Presentation
The interest of this case is the unusual presentation and the targeted therapeutic approach that has been used. [ncbi.nlm.nih.gov]
This case highlights the challenges in the evaluation of a patient who presents with a cerebellar syndrome. [karger.com]
Given the continued number of procedures yearly, thiamine deficiency symptoms may be a presenting complaint in neurology clinics. [neurology.org]
Entire Body System
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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]
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Constitutional Symptom
There were no constitutional symptoms, headache, hearing or visual disturbance. [karger.com]
The likelihood of PCD is increased by the presence of constitutional symptoms (e.g., weight loss) and multiaxial neurological involvement (e.g., peripheral neuropathy, muscle or neuromuscular disease, ocular manifestations such as opsoclonus and myoclonus [neurologyindia.com]
Respiratoric
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Respiratory Distress
Failure to recognize this disease process can cause life-threatening respiratory distress. [ncbi.nlm.nih.gov]
Gastrointestinal
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Recurrent Vomiting
Causes of thiamin deficiency include alcoholism, recurrent vomiting, gastric surgery, and diets poor in this B vitamin. [4] These cases are referred to as alcoholic/nutritional cerebellar degeneration. [rarediseases.info.nih.gov]
Arginase deficiency: This autosomal recessive disorder presents with e pisodes of hyperammonemia associated with history of recurrent vomiting, episodes of ataxia, headache and dysarthria. [neuroweb.us]
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Right Upper Quadrant Pain
She, then, developed right upper quadrant pain due to choleliathesis and pancreatitis for which she had a laparoscopic cholecystectomy. [neurology.org]
Neurologic
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Ataxia
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]
Balegno S, Ceroni M, Corato M, et al: Antibodies to cerebellar nerve fibres in two patients with paraneoplastic cerebellar ataxia. Anticancer Res 2005; 25:3211–3214. [karger.com]
Most symptoms (such as ataxia and vision problems) can be reversed if detected and treated promptly. However, improvement in memory function and cognitive skills may be slow and, usually, incomplete. [rarediseases.info.nih.gov]
The nosology of cerebellar degenerations, which has been the subject of much debate for over a century, is presently a dynamic field, with new entities being recognized and old "classic ataxias" being redefined in the light of new genetic evidence. [books.google.com]
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Cerebellar Ataxia
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]
Balegno S, Ceroni M, Corato M, et al: Antibodies to cerebellar nerve fibres in two patients with paraneoplastic cerebellar ataxia. Anticancer Res 2005; 25:3211–3214. [karger.com]
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]
Causes of cerebellar ataxia Symptoms of cerebellar ataxia Diagnosis cerebellar ataxia Treatment of cerebellar ataxia Cerebellar ataxia - treatment Cerebellar ataxia Ataxia is a symptom complex that includes specific violations of static and dynamic motor [medicalformat.com]
[…] of physical therapy for cerebellar ataxia. [intechopen.com]
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Dysarthria
Inherited periodic ataxia, dysarthria, nystagmus and vertigo. [patient.info]
Subsequently, the patient showed moderate improvement in ataxic dysarthria, slow saccades and hemispherical cerebellar signs with marginal improvement in truncal ataxia. [annalsofian.org]
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]
As a rule, accompanied by cerebellar ataxia nystagmus and dysarthria. It has a specific "cerebellar" character: it loses its smoothness, slows down and becomes discontinuous, stress goes to each syllable, making it reminiscent of the chant. [medicalformat.com]
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Nystagmus
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]
A case report and review of the literature. ( 6739288 ) Cavo M....Del Zotto E. 1984 29 Downbeat nystagmus with alcoholic cerebellar degeneration. ( 6497735 ) Zasorin N.L....Baloh R.W. 1984 30 Letter: Myasthenic syndrome and subacute cerebellar degeneration [malacards.org]
People with subacute cerebellar degeneration due to thiamine deficiency may also experience quick involuntary movements of the eyeball ( nystagmus ), double-vision, dizziness, and paralysis of the eye muscles. [2] In paraneoplastic cerebellar degeneration [rarediseases.info.nih.gov]
Inherited periodic ataxia, dysarthria, nystagmus and vertigo. [patient.info]
Slurred speech and vertical nystagmus gradually appeared. [journals.lww.com]
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Tremor
Tremor Cerebellar lesions can produce unilateral or bilateral intention tremor, or a truncal tremor. Nausea and vomiting Cerebellar lesions can produce nausea and/or vomiting. [patient.info]
Typically, cerebellar ataxia accompanied by chanting speech, intention tremor, postural tremor of the head and torso, muscular hypotonia. [medicalformat.com]
The remaining approximately 2/3 of sporadic ataxia patients develop a form of multiple system atrophy (MSA), characterized by ataxia associated with a combination of dementia, ophthalmoplegia, bulbar findings, tremor, bradykinesia or rigidity, autonomic [ataxia.uchicago.edu]
[…] 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 tremor [icd9data.com]
Prominent ataxic dysarthria, dysmetria of upper limbs more than lower limb, dysdiadochokinesia and intentional tremors were observed. No cranial neuropathy except for mild sensorineural hearing loss was identified. [annalsofian.org]
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
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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]
MRI shows cerebellar atrophy. Lifespan is normal. The age of onset is in the 4 th to 5 th decade of life. [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]
Prognosis
No correlation of the prognosis was seen with the type or stage of Hodgkin's lymphoma. [annalsofian.org]
The worst prognosis of ataxia are associated with cancer. [medicalformat.com]
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]
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]
An etiologic association between cancer and cerebellar degeneration was first clearly postulated by Lord Russell Brain in 1951 ( Brain et al 1951 ). [medlink.com]
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]
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]
Prediction and prevention Prognosis depends entirely on the cause of cerebellar ataxia. [medicalformat.com]
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]