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Geetha Anand, Grace Vasallo, Maria Spanou, Saumya Thomas, Michael Pike, Didu Sanduni Kariyawasam, Sanjay Mehta, Allyson Parry, Juliette Durie-Gair, James Nicholson, Karine Lascelles, Vanessa Everett, Frances Mary Gibbon, Nicola Jarvis, John Elston, Dafydd Gareth Evans, Dorothy Halliday
OBJECTIVE: Onset of symptoms in severe sporadic neurofibromatosis type 2 (NF2) is typically within childhood; however, there is poor awareness of presenting features in young children, potentially resulting in delayed diagnosis and poorer outcome. We have reviewed presentation of sporadic paediatric NF2 to raise awareness of early features, highlighting those requiring further investigation. DESIGN: Patients diagnosed with NF2 at age ≤16 and seen between 2012 and 2015 were notified via the British Paediatric Neurology Surveillance Unit or identified through the English NF2 service...
March 13, 2018: Archives of Disease in Childhood
Ahmad Daher, Carlos Kamiya-Matsuoka, Karin Woodman
Peripheral nervous system damage from hematologic malignancies is related to neoplastic cells infiltration of peripheral nerves or to monoclonal antibody production cross-reacting with peripheral nerves' antigens. Neurolymphomatosis (NL), a rare manifestation of hematologic malignancies, occurs when malignant cells invade the peripheral nerves leading to various manifestations. Here, we report a case of NL with 2 hematologic malignancies in a 79-year-old woman presenting with lower extremity pain/weakness. Investigation revealed anemia, IgM kappa monoclonal gammopathy, and elevated anti-MAG titer...
March 2018: Journal of Clinical Neuromuscular Disease
Darryl B Sneag, Schneider K Rancy, Scott W Wolfe, Susan C Lee, Vivek Kalia, Steve K Lee, Joseph H Feinberg
INTRODUCTION: The aim of this study was to characterize lesion distribution in Parsonage-Turner Syndrome (PTS) using high-resolution MRI. METHODS: The MRIs of 27 patients with clinically confirmed PTS were reviewed. Two radiologists independently evaluated the brachial plexus proper, side and terminal plexus branches, and more distal, upper extremity nerves. RESULTS: All patients had at least 1 clinically involved nerve. On MRI, the plexus appeared normal in 24/27 patients; in 3 others, signal hyperintensity was seen immediately proximal to the take-off of abnormal side or terminal branch nerves...
February 20, 2018: Muscle & Nerve
Christophoros Astaras, Rita de Micheli, Bianca Moura, Thomas Hundsberger, Andreas F Hottinger
PURPOSE OF REVIEW: Immune checkpoint inhibitors represent a major step forward in the field of oncologic immunotherapy these last years and have significantly increased survival of cancer patients in an ever-growing number of indications. These agents block specific immune checkpoint molecules (programmed cell death protein 1 and its ligand as well as cytotoxic T-lymphocyte-associated antigen 4) that normally downregulate the immune response. These new agents show a specific range of adverse effects induced by abnormal immunologic activation...
February 1, 2018: Current Neurology and Neuroscience Reports
John G Horneff, Matthew Pepe, Bradford Tucker, Fotios Tjoumakaris, Nicholas Lombardi, Charles Wowkanech, Luke S Austin
PURPOSE: The purpose of this study was to characterize the occurrence of distal mononeuropathy (DMN) in patients before and after arthroscopic rotator cuff repair (RCR) as well as resolution of the symptoms. METHODS: One hundred one patients over the age of 18 undergoing arthroscopic RCR +/- concurrent procedures completed a questionnaire regarding the presence of a symptomatic DMN. Patients with history of diabetic neuropathy, cervical radiculopathy, brachial plexopathy, or Spurling sign were excluded...
January 17, 2018: Arthroscopy: the Journal of Arthroscopic & related Surgery
Jun-Hui Yuan, Akihiro Hashiguchi, Yuji Okamoto, Akiko Yoshimura, Masahiro Ando, Kazutaka Shiomi, Kayoko Saito, Makoto Takahashi, Keiko Ichinose, Takuma Ohmichi, Kazushi Ichikawa, Adachi Tadashi, Hiroshi Takigawa, Hidehiro Shibayama, Hiroshi Takashima
SH3TC2, known as the causative gene of autosomal recessive demyelinating Charcot-Marie-Tooth type 4C (CMT4C), was also found linked to a mild mononeuropathy of the median nerve with an autosomal dominant inheritance pattern. Using DNA microarray, Illumina MiSeq, and Ion proton, we carried out gene panel sequencing among 1483 Japanese CMT patients, containing 397 patients with demyelinating CMT. From seven patients with demyelinating CMT, we identified eight recessive variants in the SH3TC2 gene, consisting of five novel (pathogenic/likely pathogenic) and three reported variants...
January 10, 2018: Journal of Human Genetics
Amro M Stino, Benn E Smith
Multiple techniques have been developed for the electrodiagnostic evaluation of cranial nerves XI and XII. Each of these carries both benefits and limitations, with more techniques and data being available in the literature for spinal accessory than hypoglossal nerve evaluation. Spinal accessory and hypoglossal neuropathy are relatively uncommon cranial mononeuropathies that may be evaluated in the outpatient electrodiagnostic laboratory setting. A review of available literature using PubMed was conducted regarding electrodiagnostic technique in the evaluation of spinal accessory and hypoglossal nerves searching for both routine nerve conduction studies and repetitive nerve conduction studies...
January 2018: Journal of Clinical Neurophysiology: Official Publication of the American Electroencephalographic Society
Bart Swinnen, Steven Boeynaems, Maarten Schrooten, Veroniek Saegeman, Kristl G Claeys, Philip Van Damme
No abstract text is available yet for this article.
March 2018: Neurology® Neuroimmunology & Neuroinflammation
Marcin Kowalczuk, Albert Lin
No abstract text is available yet for this article.
February 2018: Journal of Shoulder and Elbow Surgery
David G Greathouse, Greg Ernst, John S Halle, Scott W Shaffer
BACKGROUND: Neuropathy of the ulnar nerve at the elbow is one of a number of muscle-related and nerve-related disorders that affect people performing intensive work with their hands and upper extremities, and is the second most prevalent peripheral nerve mononeuropathy. There are several classification systems currently being used by the medical community for patients with neuropathy of the ulnar nerve at the elbow. However, few of these classification systems include the clinical electrophysiologic parameters nerve conduction (NCS) and electromyographic (EMG) studies...
October 2017: U.S. Army Medical Department Journal
Mark B Bromberg
This edition of "What is in the Literature?" will focus on motor neuron disease (MND), including adult forms [amyotrophic lateral sclerosis (ALS), progressive muscular atrophy (PMA), primary lateral sclerosis (PLS), progressive bulbar palsy (PBA), and monomelic mononeuropathy (MMND)], and childhood forms [spinal muscle atrophy (SMA)].
December 2017: Journal of Clinical Neuromuscular Disease
Diogo Fernandes Dos Santos, Matheus Rocha Mendonça, Douglas Eulálio Antunes, Elaine Fávaro Pípi Sabino, Raquel Campos Pereira, Luiz Ricardo Goulart, Isabela Maria Bernardes Goulart
BACKGROUND: Leprosy neuropathy is considered the most common peripheral neuropathy of infectious etiology worldwide, representing a public health problem. Clinical diagnosis of primary neural leprosy (PNL) is challenging, since no skin lesions are found and the slit skin smear bacilloscopy is negative. However, there are still controversial concepts regarding the primary-neural versus pure-neural leprosy definition, which will be explored by using multiple clinical-laboratory analyses in this study...
November 2017: PLoS Neglected Tropical Diseases
Farzaneh Samiee, Mohammad-Reza Zarrindast
The purpose of this study was to investigate the effect of electrical stimulation on sciatic nerve regeneration and functional recovery of target muscles. Mice were randomly divided into 3 groups: ligated without electrical stimulation, ligated with electrical stimulation and control (non-ligated). The unilateral peripheral mononeuropathy was produced on the right hind limb. Sciatic nerve was then electrically stimulated daily for a period of 2 weeks (duration: 0.2 msec, frequency: 100Hz, amplitude: 15mA). Evoked surface EMG was recorded from biceps femoris (BF) and gluteus maximus (GM) muscles on the 3rd, 7th, 10th and 14th day after sciatic nerve ligation...
June 27, 2017: European Journal of Translational Myology
Chathuranga Lakmal Fonseka, Sampath Rukshani Galappaththi, Dayakshi Abeyaratne, Nirmali Tissera, Lalith Wijayaratne
Background: Polyarteritis nodosa (PAN) is a medium vessel vasculitis which causes significant morbidity and mortality. Usually, it presents with constitutional symptoms with angiographic evidence of aneurysms or segmental stenosis of arteries of mesenteric or renal vasculature. It is exceedingly uncommon for PAN to present with symptomatic progressive intermittent claudication. Case Presentation: We describe a 60-year-old male who presented with rapidly progressive intermittent claudication of his right leg...
2017: Case Reports in Medicine
Tiago da Silva Freitas, Erich Talamoni Fonoff, Oswaldo Ribeiro Marquez Neto, Iruena Moraes Kessler, Laura Mendes Barros, Ronan Wilk Guimaraes, Monalisa Ferreira Azevedo
OBJECTIVE: Leprosy affects approximately 10-15 million patients worldwide and remains a relevant public health issue. Chronic pain secondary to leprosy is a primary cause of morbidity, and its treatment remains a challenge. We evaluated the feasibility and safety of peripheral nerve stimulation (PNS) for painful mononeuropathy secondary to leprosy that is refractory to pharmacological therapy and surgical intervention (decompression). METHODS: Between 2011 and 2013 twenty-three patients with painful mononeuropathy secondary to leprosy were recruited to this prospective case series...
October 29, 2017: Neuromodulation: Journal of the International Neuromodulation Society
Carlo Fusco, Carlotta Spagnoli, Grazia Gabriella Salerno, Elena Pavlidis, Daniele Frattini, Francesco Pisani
BACKGROUND: Hereditary neuropathy with liability to pressure palsy (HNPP) is an autosomal dominant disorder most commonly presenting with acute-onset, non-painful focal sensory and motor mononeuropathy. Approximately 80% of patients carry a 1.5 Mb deletion of chromosome 17p11.2 involving the peripheral myelin protein 22 gene (PMP22), the same duplicated in Charcot-Marie-Tooth 1A patients. In a small proportion of patients the disease is caused by PMP22 point mutations. CASE PRESENTATION: We report on a familial case harbouring a new point mutation in the PMP22 gene...
October 27, 2017: Italian Journal of Pediatrics
Narumon Keorochana, Kanaspana Klanarongran, Kantang Satayasoontorn, Sumapa Chaiamnuay
The purpose of this study was to describe a case of necrobiotic xanthogranuloma scleritis in a 53-year-old male with unilateral progressive visual loss, scleritis, prolonged fever, and multiple mononeuropathy. Scleral biopsy showed necrosis with small abscess, and the pathological tissues revealed submucosal infiltration of mononucleated foamy histiocytes (xanthoma cells), hemosiderin-laden macrophages, neutrophils, lymphocytes, plasma cells, and erythrocytes without Touton giant cells or cholesterol clefts...
2017: International Medical Case Reports Journal
Elisa Borsani, Barbara Buffoli, Veronica Bonazza, Russel J Reiter, Rita Rezzani, Luigi F Rodella
Neuropathic pain is a severe condition with unsatisfactory treatments. Melatonin, an indolamine, seems to be a promising molecule suitable for this purpose due to its well-known anti-inflammatory, analgesic, and antioxidant effects, as well as its modulation of the nitroxidergic system. Nevertheless, the data on its mechanism of action and potentialities are currently insufficient in this pathology, especially at the peripheral level. Thus, this work evaluated the effect of a single administration of melatonin in an established mononeuropathy pain model that monitors the behaviour and the changes in the nitroxidergic system in dorsal root ganglia and skin, which are affected by nervous impairment...
October 14, 2017: International Journal of Molecular Sciences
Neil B Newman, Vidya Puthenpura, Stephanie Mischell, Gabriela Ferreira
Multiple myeloma (MM) rarely presents with a primary neurological dysfunction, and if it does it is usually due to a plasmacytoma. This is the first case to discuss hypoglossal nerve dysfunction as the first sign of MM progression secondary to severe pathophysiologic bone lysis. A PubMed-based literature search was completed on April 17, 2016 for the terms "multiple myeloma" and "hypoglossal nerve neuropathy". A 73-year-old woman with known MM who received little treatment for several years, presented secondary to dysarthria and at first was thought to have hyperviscosity syndrome...
February 2017: World Journal of Oncology
Sungsoo Jeon, Da-Ye Kim, Dong Jae Shim, Min-Wook Kim
Peroneal neuropathy is a common mononeuropathy of the lower limb. Some studies have reported cases of peroneal neuropathy after vascular surgery or intervention. However, no cases of peroneal neuropathy with occlusion of a single peripheral artery have been previously reported. A 73-year-old man was referred with a 3-week history of left-sided foot drop. He had a history of valvular heart disease and arrhythmia, and had previously been treated with percutaneous coronary intervention. Computed tomography angiogram of the lower extremity showed proximal occlusion of the left anterior tibial artery...
August 2017: Annals of Rehabilitation Medicine
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