Case Study

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  • Choi et al. describe the case of a 3 month-old infant who, on the second day of life, had begun to experience painful paroxysmal events starting with tonic contraction of the whole body followed by erythematous harlequin-type color changes. The patient was diagnosed as having paroxysmal extreme pain disorder. The condition was attributed to a mutation in the SCN9A gene, which encodes the voltage-gated sodium channel NaV1.7.

    • Jin-Sung Choi
    • Franck Boralevi
    • Stephen G. Waxman
    Case Study
  • Extreme hypoglycorrhachia is usually caused by bacterial meningitis; however, suspicion should be raised if a patient with persistent extreme hypoglycorrhachia, pleocytosis and negative microbiological studies remains refractory to antimicrobial therapy. Viola describes the case of a 55-year-old man with chronic leptomeningitis and persistent hypoglycorrhachia, who was found to have Currarino syndrome. This syndrome is a complex genetic disorder that includes the following triad: sacral bony defect, presacral mass, and an anorectal malformation. Leptomeningitis in this patient was attributed to cholesterol crystals contained in a large presacral cyst with a communicating fistula to the CNS.

    • George M. Viola
    Case Study
  • Shaikh et al. describe the case of a 60 year-old woman with multiple sclerosis who presented to a vestibular clinic with head tremor and vestibular hypofunction. This combination of symptoms caused oscillopsia, a visual sensation of oscillation of stationary objects. On the basis of eye and head movement measurements, the patient was diagnosed with pseudonystagmus resulting from diminished compensatory vestibulo-ocular reflex responses to the head tremor.

    • Aasef G. Shaikh
    • Stephen Reich
    • David S. Zee
    Case Study
  • Behavioral variant frontotemporal dementia (bvFTD) is characterized by a decline in social skills, emotions, personal conduct and self-awareness, that is indicative of frontal lobe degeneration. Facundo Manes and colleagues report on a case of a patient presenting with pathological gambling who went on to develop the typical syndrome of bvFTD. The authors discuss the importance of recognizing symptoms of bvFTD and raise issues about the legal implications of the diagnosis.

    • Facundo F. Manes
    • Teresa Torralva
    • John R. Hodges
    Case Study
  • Spinazzi et al. describe a case of subacute sensory ataxia and bilateral optic neuropathy associated with thiamine deficiency in a patient with a history of partial gastrectomy. The patient responded well to supplementation with thiamine, showing rapid improvements in ability to walk and normalization of visual field perimetry 2 years after presentation.

    • Marco Spinazzi
    • Corrado Angelini
    • Cesare Patrini
    Case Study
  • In this article, Loy and colleagues examine the case of a woman with frontotemporal dementia who presented in the clinic with complex delusions. Psychosis is considered an unusual early feature of this form of dementia but, when present, can wrongly suggest a diagnosis of schizophrenia. In discussing the case, Loyet al. highlight the clinical features that might assist in the differentiation between these two conditions.

    • Clement T. Loy
    • Jillian J. Kril
    • John R. Hodges
    Case Study
  • Susac syndrome is characterized by a classic triad of symptoms-encephalopathy, branch retinal artery occlusions and hearing loss. Dörr and colleagues present a case of Susac syndrome that highlights how this condition can be easily missed when the triad of symptoms develops successively. Their findings suggest that optical coherence tomography, which detected axonal damage and a reduction of macular volume, could be a valuable complementary tool for the follow-up of patients.

    • Jan Dörr
    • Helena Radbruch
    • Friedemann Paul
    Case Study
  • Complete brachial plexus injury leads to paralysis and loss of sensation in the affected arm and hand. Carlstedt et al. present a long-term follow-up assessment of a 9-year-old boy who underwent spinal cord surgery after sustaining such an injury in a motorcycle accident. The patient showed recovery of hand motor function without restoration of sensation.

    • Thomas Carlstedt
    • Tomas Hultgren
    • Thomas Hansson
    Case Study
  • Chik et al. describe the case of a woman who developed a severe 'thunderclap' headache, followed by generalized tonic–clonic seizures, shortly after giving birth. A head CT scan revealed a subarachnoid hemorrhage, and an angiogram showed areas of vasoconstriction in the cerebral arteries that were consistent with a diagnosis of postpartum cerebral angiopathy.

    • Yolanda Chik
    • Robert E. Hoesch
    • Rafael H. Llinas
    Case Study
  • Rasmussen encephalitis is a chronic inflammatory disease that results in progressive degeneration of one cerebral hemisphere. Immunotherapies for this condition have traditionally targeted T-cell-mediated immunity, but Thilo et al. now report a case in which effective seizure control was achieved through use of the anti-B-cell antibody rituximab.

    • Barbara Thilo
    • Robert Stingele
    • Nicolas Lang
    Case Study
  • The neuroendocrine tumor pheochromocytoma is usually detected via measurement of levels of catecholamines and their metabolites in plasma and urine. In patients with Parkinson disease, however, the results of these tests can be confounded by dopaminergic medications. Mehtaet al. present the case of a 59-year-old man with Parkinson disease in whom a diagnosis of pheochromocytoma was confirmed by means of structural and functional imaging.

    • Shyamal H. Mehta
    • Rajan Prakash
    • Kapil D. Sethi
    Case Study
  • Sips and colleagues describe the onset of intravascular lymphomatosis (IVL) of the brain in a 77-year-old retired research pharmacologist with a history of anemia, pancytopenia, and a recently confirmed diagnosis of myelodysplastic syndrome (MDS). The authors discuss the mechanisms of IVL and MDS and possible relationships between the conditions, as well as a beneficial effect of treatment of IVL with high-dose combination chemotherapy and rituximab

    • Gregorius J. Sips
    • Colum F. Amory
    • Stanley Tuhrim
    Case Study
  • Biebl et al. describe the case of a 12-year-old boy who presented with fever, malaise and fatigue, and was diagnosed with Epstein–Barr virus (EBV) encephalitis when his cerebrospinal fluid tested positive for EBV. Despite intensive care and antiviral treatment, the patient died 1 month after the initial presentation. The authors suggest that EBV encephalitis should be considered in the differential diagnosis when a young patient presents with acute neurological illness of uncertain etiology.

    • Ariane Biebl
    • Christine Webersinke
    • Serge Weis
    Case Study
  • Posterior reversible leukoencephalopathy syndrome (PRES) is a complex disorder with many hypothesized mechanisms. Here, Bhatt and colleagues present a patient who developed PRES subsequent to administration of chemotherapy. The authors discuss in detail the potential causative mechanisms for PRES, emphasizing the need for early recognition of the syndrome and prompt withdrawal of the offending agent in affected patients

    • Archit Bhatt
    • Muhammad U Farooq
    • Mounzer Kassab
    Case Study
  • Dinakar and Höke report on the case of a woman who presented to a neuromuscular clinic with a history of progressive stiffening and painful spasms of the lower extremities. The patient was diagnosed with paraneoplastic fasciitis–panniculits syndrome associated with recurrence of gastric adenocarcinoma. The symptoms improved on initiation of chemotherapy and worsened on discontinuation of chemotherapy.

    • Pradeep Dinakar
    • Ahmet Höke
    Case Study
  • Zinc overload is an unusual cause of copper-deficiency myeloneuropathy, in which affected patients have low serum copper and ceruloplasmin levels and high serum zinc levels. This Case Study describes a patient whose copper-deficiency myeloneuropathy was secondary to long-term use of a denture cream that contained high levels of zinc.

    • Rebecca I Spain
    • Thomas P Leist
    • Eduardo A De Sousa
    Case Study
  • Maternal herpes simplex virus encephalitis is a life-threatening condition for the mother and fetus. To treat the maternal disease and prevent infection in the neonate, a multidisciplinary approach is needed. In this Case Study, Sellner and colleagues demonstrate how with early diagnosis, prompt initiation of antiviral treatment, and suitable neurocritical care, a favorable outcome can be achieved in both mother and child.

    • Johann Sellner
    • Roberto Buonomano
    • Stephen L Leib
    Case Study
  • Creange et al. describe the case of a woman who presented with sudden-onset neuropathy, elevated levels of vascular endothelial growth factor, thrombocytosis, leukocytosis, and thrombosis. Diagnosed with POEMS syndrome, the patient was successfully treated with high-dose chemotherapy and autologous hematopoietic stem-cell transplantation.

    • Alain Créange
    • Ahmed Chater
    • Aline Santin
    Case Study
  • This Case Study describes an 18-year-old woman who presented to a stroke center with dysphasia and right hemiparesis. The patient was diagnosed with cocaine-induced cerebral vasculitis. BOLD MRI cerebrovascular reactivity findings were particularly useful in the diagnosis and follow-up of this case, and the authors point to the technique's potential for imaging cerebral vasculitis in general.

    • Jay S Han
    • Daniel M Mandell
    • David J Mikulis
    Case Study
  • This article discusses the case of a 40-year-old man with basilar artery thrombosis, which, after numerous investigations, was found to be attributable to cocaine use. The authors highlight the importance of asking patients about cocaine exposure as part of a routine cardiovascular history, and they provide the first description of the use of thrombolysis to treat cocaine-induced stroke.

    • Clare MacEwen
    • Mike Ward
    • Alastair Buchan
    Case Study