Young Man with H1N1 Infection Tue, 14 Oct 2014 11:39:07 +0000 http://www.hindawi.com/journals/crinm/2014/585428/ Objective. To report a case of refractory status epilepticus (SE) as an unusual early manifestation of H1N1 influenza infection. Introduction. H1N1 neurological complications have been reported and consist mainly of seizures or encephalopathy occurring in children. However, we only found a single report of an adult developing complex partial SE with H1N1 infection. Case Report. A 21-year-old previously healthy man was brought to the emergency room (ER) after a witnessed generalized tonic clonic seizure (GTCS). He was fully alert and afebrile upon ER arrival, but a second GTCS prompted treatment with Lorazepam and Fosphenytoin. The initial EEG showed diffuse slowing, but a repeat one requested as the patient failed to regain consciousness revealed recurrent focal seizures of independent bihemispheric origin, fulfilling the criteria for nonconvulsive SE. Chest X-ray, followed by chest CT scan, showed a left upper lobe consolidation. H1N1 infection was confirmed with PCR on bronchoalveolar lavage material. Despite aggressive treatment with Midazolam, Propofol, and multiple high dose antiepileptic drugs, the electrographic seizures recurred at every attempt to reduce the intravenous sedative drugs. The patient died two weeks after his initial presentation. Conclusion. H1N1 should be added to the list of rare causes of refractory SE, regardless of the patient’s age. Faisal Ibrahim and Naim Haddad Copyright © 2014 Faisal Ibrahim and Naim Haddad. All rights reserved. Clinical and Genetic Characteristics of Mexican Patients with Juvenile Presentation of Niemann-Pick Type C Disease Thu, 02 Oct 2014 10:43:47 +0000 http://www.hindawi.com/journals/crinm/2014/785890/ Niemann-Pick type C disease (NPC) is a rare lysosomal disease with a protean presentation, ranging from a fatal neonatal course with visceromegaly to an adult presentation with only neurological or psychiatric symptomatology. In this report we describe the genetic and clinical characteristics of 3 Mexican patients from different families with juvenile presentation of NPC. Clinical examination, imaging of central nervous and gastrointestinal system, and EEG were performed. Genetic studies include sequencing and deletion/duplication analysis of NPC1 and NPC2 genes. All patients presented with cognitive impairment, ataxia, and supranuclear vertical gaze palsy; one case had gelastic cataplexy. Also they developed epilepsy and cortical atrophy and two patients had thinning of corpus callosum. The 3 patients were compound heterozygotes for NPC1 sequence variants, including 5 missense and 1 nonsense mutations: p.P1007A and p.F1087L in Case 1; p.Q921P and p.G992R in Case 2; and p.R348* and p.V1165M in case 3. Mexican patients with juvenile NPC presented with a variable clinical phenotype and compound heterozygosity. This suggests a relative high frequency of mutation carriers as it is reported for European population. Consequently, clinicians should consider NPC as a diagnosis possibility in any adolescent or young adult patient with juvenile dementia and/or ataxia, even in absence of gelastic cataplexy and supranuclear vertical gaze palsy. Raul E. Piña-Aguilar, Aurea Vera-Loaiza, Oscar F. Chacón-Camacho, Juan Carlos Zenteno, Lilia Nuñez-Orozco, and Yuritzi Santillán-Hernández Copyright © 2014 Raul E. Piña-Aguilar et al. All rights reserved. From Mild Ataxia to Huntington Disease Phenocopy: The Multiple Faces of Spinocerebellar Ataxia 17 Thu, 02 Oct 2014 10:03:12 +0000 http://www.hindawi.com/journals/crinm/2014/643289/ Introduction. Spinocerebellar ataxia 17 (SCA 17) is a rare autosomal dominant cerebellar ataxia (ADCA) caused by a CAG/CAA expansion in the TBP gene, reported from a limited number of countries. It is a very heterogeneous ADCA characterized by ataxia, cognitive decline, psychiatric symptoms, and involuntary movements, with some patients presenting with Huntington disease (HD) phenocopies. The SCA 17 expansion is stable during parent-child transmission and intrafamilial phenotypic homogeneity has been reported. However, significant phenotypic variability within families has also been observed. Report of the Family. We presently report a Greek family with a pathological expansion of 54 repeats at the SCA 17 locus that displayed remarkable phenotypic variability. Among 3 affected members, one presented with HD phenocopy; one with progressive ataxia, dementia, chorea, dystonia, and seizures, and one with mild slowly progressive ataxia with minor cognitive and affective symptoms. Conclusions. This is the first family with SCA 17 identified in Greece and highlights the multiple faces of this rare disorder, even within the same family. Georgios Koutsis, Marios Panas, George P. Paraskevas, Anastasia M. Bougea, Athina Kladi, Georgia Karadima, and Elisabeth Kapaki Copyright © 2014 Georgios Koutsis et al. All rights reserved. Delayed Cerebral Radiation Necrosis after Neutron Beam Radiation of a Parotid Adenocarcinoma: A Case Report and Review of the Literature Tue, 30 Sep 2014 08:09:48 +0000 http://www.hindawi.com/journals/crinm/2014/717984/ Cerebral radiation necrosis (CRN) is a well described possible complication of radiation for treatment of intracranial pathology. However, CRN as sequelae of radiation to extracranial sites is rare. Neutron beam radiation is a highly potent form of radiotherapy that may be used to treat malignant tumors of the salivary glands. This report describes a patient who underwent neutron beam radiation for a parotid adenocarcinoma and who developed biopsy-confirmed temporal lobe radiation necrosis thirty months later. This represents the longest time interval described to date, from initial neutron radiation for extracranial pathology to development of CRN. Two other detailed case studies exist in the literature and are described in this report. These reports as well as our patient’s case are reviewed, and additional recommendations are made to minimize the development of CRN after extracranial neutron beam radiation. Physicians should include the possible diagnosis of CRN in any patient with new neurologic signs or symptoms and a history of head and neck radiation that included planned fields extending to the base of the skull. Counseling of patients prior to neutron beam radiation should include potential neurologic complications associated with CRN and risks of treatment for CRN including neurosurgical intervention. Christopher S. Hong, Hamza N. Gokozan, José J. Otero, Michael Guiou, and J. Bradley Elder Copyright © 2014 Christopher S. Hong et al. All rights reserved. Successful Management of Refractory Headache and Facial Pain due to Cavernous Sinus Meningioma with Sphenopalatine Ganglion Radiofrequency Mon, 29 Sep 2014 09:10:19 +0000 http://www.hindawi.com/journals/crinm/2014/923516/ Headaches and facial pain can be extremely difficult to manage for the patient and the clinician. In the medical literature, it has been suggested that the autonomic reflex plays an important role in the pathophysiology of facial neuralgia. The sphenopalatine ganglion is the largest parasympathetic ganglion outside the cranium. It is an easy accessible target for pain management. The application of radiofrequency nerve ablation was described in the medical literature. In this case report, we describe a 54-year-old female. She was diagnosed with a cavernous sinus meningioma. She underwent surgical resection and gamma knife radiosurgery. She was suffering from an intractable hemifacial pain for many years. Her pain started shortly after surgery and continued throughout many years. Sphenopalatine ganglion block in multiple occasions was able to provide temporary relief. The patient’s intractable hemicranial headaches and hemifacial pain responded to the sphenopalatine ganglion radiofrequency nerve ablation. The pain response remained unchanged for 12 months after procedure. This case report increased our current knowledge about the sphenopalatine ganglion role in the headache and facial intractable pain management. The failure of available antalgic medications to adequately control pain in similar patients underscores the need to develop an algorithm for therapies. Foad Elahi and Kwo Wei David Ho Copyright © 2014 Foad Elahi and Kwo Wei David Ho. All rights reserved. Intraoperative Visualization of Bilateral Thrombosis in the Posterior Inferior Cerebellar Artery Apparent in the Telovelomedullary Segment Sun, 28 Sep 2014 11:19:20 +0000 http://www.hindawi.com/journals/crinm/2014/247652/ Unilateral posterior inferior cerebellar artery (PICA) thrombosis is frequent. However, bilateral PICA thrombosis is rare. Herein we report about an intraoperative visualization of a bilateral thrombosis of the telovelomedullary segment of the PICA. A 74-year-old woman was admitted to our department on day two of a bilateral PICA thrombosis with developing cerebellar infarction. Her Glasgow Coma Scale score dropped from 15 to 13, and cranial computed tomography revealed compression of the fourth ventricle with consecutive occlusive hydrocephalus. After the insertion of an external ventricular drainage, the patient underwent urgent suboccipital decompressive craniectomy with removal of infarcted cerebellar tonsils, which allowed the bilateral visualization of the thrombosed telovelomedullary segments. The surgical access may offer surgical therapeutic options in a hyperacute occlusion, such as thromb-/embolectomy or bypass procedures. Edin Nevzati, Bawarjan Schatlo, Ali-Reza Fathi, Javier Fandino, and Carl Muroi Copyright © 2014 Edin Nevzati et al. All rights reserved. Anesthesia Dolorosa of Trigeminal Nerve, a Rare Complication of Acoustic Neuroma Surgery Thu, 25 Sep 2014 13:09:18 +0000 http://www.hindawi.com/journals/crinm/2014/496794/ Anesthesia dolorosa is an uncommon deafferentation pain that can occur after traumatic or surgical injury to the trigeminal nerve. This creates spontaneous pain signals without nociceptive stimuli. Compression of the trigeminal nerve due to acoustic neuromas or other structures near the cerebellopontine angle (CPA) can cause trigeminal neuralgia, but the occurrence of anesthesia dolorosa subsequent to acoustic tumor removal has not been described in the medical literature. We report two cases of acoustic neuroma surgery presented with anesthesia dolorosa along the trigeminal nerve distribution. The patients’ pain was managed with multidisciplinary approaches with moderate success. Foad Elahi and Kwo Wei David Ho Copyright © 2014 Foad Elahi and Kwo Wei David Ho. All rights reserved. Breakfast Time Blackouts Thu, 18 Sep 2014 16:11:32 +0000 http://www.hindawi.com/journals/crinm/2014/568983/ We present the case of a 16-year-old girl who suffered from repeated episodes of collapse and loss of consciousness which could be provoked by undertaking a stretching manoeuvre comprising a combined breath hold and neck torsion. A review of the literature is provided on other cases of so-called “stretch syncope” which appears to be a rare form of reflex syncope affecting patients in adolescence. Andrew W. Barritt and Bridget K. MacDonald Copyright © 2014 Andrew W. Barritt and Bridget K. MacDonald. 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 http://www.hindawi.com/journals/crinm/2014/428425/ 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. Congenital Insensitivity to Pain: A Case Report and Review of the Literature Thu, 18 Sep 2014 00:00:00 +0000 http://www.hindawi.com/journals/crinm/2014/141953/ 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. Neurenteric Cyst of the Area Postrema Tue, 16 Sep 2014 06:23:32 +0000 http://www.hindawi.com/journals/crinm/2014/718415/ 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 http://www.hindawi.com/journals/crinm/2014/928486/ 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 http://www.hindawi.com/journals/crinm/2014/425897/ 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 http://www.hindawi.com/journals/crinm/2014/584934/ 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 http://www.hindawi.com/journals/crinm/2014/406106/ 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 http://www.hindawi.com/journals/crinm/2014/383108/ 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 http://www.hindawi.com/journals/crinm/2014/546817/ 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 http://www.hindawi.com/journals/crinm/2014/102307/ 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 http://www.hindawi.com/journals/crinm/2014/191305/ 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 http://www.hindawi.com/journals/crinm/2014/590292/ 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 http://www.hindawi.com/journals/crinm/2014/435208/ 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 http://www.hindawi.com/journals/crinm/2014/216094/ 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 http://www.hindawi.com/journals/crinm/2014/686181/ 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 http://www.hindawi.com/journals/crinm/2014/986139/ 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 http://www.hindawi.com/journals/crinm/2014/674321/ 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 http://www.hindawi.com/journals/crinm/2014/418180/ 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 http://www.hindawi.com/journals/crinm/2014/786342/ 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 http://www.hindawi.com/journals/crinm/2014/180743/ 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 http://www.hindawi.com/journals/crinm/2014/926510/ 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 http://www.hindawi.com/journals/crinm/2014/485178/ 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.