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https://www.readbyqxmd.com/read/27224435/a-case-of-morvan-syndrome-mimicking-amyotrophic-lateral-sclerosis-with-frontotemporal-dementia
#1
Brin Freund, Manoj Maddali, Thomas E Lloyd
INTRODUCTION: Morvan syndrome is a rare autoimmune/paraneoplastic disorder involving antibodies to the voltage-gated potassium channel complex. It is defined by subacute encephalopathy, neuromuscular hyperexcitability, dysautonomia, and sleep disturbance. It may present a diagnostic dilemma when trying to differentiate from amyotrophic lateral sclerosis with frontotemporal dementia. METHODS: A 76-year-old man with a history of untreated prostate adenocarcinoma was evaluated for subacute cognitive decline, diffuse muscle cramps, and hyponatremia...
June 2016: Journal of Clinical Neuromuscular Disease
https://www.readbyqxmd.com/read/26371189/a-6-year-old-with-leg-cramps
#2
Brian P Jenssen, Andrew J Lautz, Jennifer L Orthmann-Murphy, Sabrina W Yum, Angela Waanders, Elizabeth Fox
A 6-year-old girl presented with a history of leg pain and cramping that progressively worsened over a 2- to 3-week period of time. Her examination was notable for normal vital signs, limited range of motion of her left hip, and a limp. Inflammatory markers were slightly elevated, but the serum electrolytes, calcium, and magnesium, complete blood cell count and differential, and creatine kinase level were normal. She was hospitalized for further diagnostic evaluation and was noted to have abnormal muscle movements classified as myokymia (continuous involuntary quivering, rippling, or undulating movement of muscles)...
October 2015: Pediatrics
https://www.readbyqxmd.com/read/26155363/tumor-induced-osteomalacia-due-to-a-recurrent-mesenchymal-tumor-overexpressing-several-growth-factor-receptors
#3
Maria P Yavropoulou, Nikolina Gerothanasi, Athanasios Frydas, Evangelia Triantafyllou, Chris Poulios, Prodromos Hytiroglou, Panagiotis Apostolou, Ioannis Papasotiriou, Symeon Tournis, Isaak Kesisoglou, John G Yovos
UNLABELLED: Tumor-induced osteomalacia (TIO) is a rare paraneoplastic syndrome caused primarily by benign mesenchymal tumors. These tumors typically follow a benign clinical course and local recurrence occurs in <5% of cases. We investigated a 49-year-old man with a recurrent mesenchymal phosphaturic tumor showing no signs of malignancy. The patient suffered from chronic muscle weakness, myalgia and cramps. His medical record included the diagnosis of oncogenic osteomalacia, for which he was submitted to tumor resection in the left leg three times before...
2015: Endocrinology, Diabetes & Metabolism Case Reports
https://www.readbyqxmd.com/read/25736532/isaacs-syndrome-a-review
#4
REVIEW
Aiesha Ahmed, Zachary Simmons
Isaacs syndrome is a peripheral nerve hyperexcitability (PNH) syndrome that presents as continuous motor activity. Clinical findings include cramps, fasciculations, and myokymia. Electrodiagnosis plays a key role in diagnosis by demonstrating after-discharges on nerve conduction studies, and fasciculation potentials, myokymic discharges, neuromyotonic discharges, and other types of abnormal spontaneous activity on needle examination. Etiopathogenesis involves the interaction of genetic, autoimmune, and paraneoplastic factors, which requires a broad-ranging evaluation for underlying causes...
July 2015: Muscle & Nerve
https://www.readbyqxmd.com/read/25394917/a-complicated-case-of-metastatic-thymoma
#5
Harriet Mather
This report describes the case of a 49-year-old man who presented to the hospice with severe neuropathic pain, cramps, muscle twitching, generalised sweating, insomnia and anxiety in the context of metastatic thymoma. The symptoms were exquisitely corticosteroid sensitive raising the possibility of an immunogenic aetiology. Morvan's syndrome, a paraneoplastic, immune-mediated syndrome characterised by peripheral nerve hyperexcitability, dysautonomia and central nervous system dysfunction was thus considered...
March 2016: BMJ Supportive & Palliative Care
https://www.readbyqxmd.com/read/24811356/-metabolic-bone-disease-osteomalacia
#6
REVIEW
M A Reuss-Borst
Osteomalacia is a rare disorder of bone metabolism leading to reduced bone mineralization. Underlying vitamin D deficiency and a disturbed phosphate metabolism (so-called hypophosphatemic osteomalacia) can cause the disease. Leading symptoms are dull localized or generalized bone pain, muscle weakness and cramps as well as increased incidence of falls. Rheumatic diseases, such as polymyalgia rheumatica, rheumatoid arthritis, myositis and fibromyalgia must be considered in the differential diagnosis. Alkaline phosphatase (AP) is typically elevated in osteomalacia while serum phosphate and/or 25-OH vitamin D3 levels are reduced...
May 2014: Zeitschrift Für Rheumatologie
https://www.readbyqxmd.com/read/24703738/-epidemiology-clinical-spectrum-of-als-and-differential-diagnoses
#7
Philippe Couratier, Benoît Marin, Géraldine Lautrette, Marie Nicol, Pierre-Marie Preux
Amyotrophic Lateral Sclerosis (ALS) is the most common motor neuron disease in adults. Its incidence in France is estimated at 2.5 per 100,000 population and its prevalence between 5 and 8 per 100,000 inhabitants. Good prognostic factors are age of early onset, a longer time to diagnosis, initial damage to the spinal onset, early management of undernutrition and restrictive respiratory failure. The diagnosis of ALS is primarily clinical and is based on the evidence of involvement of the central motor neuron and peripheral neuron (NMP) in different territories or spinal or bulbar...
May 2014: La Presse Médicale
https://www.readbyqxmd.com/read/24645574/-stiff-person-syndrome-case-report
#8
Kazimierz Tomczykiewicz, Zanna Pastuszak, Jacek Staszewski, Adam Stepień
Stiff person syndrome (SPS) is the rare disease and cause great inefficient. It is characterized by progressive stiffness muscles of trunk and the limbs on which the cramps of muscles overlap. In the electrophysiological investigation of the patients the involuntary discharge of motor unit potentials find and also simultaneous contraction agonistic and antagonistic muscles. SPS is presented with insulin-dependent diabetes mellitus often or is the symptom of the paraneoplastic syndrome. It is commonly associated with high anti-glutamic acid decarboxylaze (GAD) antibody titters in the serum of the blood of patients...
January 2014: Polski Merkuriusz Lekarski: Organ Polskiego Towarzystwa Lekarskiego
https://www.readbyqxmd.com/read/23608302/muscle-cramping-over-the-diagnosis
#9
David R Lally, Mark L Moster, Rod Foroozan
A 44-year-old man with hypogonadism and adrenal insufficiency presented with transient blurred vision and halos around lights. Visual acuity was 20/20 in both eyes, and he had mild bilateral optic disk edema. Brain imaging was unremarkable, and lumbar puncture showed an opening pressure of 28.5 cm H2O with elevated protein. He also complained of muscle cramping, and magnetic resonance imaging of the spine demonstrated a heterogenous bone marrow signal. Bone survey showed a mixed lytic and sclerotic lesion within the left femur that proved to be a plasmacytoma...
January 2014: Survey of Ophthalmology
https://www.readbyqxmd.com/read/22918073/isaac-s-syndrome-associated-with-myasthenia-gravis-and-thymoma
#10
Birinder S Paul, Gagandeep Singh, Rajinder K Bansal, Monika Singla
A 65-year-old male developed fatigable weakness of ocular and bulbar muscle and positive anti-acetyl cholinesterase antibodies suggesting the diagnosis of myasthenia gravis. His condition responded to anticholinesterase and immunotherapy. However, 18 months later, he developed painful paresthesiae, muscle cramps with hyperhiderosis, and was diagnosed as having Isaac's syndrome (neuromyotonia, continuous muscle fibre activity). Computed tomography of the chest revealed a thymic mass, which was confirmed after surgery and histopathology as thymic cell carcinoma...
July 2010: Indian Journal of Medical Sciences
https://www.readbyqxmd.com/read/20420181/-immune-mediated-neuromyotonia-isaacs-syndrome-clinical-aspects-and-pathomechanism
#11
REVIEW
Kimiyoshi Arimura, Osamu Watanabe
Neuromyotonia occurs due to several causes such as hereditary, immune-mediated and degenerative neurological disorders. Isaacs' syndrome (immune-mediated neuromyotonia) is an antibody-mediated potassium channel disorder (channelopathy). Clinical symptoms of Isaacs' syndrome are characterized by muscle cramp, slow relaxation following muscle contraction (pseudomyotonia), and hyperhidrosis; these symptoms are due to hyperexcitability of the peripheral nerve, including autonomic nerve. These symptoms are relieved by the administration of Na channel blocker and immunotherapy...
April 2010: Brain and Nerve, Shinkei Kenkyū No Shinpo
https://www.readbyqxmd.com/read/20420173/-anti-vgkc-antibody-associated-limbic-encephalitis-morvan-syndrome
#12
REVIEW
Tamako Misawa, Hidehiro Mizusawa
Anti-voltage-gated potassium channel antibodies (anti-VGKC-Ab) cause hyperexcitability of the peripheral nerve and central nervous system. Peripheral nerve hyperexcitability is the chief manifestation of Issacs syndrome and cramp-fasciculation syndrome. Morvan syndrome is characterized by neuromyotonia with autonomic and CNS involvement. Manifestations involving the CNS without peripheral involvement are characteristic of limbic encephalitis and epilepsy. The clinical features of anti-VGKC-Ab-associated limbic encephalitis are subacute onset of episodic memory impairment, disorientation and agitation...
April 2010: Brain and Nerve, Shinkei Kenkyū No Shinpo
https://www.readbyqxmd.com/read/18616152/-case-of-antiamphiphysin-antibody-positive-stiff-person-syndrome-with-breast-cancer-diagnosed-by-fdg-pet
#13
REVIEW
Yoshiharu Taguchi, Shutaro Takashima, Yuukichi Inoue, Takuya Nagata, Masashi Shimizu, Kortaro Tanaka
We report a case of antiamphiphysin antiboddy-positive stiff-person syndrome associated with breast cancer, which was detected only by FDG-PET. A 46-year-old woman was admitted to our hospital because of painful muscle cramp and stiffness of both legs. Laboratory results were negative for anti-GAD antibody, but highly positive for antiamphiphysin antibody (1: 61,440). She had been diagnosed as having paraneoplastic stiff-person syndrome. However, mammogram, thoracic CT, breast MRI and ultrasonic echography showed no abnormal findings...
June 2008: Rinshō Shinkeigaku, Clinical Neurology
https://www.readbyqxmd.com/read/16637919/clinical-aspects-of-neuromuscular-transmission-disorders
#14
REVIEW
Amelia Evoli
Autoimmune disorders of neuromuscular transmission are caused by antibodies (abs) directed against membrane proteins at the motor end-plate. Myasthenia gravis (MG) is due, in most cases, to abs against the nicotinic acetylcholine receptor (AChR). Anti-AChR-positive MG actually includes different disease entities: weakness can be confined to extrinsic ocular muscles or can be generalized; patients with generalized MG (G-MG) can be subdivided on the basis of age of onset, HLA association and thymic pathology...
2006: Acta Neurologica Scandinavica. Supplementum
https://www.readbyqxmd.com/read/16482866/neuromuscular-junction-channelopathies-a-brief-overview
#15
REVIEW
John Newsom-Davis
The neuromuscular junction lacks the protection of the blood-nerve barrier and is vulnerable to antibody-mediated disorders. In myasthenia gravis (MG), 85% of patients have IgG antibodies to acetylcholine receptors (AChRs). About half the remaining patients have IgG antibodies to Muscle Specific Kinase (MuSK), an AChR-associated transmembrane post-synaptic protein concerned in AChR aggregation. Bulbar weakness is typically predominant in this form of MG, and females are more often affected. The Lambert-Eaton Myasthenic Syndrome (LEMS) can occur in a paraneoplastic form (P-LEMS) usually with small cell lung cancer, or in a non-paraneoplastic form (NP-LEMS)...
December 2005: Acta Neurologica Belgica
https://www.readbyqxmd.com/read/16340924/-cramp-fasciculation-syndrome
#16
REVIEW
A Lagueny
The cramp-fasciculation syndrome is a rare clinical entity in comparison with the frequency of cramps and isolated fasciculations in the general population. It is recognized as a benign syndrome without weakness and atrophy, however a few reports suggest that it may precede the occurrence of a motor neuron disease. Most often, the cramp-fasciculation syndrome is idiopathic and may be a component of a hyperexcitable peripheral nerve syndrome including other activities such as myokymia and neuromyotonia where antibodies to voltage-gated potassium channels (VGKCs) appear to be one of the effector mechanisms...
December 2005: Revue Neurologique
https://www.readbyqxmd.com/read/12135978/phenotypic-variants-of-autoimmune-peripheral-nerve-hyperexcitability
#17
MULTICENTER STUDY
Ian K Hart, Paul Maddison, John Newsom-Davis, Angela Vincent, Kerry R Mills
Clinicians use many terms including undulating myokymia, neuromyotonia, Isaacs' syndrome and Cramp-Fasciculation Syndrome to describe the motor manifestations of generalized peripheral nerve hyperexcitability (PNH). Our previous findings in a selected group of patients with undulating myokymia or neuromyotonia, and EMG doublet or multiplet ('myokymic') motor unit discharges, indicated that an autoantibody-mediated potassium channelopathy was likely to be the cause of their disorder. This prompted us to search for a common pathogenesis in a wider spectrum of PNH syndromes...
August 2002: Brain: a Journal of Neurology
https://www.readbyqxmd.com/read/9854961/morvan-s-fibrillary-chorea-a-paraneoplastic-manifestation-of-thymoma
#18
E K Lee, R A Maselli, W G Ellis, M A Agius
Morvan's fibrillary chorea is a rare disease characterised by symptoms which include neuromyotonia, cramping, weakness, pruritus, hyperhidrosis, insomnia, and delirium. The first case of Morvan's fibrillary chorea to be associated with clinical manifestations of myasthenia gravis with thymoma, psoriasis, and atopic dermatitis is reported. Muscle histopathology disclosed chronic denervation and myopathic changes and in vitro electrophysiology demonstrated both presynaptic and postsynaptic defects in neuromuscular transmission...
December 1998: Journal of Neurology, Neurosurgery, and Psychiatry
https://www.readbyqxmd.com/read/9222201/a-case-of-hodgkin-s-lymphoma-producing-neuromyotonia
#19
J B Caress, W K Abend, D C Preston, E L Logigian
The syndrome of neuromyotonia produces muscle stiffness, cramps, and frequently, excessive sweating. Most cases are idiopathic, but some are associated with neoplasms, especially immune cell cancers. Voltage-gated potassium channels may be the target of an autoantibody attack in idiopathic generalized neuromyotonia (Isaacs' syndrome). The cases associated with neoplasms may also have an autoimmune etiology. We report the first case of neuromyotonia as the presenting feature of Hodgkin's lymphoma and propose a paraneoplastic mechanism that would link the purported autoimmune etiology in Isaacs' syndrome with the cancer-associated cases...
July 1997: Neurology
https://www.readbyqxmd.com/read/8438855/angioedema-presenting-as-chronic-gastrointestinal-symptoms
#20
S L Eck, J H Morse, D A Janssen, S G Emerson, D M Markovitz
Gastrointestinal complaints may be the presenting feature of patients with acquired or hereditary angioedema. We describe two patients with episodic nausea, abdominal pain, and cramping secondary to C1 inhibitor deficiency. In one patient, an acquired deficiency arose as a paraneoplastic syndrome with abdominal complaints preceding the diagnosis of an occult lymphoma. The second patient presented at age 61 with abdominal complaints secondary to a hereditary deficiency of C1 inhibitor. The patients' symptoms were due to gastrointestinal angioedema, resulting from episodic unregulated complement activation...
March 1993: American Journal of Gastroenterology
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