Intermittent Weakness Research Articles

Chordomas and Their Consideration in the Radiographic Differential of Extra-Axial Lesions of the Central Nervous

Due to the rare occurrence of chordomas extra-axially, these lesions have not earned a great deal of consideration in the clinical and radiographic differential diagnoses of extra-axial paraspinal lesions. We describe a case of a patient with a surgically resected extra-axial chordoma and review the radiologic characteristics of chordomas as an entity in the spectrum of extra-axial lesions. A 47-year-old man presented to our institution with four months of intermittent parethesias, pain, and subjective weakness in the left leg. MR imaging of the lumbar spine demonstrated a large heterogeneously- enhancing paraspinal lesion extending from the left L3-4 neural foramen into the psoas muscle. The patient underwent a CT-guided needle biopsy demonstrating features consistent with a chordoma. He then underwent a left retroperitoneal approach and en bloc resection of the lesion from the vertebral column. Pathology confirmed chordoma as the diagnosis. EACs are a rare but important consideration in the diagnosis of extra-axial lesions of the central nervous system.

Bipolar Disorder Co-Occurring With Periodic Paralysis: A Case Report

Bipolar Disorder Co-Occurring With Periodic Paralysis: A Case Report

Intermittent Claudication-like Syndrome Secondary to Atherosclerosis in a Yellow-naped Amazon Parrot (Amazona ochrocephala auropalliata)

A 25-year-old yellow-naped Amazon parrot (Amazona ochrocephala auropalliata) was presented for nasal discharge and sneezing. Physical examination revealed poor feather quality, a mild serous nasal discharge, and a mass on the dorsal surface of the oral cavity. Cytologic examination of a mass aspirate as well as results of a choanal culture revealed squamous metaplasia of the salivary glands and bacterial rhinitis, respectively. Following resolution of the presenting conditions, the patient was presented for hind limb weakness and ataxia. The clinical signs were transient and generally resolved with rest but could be reproduced after stressful episodes, such as restraint for procedures or treatment. Test results from a complete blood count, biochemistry profile, whole-body radiographs, needle electromyography of the leg muscles, and an edrophonium challenge test were within reference limits. Based on the clinical signs and results of the diagnostic workup, the presumptive diagnosis was intermittent claudication, a condition caused by peripheral vascular disease and defined as intermittent weakness and pain in the legs induced by exercise and relieved by rest. Shortly after initiation of treatment with isoxsuprine, the bird died. Postmortem examination and histopathology revealed severe atherosclerotic lesions throughout the vascular system with stenotic lesions present in the abdominal aorta and femoral arteries. Electron microscopic examination of the great arteries was also performed and helped to further characterize the nature of the lesions. This case is the first report, to our knowledge, of an intermittent claudication-like syndrome associated with peripheral atherosclerosis in a psittacine bird. In addition, the distribution and some of the macroscopic and histopathologic features of the lesions differ from previous descriptions of atherosclerosis in psittacine birds.

Thoracic Outlet Syndrome With Involvement of the Cervical Sympathetics Because of Idiopathic Tumoral Calcinosis

A 38-yr-old woman reported intermittent pain, paresthesia, and weakness in the right upper limb and sweating on the right side of her face and ipsilateral upper limb during the last 4 yrs. Eventually, she was diagnosed with thoracic outlet syndrome, whereby sympathetic nervous system involvement was thought to ensue because of idiopathic tumoral calcinosis in the neck region. To our best knowledge, this is the first report of such a concomitance.

Cervical pneumatocyst

The authors present the case of a 56-year-old right hand-dominant woman who was referred for chronic neck pain and a second opinion regarding a cervical lesion. The patient's pain was localized to the subaxial spine in the midline. She reported a subjective sense of intermittent left arm weakness manifesting as difficulty manipulating small objects with her hands and fingers. She also reported paresthesias and numbness in the left hand. Physical and neurological examinations demonstrated no abnormal findings except for a positive Tinel sign over the left median nerve at the wrist. Electromyography demonstrated bilateral carpal tunnel syndrome with no cervical radiculopathy. Cervical spine imaging demonstrated multilevel degenerative disc disease and a pneumatocyst of the C-5 vertebral body. The alignment of the cervical spine was normal. A review of the patient's cervical imaging studies obtained in 1995, 2007, 2008, and 2010 demonstrated that the pneumatocyst was not present in 1995 but was present in 2007. The lesion had not changed in appearance since 2007. At an outside institution, multilevel fusion of the cervical spine was recommended to treat the pneumatocyst prior to evaluation at the authors' institution. The authors, however, did not think that the pneumatocyst was the cause of the patient's neck pain, and cervical pneumatocysts typically have a benign course. As such, the authors recommended conservative management and repeated MR imaging in 6 months. Splinting was used to treat the patient's carpal tunnel syndrome.

PDH deficiency: identification of a novel mutation in the PDHA1gene in twins with intermittent weakness, resembling Guillain-Barré syndrome

PDH deficiency: identification of a novel mutation in the PDHA1gene in twins with intermittent weakness, resembling Guillain-Barré syndrome

A Case of Thyrotoxic Periodic Paralysis in Adolescent with Graves' Disease

Thyrotoxic periodic paralysis (TPP) is a rare complication of hyperthyroidism characterized by recurrent paralysis of skeletal muscle and hypokalemia caused by a massive intracellular shift of potassium. TPP mainly affects young male patients of Asian descent. We describe a case of TPP in a 14-year-old girl who presented with palpitation and intermittent weakness of the lower extremities especially after physical exercises. The patient showed sinus tachycardia, proximal weakness of both legs and a severe hypokalemia. Thyroid function tests showed hyperthy- roidism, and thyroid scan revealed diffusely enlarged goiter consistent with Graves' disease. After the management with antithyroid drug, beta-adrenergic blocker and potassium supplementation for TPP, she has remained euthyroid state and symptom free on the follow-up. TPP should be considered in children with acute paralysis of skeletal muscle and hypokalemia, also thyroid function should be evaluated.

Retrospective analysis of an implantable loop recorder for evaluation of syncope, collapse, or intermittent weakness in 23 dogs (2004–2008)

Objectives Cardiac arrhythmias as a cause of syncope, collapse, or intermittent weakness can be challenging to diagnose. The purpose of this paper is to retrospectively review the diagnosis and outcome of 23 cases of syncope or collapse in dogs that had a Reveal ® Plus ILR recorder placed as part of the diagnostic evaluation. Animals, materials and methods Medical records of 23 client-owned dogs that were presented for evaluation of syncope, collapse, or intermittent weakness were retrospectively reviewed. Results Recurrent syncope occurred in 13/23 (57%) and a positive diagnosis of the cause of the event was made in 11/13 (48% of all dogs). Diagnoses included 6/11 with prolonged periods of sinus arrest with slow ventricular escape rate and one each of sub-optimal fixed heart rate by endocardial pacing, high grade second degree atrioventricular block, supraventricular tachycardia, normal ECG during multiple episodes, and high grade second degree atrioventricular block or sinus arrest. Conclusions The Reveal ® Plus ILR device was successful in diagnosing a high percentage of cases of syncope or collapse in which signs recurred and implantation had a low complication rate. The Reveal ® Plus ILR device is a useful tool to diagnose the etiology of recurrent syncope, collapse, or intermittent weakness in the dog.

Optic nerve MRI enhancement in posterior ischaemic optic neuropathy due to internal carotid artery dissection

Posterior ischaemic neuropathy (PION) is characterized by infarction in the retrobulbar optic nerve. A 73-year-old man suddenly experienced blurred vision in his left eye and intermittent weakness in his right hand. He had visual defects of superior lateral quarter and inferior medial quarter areas in the left eye. Gadolinium-enhanced magnetic resonance imaging (MRI) revealed segmental enhancement in the left optic nerve. A cerebral angiogram showed a left internal carotid dissection (ICD). He did not have fever, and his laboratory and cerebrospinal fluid tests were normal. These findings were suggestive of PION associated with ICD. No reports of PION caused by ICD has been reported and his is the first case in which MRI showed optic nerve enhancement due to ICD.

Arginine Mutations in the S4 VSD of NaV1.4 Associated with Hypokalemic Periodic Paralysis, But Not with Paramyotonia, Create a Gating Pore Conductance

Hypokalemic periodic paralysis (HypoPP) is a dominantly inherited disorder of skeletal muscle in which attacks of weakness occur as a result of inexcitability from persistent depolarization. Thirteen missense mutations have been identified in HypoPP, and remarkably all occur at arginines in S4 voltage sensor domains (VSD) of sodium channels (NaV1.4, 8 mutations) or calcium channels (CaV1.1, 5 mutations). Prior studies have shown that all five HypoPP mutations in the outermost two arginines of DIIS4 in NaV1.4 cause an accessory permeation pathway or “gating pore”. Recently, an R1132Q mutation has been identified in DIIIS4 of NaV 1.4 in a family with HypoPP. We used the cut-open oocyte voltage-clamp to demonstrate that rat NaV1.4 R1125Q (homologous to human R1132Q) has a hyperpolarization activated cation current consistent with an accessory gating pore. The amplitude of the current, normalized to total gating charge displacement, was 150 nA/nC at −140 mV in 115 mM [K+]o . Selectivity for cations was K+> Na+>> NMDG+. Paramyotonia congenita (PMC), a disorder with prominent myotonia and intermittent weakness with cooling or high [K+]o, is associated with mutations in NaV1.4 which include VSD mutations at R1448 in DIVS4. Rat NaV1.4 R1441C (homologue of human R1448C PMC mutation) expressed robustly in oocytes but failed to demonstrate any gating pore current. Gating pore currents have been detected for all six HypoPP mutations tested to date, now including the first example in DIIIS4. Importantly, we have also shown that an R→C VSD mutation in DIVS4 associated with paramyotonia, but not HypoPP, does not have a gating pore current. This supports the hypothesis that gating pore currents underlie the abnormal depolarization and paralysis observed in HypoPP.

Resuscitated sudden cardiac death in Andersen-Tawil syndrome

Andersen-Tawil Syndrome (ATS) is an autosomal dominant or sporadic disorder characterized by ventricular arrhythmias, periodic paralysis and distinctive facial and skeletal dysmorphology [1-3]. ATS is notable for its variable penetrance (not all subjects manifest all three phenotypes) and variable expressivity (the severity of the expressed phenotype varies considerably). The neuromuscular manifestations of ATS consist of intermittent weakness, often in the setting of progressive interictal weakness. The distinctive physical characteristics include low-set ears, micrognathia, syndactyly, clinodactyly, short stature and scoliosis. Cardiac manifestations of ATS include QT and QU interval prolongation, prominent U waves, frequent premature ventricular contractions (PVCs), polymorphic ventricular tachycardia (VT) and bidirectional VT [3,4]. Although the burden of ventricular ectopy is often high in patients with ATS [5], degeneration into life-threatening arrhythmias is relatively uncommon [6]. Distinguishing individuals with stable, but frequent ventricular ectopy and those at risk for sudden cardiac death remains a challenge. Dominant-negative mutations in KCNJ2, the gene encoding the inward rectifier potassium channel Kir2.1, account for the majority of ATS cases. However, nearly 30% of ATS patients do not have an identifiable mutation in KCNJ2, confirming the genetic heterogeneity of this disorder [7]. Interestingly, there are no obvious phenotypic differences that distinguish individuals with and those without a mutation in KCNJ2. Likewise, it is not clear that patients with KCNJ2 mutations are at greater, lower or similar risk of life-threatening arrhythmias, compared to those who are KCNJ2-mutation negative. In this report, we present a 15-year-old female with KCNJ2-mutation negative ATS who experienced a life-threatening cardiac event with devastating clinical consequences.

Pheochromocytoma in an African Warthog (Phacochoerus aethiopicus)

A 14-yr-old male African warthog (Phacochoerus aethiopicus) with a chronic history of intermittent unilateral epistaxis, degenerative osteoarthritis, and intermittent weakness in the distal lumbar trunk was evaluated to determine the source of epistaxis. No obvious cause was determined, and in light of severe osteoarthritis and a holosystolic cardiac murmur, the animal was euthanized. A tumor of the right adrenal gland involving the medulla was found at gross necropsy. Immunohistochemical staining of the tumor was positive for chromogranin and negative for neurofilament protein, which was diagnostic for pheochromocytoma. No lesions were observed in either nasal cavity. Systolic, diastolic, and mean arterial pressures measured at the time of immobilization were elevated when compared with another African warthog immobilized with a similar anesthetic regimen. Additionally, the warthog had pronounced serum norepinephrine dominance with a norepinephrine:epinephrine ratio of 10.0, compared with 0.36 from clinically normal warthogs. Practitioners should consider pheochromocytoma when evaluating warthogs or swine for epistaxis.

Cirrhosis Originally Diagnosed as Nonalcoholic Steatohepatitis

A 52-year-old white woman with a presumptive diagnosis of cirrhosis attributed to nonalcoholic steatohepatitis was referred for a liver transplant consultation. The patient reported increased abdominal discomfort, swelling, and lower extremity edema beginning 7 years earlier, as well as intermittent nausea, weakness, and confusion which had increased in frequency during the previous year. While undergoing a cholestectomy for gallstones 2 years previously, the patient was noted to have ascites and a cirrhotic-appearing liver. Results of routine laboratory tests and an abdominal ultrasound performed at that time were consistent with cirrhosis. The patient, a married housewife with 1 adult son, had a physical appearance that suggested chronic illness but was in no acute distress. She denied any history of drug or alcohol use and reported never having received a blood transfusion. She had no history of childhood liver disease and was unaware of any family history of gastrointestinal malignancy or liver disease. The patient did report, however, that 2 of her 7 siblings died from unknown causes as infants, her father died while in a coma of unknown etiology, her mother died from diabetic complications, and a third sibling died of a gynecologic cancer. The patient’s medical history was remarkable for obesity, gastroesophageal reflux disease, recurrent urinary tract infections, and arthritis. Physical examination was unremarkable, with the exception of mildly icteric sclera, spider nevi on the anterior chest wall, and bilateral lower extremity edema. Moderately decreased breath sounds in her lower left lung were also noted. Chest x-rays and spirometry were unremarkable. Laboratory data were consistent with end-stage liver disease and also revealed mild anemia as well as thrombocytopenia and chronic kidney disease. Although at the time of her referral to our institution the patient had a presumptive diagnosis of cirrhosis related to nonalcoholic steatohepatitis, we investigated other causes for her …

Fibromuscular Dysplasia of Bilateral Brachial Arteries Treated with Surgery and Consecutive Thrombolytic Therapy

A 61-year-old female was admitted to our hospital complaining of paresthesia, pain, and intermittent weakness in the right hand. A pulsating mass with bruits had developed on the patient's upper arm. We also noted an absence of radial artery pulsation. The angiographic findings revealed a classic "string of beads" appearance, which involved both brachial and renal arteries. The right brachial artery exhibited an aneurysm, which was filled with thrombus, and the distal radial artery was occluded with thromboemboli. We excised the abnormal brachial artery segment, replacing it with an autogenous reversed saphenous vein conduit. Consecutive thrombolytic therapy was then performed for the treatment of the radial artery embolism. Histological examination revealed that the patient was suffering from medial fibromuscular dysplasia. This uncommon form of fibromuscular dysplasia, which involves both brachial arteries with embolization, can be efficiently treated via surgery and consecutive thrombolytic therapy.

Late-onset multiple acyl-CoA dehydrogenase deficiency: A frequently missed diagnosis?

Multiple acyl-CoA dehydrogenase (MAD) deficiency is caused by inherited deficiency of electron transfer flavoprotein (ETF) or ETF:ubiquinone oxidoreductase.1 The disease course is highly variable ranging from the neonatal (lethal) form with congenital abnormalities (type I), hypoglycemic encephalopathy without congenital abnormalities (type II), to myopathy (type III).1 Homozygosity for null mutations is usually associated with type I, whereas little residual activity is found in type II, and a relatively high residual activity in type III.2 Some patients with late-onset MAD deficiency have been reported previously but few have been described in detail.3,4 A 56-year-old man presented with progressive proximal myopathy of unknown origin. His family history and development were unremarkable. Before the onset of symptoms his exercise tolerance was unimpaired. His nutrition was predominantly based on animal products and was rich in fat and protein; alcohol abuse was not reported. At age 42 years he started having intermittent weakness and pain predominantly of the proximal limbs which was …

Epidural Arteriovenous Fistula in the Cervical Spine Associated with Unilateral Upper Extremity Pain - A Case Report -

We experienced a rare case of an epidural arteriovenous fistula, which presented with symptoms similar to those of cervical radiculopathy. An 18-years-old woman suffered from neck pain, which radiated to the left upper extremity for 4 months. On neurologic examination, there were sensory impairments of the left C4 to C8 dermatomes and intermittent weakness in both lower extremities after exercise. An MRI of the cervical spine demonstrated a mass, which produced a serpentine-like signal void within the spinal canal from C1 to C7. The feeding artery of the fistula and the arterialized epidural venous plexus within the spinal canal were found on vertebral angiography. One year after an endovascular embolization with platinum coils, the clinical symptoms resolved and complete resolution of the arteriovenous fistula was confirmed by angiogram and MRI scan.

Aortic Root Anomalies of the Neck Presenting in Adults. Review of the Literature with Three Case Reports

Aortic Root Anomalies of the Neck Presenting in Adults. Review of the Literature with Three Case Reports

Catastrophic Antiphospholipid Syndrome

Catastrophic Antiphospholipid Syndrome

Clinical usefulness of cardiac event recording in dogs and cats examined because of syncope, episodic collapse, or intermittent weakness: 60 cases (1997-1999).

To determine the clinical usefulness of cardiac event recording in evaluating dogs and cats with unexplained syncope, episodic collapse, or intermittent weakness. Retrospective study. 58 dogs and 2 cats. Medical records and electrocardiographic rhythm strips obtained by cardiac event recordings were reviewed. Cardiac rhythm data from the event recordings were classified as diagnostic or nondiagnostic. Diagnostic yield was calculated by dividing the number of animals for which cardiac event recording was diagnostic by the total number of animals undergoing cardiac event recording. For 51 animals, cardiac event recording was classified as diagnostic; therefore, overall diagnostic yield was 85%. Diagnostic yield was lower for animals without underlying structural heart disease (75.5%) than for animals with structural heart disease (95.6%). A specific arrhythmia was identified as the cause of clinical signs in 18 of the 51 (35%) animals for which cardiac event recording was diagnostic. Cardiac arrhythmia was definitively excluded as the cause of clinical signs in the remaining 33 (65%) animals in which cardiac event recording was diagnostic. Results indicate that cardiac event recording had a high diagnostic yield in dogs and cats examined because of unexplained syncope, episodic collapse, or transient weakness and ataxia, regardless of whether animals did or did not have an underlying structural heart disease. Diagnostic yield of cardiac event recording was higher than that reported previously for Holter monitoring.

Wide-Complex Tachycardia After Colectomy

A 72-year-old man was hospitalized for treatment of infective endocarditis. The diagnosis was made after one month of intermittent fever, weakness, and malaise, when blood cultures were found to be positive for Staphylococcus aureus and an echocardiogram showed a vegetation on the mitral valve. The patient had had coronary bypass surgery 11 years earlier with vein grafts to the left anterior descending and right coronary arteries. Balloon angioplasty had been performed on the left circumflex artery two years before the current admission.Therapy was begun with gentamicin and vancomycin; after three days, nafcillin and rifampin were substituted. The fever resolved and the patient improved clinically. However, his anemia worsened, and stools were guaiac-positive. Colonoscopy showed a carcinoma of the ascending colon, and a right hemicolectomy was performed. On the third postoperative day, a rapid irregular cardiac rhythm was noted. The ECG is shown.