Presentation
The interest of this case is the unusual presentation and the targeted therapeutic approach that has been used. [ncbi.nlm.nih.gov]
We present this case to highlight the fact that hypothyroidism can present as acute cerebellar ataxia. Case Report A 45-year-old male presented to our hospital with history of unsteadiness of gait since 2 weeks. [jcdr.net]
This case highlights the challenges in the evaluation of a patient who presents with a cerebellar syndrome. [karger.com]
Entire Body System
- Movement Disorder
To further enhance the scope and quality of this new edition, the following Section Editors provided oversight of their respective sections: - Movement Disorders-Joel Perlmutter, Washington University - Dementias-David Knopman, Mayo Clinic - Motorneuron [books.google.com]
Liu GT, Volpe NJ and Galetta SL (1995) Eye movement disorders. Current Opinion in Ophthalmology 6: 27. [els.net]
Presentation As the cerebellum is associated with motor control, lesions produce a range of movement disorders (ataxias). These can be differentiated by their time course. [patient.info]
Peripheral neuropathy (25%) Onset: Often subacute Distribution: Sensory-motor; Polyradiculopathy Often associated alternative causes Cranial neuropathy: VI; VIII (Deafness or Tinnitus) Movement disorder (25%) Laryngospasm Dystonia: Jaw opening or Neck [neuromuscular.wustl.edu]
- Falling
She further endorsed dizziness upon standing, dysphagia, falls, and increasing difficulty working her retail job. History included hypothyroidism well controlled with levothyroxine after thyroid ablation for thyroiditis. [amjmed.org]
The gait was wide-based and there was a tendency to fall to left side. Tandem walking was impaired. His fundus was normal. His power and reflexes were normal. Sensory system was normal. There was no evidence of autonomic dysfunction. [jcdr.net]
Truncal ataxia Patients can't sit or stand unsupported and tend to fall backwards. It is caused by a midline cerebellar lesion, or may be a feature of post-chickenpox cerebellar syndrome. [patient.info]
She also noticed difficulty in walking in the form of imbalance and tendency to fall more towards the left. She doesn’t give any history of loss of consciousness, convulsion, headache, visual complaints and bulbar symptoms. [pubs.sciepub.com]
Other clinical signs include early falling and fine myoclonic jerks of the fingers /limb and can be elicited by tapping the limb. The cerebellar syndrome is usually subtle with gait and limb ataxia, nystagmus and dysarthria. [neuroweb.us]
- Malnutrition
Conclusions: This case illustrates the importance of evaluating post bariatric surgery patients with neurological symptoms for thiamine deficiency due to a risk of malnutrition. [neurology.org]
[…] but affects also demented people who neglect their nutrition, patients with gastric cancer, persons who have had bariatric surgery, gastrectomy (sometimes appearing many years after the procedure), hyperemesis gravidarum, anorexia nervosa, and other malnutrition [neuropathology-web.org]
Chronic progressive ataxias Commonly caused by chronic alcohol abuse associated with malnutrition. May improve with thiamine. May also occur with other deficiencies, including zinc and vitamin E. [patient.info]
The diagnosis of Wernicke encephalopathy is very suggestive after glucose load in chronic malnourished alcoholics but also occurs in other thiamine deficiency states (parenteral malnutrition, hyperemesis, impaired gastrointestinal function). [neuroweb.us]
Gastrointestinal
- Dysphagia
In the follow-up this patient developed oropharynx whitened lesions, dysphagia and worsening gait. Serology HIV test was positive and a brain MRI showed cerebellar atrophy. CSF exam showed hyperproteinorrachia of 51.9 mg. [mdsabstracts.org]
She further endorsed dizziness upon standing, dysphagia, falls, and increasing difficulty working her retail job. History included hypothyroidism well controlled with levothyroxine after thyroid ablation for thyroiditis. [amjmed.org]
There was also no history suggestive of higher mental function abnormality, diplopia, drooping of eyelids, blurring of vision, facial deviation, dysphagia, dysphonia, breathing difficulty. [omicsonline.org]
Neurological deficits are sometimes preceded by prodromal symptoms, such as a nausea ,vomiting a viral-like illness, that might be attributed to a peripheral vestibular process, These symptoms are followed by dysarthria,, dysphagia. and ataxia, initially [panafrican-med-journal.com]
These symptoms are followed by ataxia of the limbs and midline, oscillopsia, dysarthria, tremor, and sometimes dysphagia and blurry vision. The ocular motor and bulbar abnormalities suggests some degree of brain stem involvement. [emedicine.medscape.com]
Neurologic
- Ataxia
ataxia Cerebellar ataxia (loss of muscle coordination) Cerebellar ataxia due to toxin Cerebellar ataxia, early-onset Cerebellar ataxia, late-onset Drug-induced cerebellar ataxia Early onset cerebellar ataxia Early onset cerebellar ataxia with essential [icd9data.com]
In cerebellar ataxia, the most often used specific scales for the severity of cerebellar ataxia in previous studies were the scale for the assessment and rating of ataxia (SARA) [ 5, 10, 16, 56 – 59 ] and international cooperative ataxia rating scale [intechopen.com]
The National Ataxia Foundation. http://www.ataxia.org/about/national‐ataxia‐foundation.aspx [els.net]
Genetic: there are a number of inherited cerebellar ataxias: Many of these present in adulthood. Examples are Friedreich's ataxia (the most common) and ataxia telangiectasia. Metabolic and endocrine: Cerebral oedema of chronic hypoxia. [patient.info]
Hypothyroidism should be considered in all cases of cerebellar ataxia as it is a reversible cause of ataxia. There is hardly any recent published data on hypothyroidism causing ataxia. [jcdr.net]
- Cerebellar Ataxia
ataxia Cerebellar ataxia (loss of muscle coordination) Cerebellar ataxia due to toxin Cerebellar ataxia, early-onset Cerebellar ataxia, late-onset Drug-induced cerebellar ataxia Early onset cerebellar ataxia Early onset cerebellar ataxia with essential [icd9data.com]
[…] of physical therapy for cerebellar ataxia. [intechopen.com]
We report an autopsied patient who initially presented signs of cerebellar ataxia. After seven months, small cell carcinoma of the lung was revealed. [ncbi.nlm.nih.gov]
Cerebellar Ataxia – The First Symptom of HIV Infection [abstract]. Mov Disord. 2017; 32 (suppl 2). http://www.mdsabstracts.org/abstract/cerebellar-ataxia-the-first-symptom-of-hiv-infection/. [mdsabstracts.org]
This article specifically focuses on acquired causes of cerebellar ataxia. A separate complementary article discusses common hereditary causes of cerebellar ataxia. [els.net]
- Dysarthria
Inherited periodic ataxia, dysarthria, nystagmus and vertigo. [patient.info]
Laboratory Report Clinical Significance Anti-CV2, anti-Hu, anti-Ma, anti-Ta, anti-Ri, anti-Yo, anti-Zic4 antibodies, and anti-GAD65 are found in patients with acute or subacute symptoms of cerebellar degeneration including gait ataxia, nystagmus and/or dysarthria [questdiagnostics.com]
After resection, his paralysis and dysarthria were resolved to the extent of being able to walk and speak fluently. Brain MP-RAGE showed no findings suggestive of metastasis or atrophy. [dear-medic.jp]
Subsequently, the patient showed moderate improvement in ataxic dysarthria, slow saccades and hemispherical cerebellar signs with marginal improvement in truncal ataxia. [annalsofian.org]
Other ACR CRITERIA American Journal of Neuroradiology August 2008, 29 (7) 1420-1422; Ataxia is manifested by a wide-based unsteady gait, errors of extremity trajectory or placement, errors in motor sequence or rhythm and/or by dysarthria. 1 Tone is usually [ajnr.org]
- Nystagmus
Inherited periodic ataxia, dysarthria, nystagmus and vertigo. [patient.info]
Slurred speech and vertical nystagmus gradually appeared. [journals.lww.com]
Her examination revealed a right horizontal beating nystagmus and a normal sensory, motor and gait examination. Review of her MRI Brain revealed mild diffuse cerebellar degeneration but otherwise normal. [neurology.org]
Range(s) See Laboratory Report Clinical Significance Anti-CV2, anti-Hu, anti-Ma, anti-Ta, anti-Ri, anti-Yo, anti-Zic4 antibodies, and anti-GAD65 are found in patients with acute or subacute symptoms of cerebellar degeneration including gait ataxia, nystagmus [questdiagnostics.com]
We report the case of a 76-year-old woman with breast carcinoma and anti-Ri antibody-mediated PCD along with ataxia, opsoclonus, torsional nystagmus, and eyelid myokymia, who improved after tumor resection and immunotherapy. [neurologyindia.com]
- Encephalopathy
Hashimotos Encephalopathy presenting as progressive cerebellar ataxia. J Neurol Neurosurg Psychiatry. 2007;8:1967. Tables and Figures [Table / Fig - 1] [jcdr.net]
Zhou JY, Xu B, Lopes J, et al: Hashimoto encephalopathy: literature review. Acta Neurol Scand 2017; 135:285–290. Kothbauer-Margreiter I, Sturzenegger M, Komor J, et al: Encephalopathy associated with Hashimoto thyroiditis: diagnosis and treatment. [karger.com]
Thallium; Lithium; Amitriptyline Diabetic hyperosmolar coma Encephalitis: Viral; Post-infectious Intracranial lesions: Tumor; hydrocephalus; Thalamic hemorrhage Hereditary: KCTD7 mutations Opsoclonus/Myoclonus: Adults Clinical Associated features: Encephalopathy [neuromuscular.wustl.edu]
Subacute spongiform encephalopathies. Top Magn Reson Imaging 2005 ; 16 : 213 –19 ↵ De Bruecker Y, Claus F, Demaerel P, et al. MRI findings in acute cerebellitis. Eur Radiol 2004 ; 14 : 1478 –83 ↵ Adachi M, Kawanami T, Ohshima H, et al. [ajnr.org]
The age of onset of the encephalopathy ranges from 17 - 51 years. [neuroweb.us]
Workup
Subsequent workup by primary care physician revealed thiamine deficiency and normal TSH, B12 and folate. She started thiamine supplementation. [neurology.org]
The image below illustrates the workup of paraneoplastic cerebellar degeneration. The workup of paraneoplastic cerebellar degeneration. [emedicine.medscape.com]
PCD presents with an acute/subacute severe pancerebellar syndrome and should lead to prompt and extensive diagnostic workup. Early detection and management of the underlying malignancy is imperative to modify the prognosis of the condition. 1. [annalsofian.org]
MR
- MRI Shows Cerebellar Atrophy
Brain MRI showed cerebellar atrophy. He was admitted to our hospital for anal bleeding and was diagnosed with colon cancer. An associated diagnosis of PCD was made. [dear-medic.jp]
Serology HIV test was positive and a brain MRI showed cerebellar atrophy. CSF exam showed hyperproteinorrachia of 51.9 mg. Viral HIV load was 24880 and CD4 count of 65. [mdsabstracts.org]
Brain MRI may show predominantly cerebellar atrophy and signal changes on T2 in the putamina. [neuroweb.us]
Treatment
A trial using this new type of treatment should be performed in patients who have this therapeutically refractory clinical condition. [ncbi.nlm.nih.gov]
Early treatment (within first three months of symptoms) with immunotherapy may improve long term outlook. There are rare reports of people who have improved without treatment. [rarediseases.info.nih.gov]
Coverage includes major updates on genetics of diseases, new diagnostic techniques, and the newest treatment options. This second volume covers tumors, the phacomatoses, and vascular disease. [books.google.com]
Treatments have been variable and unpredictable. [ahcmedia.com]
Prognosis
No correlation of the prognosis was seen with the type or stage of Hodgkin's lymphoma. [annalsofian.org]
Prognosis of patients with cancer presenting with PNS is better compared to those without PNS due to detection of cancer at early stage although the prognosis may be bad due to severe neurological morbidity [ 4 ]. [omicsonline.org]
These evaluations may demonstrate that the patient requires rehabilitation following discharge, and, depending upon the prognosis, even long-term placement in a skilled nursing facility. F. Prognosis and Patient Counseling. [clinicaladvisor.com]
The disease has a poor prognosis and often results in severe disability. Treatments have been variable and unpredictable. [ahcmedia.com]
Onset Time: Before or after neoplasm Symptoms: Pain in back or Radiating to legs Weakness: Flaccid paraplegia Sensory loss: All modalities Sphincter paralysis Reflexes: Tendon reduced; ± Extensor plantar Course Progressive: Ascending paralysis Poor prognosis [neuromuscular.wustl.edu]
Etiology
Code First Code First Help Certain conditions have both an underlying etiology and multiple body system manifestations due to the underlying etiology. [icd10data.com]
結節性硬化症 Tuberous sclerosis complex (TSC), unknown genetic etiology 結節性硬化症、遺伝子型不明 1 不要 有 HPS2395 HPS2396 HPS2397 HPS2398 HPS2399 HPS2400 159. [cell.brc.riken.jp]
Etiology Diffuse atrophy can result from a variety of causes: normal aging alcoholic cerebellar degeneration drugs, e.g. phenytoin cerebellar degeneration chronic temporal lobe epilepsy (independently from phenytoin use) 7 cerebellitis multiple system [radiopaedia.org]
Conclusions : HIV infection should be considered as an etiology in clinical setting of subacute cerebellar ataxia, particularly in a young or immunocompromised patient. To cite this abstract in AMA style: L. Beltrami, J. Kristochik, M. Novaes, G. [mdsabstracts.org]
An etiologic association between cancer and cerebellar degeneration was first clearly postulated by Lord Russell Brain in 1951 ( Brain et al 1951 ). [medlink.com]
Epidemiology
Plasma exchange Ataxia with antibodies to CARP 8 10 Epidemiology: 1 patient; 77 year old female Clinical: Pure cerebellar syndrome Onset: 3 years after neoplasm Ataxia: Limb; Truncal; Gait; Dysarthria Ocular: Horizontal nystagmus Mental status: Normal [neuromuscular.wustl.edu]
Epidemiology Frequency United States In one study, paraneoplastic cerebellar degeneration was observed in 25% of paraneoplastic neurologic syndromes, occurring in 2 of every 1000 patients with cancer. [12] Mortality/Morbidity In the study cited above, [emedicine.medscape.com]
Epidemiology and estimated population burden of selected autoimmune diseases in the United States. Clin Immunol Immunopathol 1997; 84: 223-43. In article View Article PubMed [2] Golden SH, Robinson KA, Saldanha I, Anton B, Ladenson PW. [pubs.sciepub.com]
Pathophysiology
Not all gynecologic cancers present as paraneoplastic neurologic syndrome; however, in a clinical presentation consistent with a paraneoplastic neurologic syndrome, the chances of underlying malignancy are very high. " "Pathophysiology: Paraneoplastic [usmleforum.com]
Pathophysiology [ edit ] The anti-Purkinje cell antibodies originally described in PCD led to the hypothesis that the antibody might be pathogenic, much as earlier studies had demonstrated pathogenicity of anti-acetylcholine receptor antibodies in myasthenia [en.wikipedia.org]
Pathophysiology Paraneoplastic cerebellar degeneration is caused by the secondary effects of cancer and is believed to be immune mediated. [emedicine.medscape.com]
Pathophysiology of this syndrome is not entirely understood but onconeural antibodies suggest that it is an immune mediated state in which body may produce antibodies against tumor cells and these antibodies cross react with cerebellar tissue and destroy [omicsonline.org]
A case of finger clubbing associated with nasopharyngeal carcinoma in a young girl, and review of pathophysiology. J Pak Med Assoc 2009; 59(4): 253-4. [ PubMed ] 29. Garganese MC, et al. [medical.nikkeibp.co.jp]
Prevention
Since 2005, he also acts as director of the Department of Clinical Medicine and Preventive Medicine at the Danube University. His main scientific interests focus on cerebrovascular disorders including early treatment and rehabilitation. [books.google.de]
Página 310 - A randomized trial comparing ticlopidine hydrochloride with aspirin for the prevention of stroke in high-risk patients. [books.google.es]
At the same time, underlying complications were prevented actively, and the peripheral nerves were protected. [journals.lww.com]
All these changes can be prevented (and in their early stages, reversed) by vitamin B12 administration. Updated: May, 2017 [neuropathology-web.org]
Treatment [ edit ] Tumor removal is still the therapeutic mainstay with very early treatment being essential to prevent irreversible neuronal loss. Immunosuppressive or immunomodulatory treatments are often ineffective. [en.wikipedia.org]