scholarly journals Paraneoplastic Cerebellar Degeneration Secondary to BRAF Mutant Melanoma Metastasis from an Occult Primary Cancer

2020 ◽  
Vol 13 (2) ◽  
pp. 633-642
Author(s):  
Omar Jiménez-Zarazúa ◽  
Lourdes Noemí Vélez-Ramírez ◽  
María Alcocer-León ◽  
Diego Armando Hernández-Domínguez ◽  
Juana Elizabeth Tadeo-González ◽  
...  
Keyword(s):  
Malignant Melanoma ◽  
Movement Disorders ◽  
Mapk Pathway ◽  
Neuropsychiatric Symptoms ◽  
Cerebellar Degeneration ◽  
Paraneoplastic Cerebellar Degeneration ◽  
Unknown Primary ◽  
Melanoma Metastasis ◽  
Primary Cancer ◽  
The Right

Melanoma metastasis from an unknown primary cancer has an incidence of 3.2% among melanoma patients. Furthermore, paraneoplastic neurological syndromes (PNS) are rare, occurring in 1–3% of patients with malignancies. Paraneoplastic cerebellar degeneration (PCD) is one of the classic PNS and is characterized by acute or subacute onset of ataxia and/or presence of onconeural antibodies. A 61-year-old male with ataxia, vertigo, and headache later developed dysarthria, multidirectional nystagmus, hyperactive delirium, auditory hallucinations, psychomotor agitation, and myoclonus. Toxicological, metabolic, infectious, and autoimmune etiologies were assessed and reported negative. An osteolytic lesion was observed in the right iliac crest via computed tomography (CT). A positron emission tomography-CT reported increased fluorodeoxyglucose uptake of a right iliac and right inguinal ganglion. After biopsy of the right inguinal ganglion, a BRAF mutation-positive melanoma metastasis from an occult primary cancer was diagnosed. Dermatologic, ophthalmologic, and endoscopic gastrointestinal assessment did not reveal a primary malignant melanoma. The patient’s movement disorders and neuropsychiatric symptoms improved with quetiapine, prednisone, azathioprine, and cyclophosphamide. Oncological management was conducted with MAPK pathway inhibitors (i.e., dabrafenib and trametinib). Movement disorders associated with neuropsychiatric symptoms are complex to diagnose. PNS are rare and often associated with antibodies against neural antigens expressed by the tumor. The case presented above describes a patient with a BRAF-positive malignant melanoma metastasis from an occult primary associated with PCD – to the best of our knowledge, the first reported in the literature.

scholarly journals Anti-Ma-associated paraneoplastic cerebellar degeneration in a patient with nodular lymphocyte-predominant Hodgkin lymphoma: a case report

BMC Neurology ◽  
2020 ◽  
Vol 20 (1) ◽  
Author(s):  
Ryoma Inui ◽  
Kenki Saito ◽  
Yoshimitsu Shimomura ◽  
Daisuke Yamashita ◽  
Michi Kawamoto ◽  
...  
Keyword(s):  
Lymph Node ◽  
Hodgkin Lymphoma ◽  
Paraneoplastic Syndrome ◽  
Cerebellar Degeneration ◽  
Paraneoplastic Cerebellar Degeneration ◽  
Downbeat Nystagmus ◽  
Primary Position ◽  
First Case ◽  
History Of ◽  
The Right

Abstract Background Paraneoplastic cerebellar degeneration (PCD) is a devastating paraneoplastic syndrome that occasionally occurs in patients with Hodgkin lymphoma (HL). Anti-Ma2 is a well-characterized onconeuronal antibody and one of the causes of PCD. There has been only one previous report of anti-Ma2-associated paraneoplastic syndrome as a complication of HL. Here we present a rare case of anti-Ma2-associated PCD in a patient with nodular lymphocyte-predominant HL (NLPHL). Case presentation A 77-year-old man with a 3-month history of gait instability and a 2-month history of oscillopsia was referred to our hospital for further investigation. On examination, his cognition was normal. He had nystagmus in all directions of gaze; specifically, he had horizontal and rotatory nystagmus in the primary position, downbeat nystagmus after right, left, and up gaze, and upbeat nystagmus after down gaze. Although his limb ataxia was mild, his trunk ataxia was so pronounced that he was unable to walk without support. We strongly suspected paraneoplastic syndrome and tested for neuronal autoantibodies. The anti-Ma2 antibody was strongly positive in the blood and cerebrospinal fluid but other antineuronal autoantibodies were negative. Computed tomography showed an enlarged lymph node in the right axilla but no masses. Biopsy confirmed a diagnosis of NLPHL. The NLPHL cells stained with anti-Ma-2 antibody in the cytoplasm, suggesting these abnormal cells contained protein that was cross-reactive with Ma-2. Conclusions To the best of our knowledge, this is the first case of anti-Ma2-associated PCD in a patient with NLPHL that was confirmed using immunostaining of the lymph node tissue with anti-Ma2 antibody. Our case confirms an association between anti-Ma2-associated PCD and NLPHL.

scholarly journals Acute-onset paraneoplastic cerebellar degeneration secondary to neuroendocrine carcinoma with atypical prognosis: a case report

2021 ◽  
Vol 49 (2) ◽  
pp. 030006052199223
Author(s):  
Kunyu Wang ◽  
Yan Miao ◽  
Haoyong Ning ◽  
Feng Guo ◽  
Yang Bian ◽  
...  
Keyword(s):  
Neuroendocrine Carcinoma ◽  
Acute Onset ◽  
Cerebellar Degeneration ◽  
Paraneoplastic Cerebellar Degeneration ◽  
Biological Behavior ◽  
Unknown Primary ◽  
High Grade ◽  
Node Dissection ◽  
Primary Origin ◽  
Unknown Primary Origin

Paraneoplastic cerebellar degeneration (PCD) is a neurological syndrome that is likely caused by tumor-induced autoimmunity against the cerebellum. Neuroendocrine carcinoma (NEC) is a type of neoplasm with high-grade malignant histology and biological behavior. The prognosis for both PCD and NEC is typically poor. We report a case of PCD secondary to metastatic NEC in the lymph nodes, with an unknown primary origin. The case presented acute cerebellar manifestations with typical neuroimaging findings, but with atypical prognosis after lymph node dissection. Neurological symptoms can provide clues to potential tumors, and early antitumor treatment may have contributed to the positive prognosis of PCD secondary to NEC in the present case.

scholarly journals Paraneoplastic opsoclonus-myoclonus syndrome secondary to melanoma metastasis form occult primary cancer

2019 ◽  
Vol 11 (1) ◽  
pp. 66-79
Author(s):  
Jaime D. Mondragón ◽  
Omar Jiménez-Zarazúa ◽  
Lourdes N. Vélez-Ramírez ◽  
María Andrea Martínez-Rivera ◽  
Samnir Enríquez-Maciel ◽  
...  
Keyword(s):  
Brain Magnetic Resonance Imaging ◽  
Somatoform Disorder ◽  
Unknown Primary ◽  
Melanoma Metastasis ◽  
Primary Cancer ◽  
Fluid Analysis ◽  
Neoplastic Lesion ◽  
Medical Evaluation ◽  
S 100 ◽  
Opsoclonus Myoclonus Syndrome

Introduction: Opsoclonus-myoclonus syndrome (OMS) is an inflammatory neurological disorder, often requiring a prompt medical evaluation. Among the diverse etiologies associated with OMS are autoimmune, infectious, paraneoplastic, and systemic diseases, and drug intoxication. Clinical Summary: The case of a 36-year-old female with a disabling holocranial headache, sudden loss of consciousness, aggressive behavior, vertigo, and a personal history of somatoform disorder and major depression is presented here. After hospital admission, the patient developed sudden stereotyped movements in all four extremities and oculogyric crises compatible with OMS. Cerebrospinal fluid analysis, viral and autoimmune assays, as well as blood, urine, and bronchial secretion cultures, drug metabolite urinalysis, and tumor markers were all negative. Furthermore, brain computed tomography (CT) and brain magnetic resonance imaging, along with thoraco-abdominopelvic CT and electroencephalography, were also all negative. The patient suffered type one respiratory insufficiency after 72 h of hospitalization, requiring an endotracheal tube. After 13 days the patient suffered cardiac arrest. Necropsy was performed reporting lymph nodes with a poorly differentiated malignant neoplastic lesion, HMB-45, melan-A, vimentin, and S-100 positive, compatible with melanoma metastasis from an occult primary cancer. Discussion: While the incidence of melanoma of unknown primary is between 2.6 and 3.2%, with a median overall survival ranging between 24 and 127 months, when melanoma patients develop OMS their survival is markedly decreased. Although only 5 cases of paraneoplastic OMS secondary to melanoma have been reported in the literature, all had a poor prognosis, dying within 8 months of OMS onset.

scholarly journals EEG Contribution to the Diagnosis of Antibody-Negative Autoimmune Encephalitis: A Case Report

2021 ◽  
pp. 739-743
Author(s):  
Mayusa Mito ◽  
Kotaro Sakurai ◽  
Yuichi Nakamura ◽  
Azusa Nagai ◽  
Sho Seo ◽  
...  
Keyword(s):  
Movement Disorders ◽  
Clinical Symptoms ◽  
Psychiatric Symptoms ◽  
Neuropsychiatric Symptoms ◽  
Autoimmune Encephalitis ◽  
Brain Diseases ◽  
Test Results ◽  
Temporal Area ◽  
Antiepileptic Medications ◽  
The Right

Autoimmune encephalitis (AE) is a group of inflammatory brain diseases that are characterized by prominent neuropsychiatric symptoms. Early therapeutic intervention is important for AE. Therefore, without waiting for autoantibody test results, clinicians must consider the possibility of AE based solely on clinical symptoms and conventional test results. The case described herein is of antibody-negative encephalitis with abnormalities shown only by EEG, which contributed to the diagnosis and treatment. The patient, a 20-year-old woman, showed autonomic seizures in addition to movement disorders, psychiatric symptoms, and cognitive dysfunction, which worsened subacutely. Her seizures and movement disorders were not responsive to antiepileptic medications. Results obtained from MRI and cerebrospinal fluid (CSF) were normal; EEG findings showed repeated spikes in the right temporal area, with changes over time. Based on the clinical course and EEG, along with administered immunotherapy, which resolved seizures, movement disorders, and psychiatric symptoms, we suspected AE. For diagnosis of AE and for evaluating treatment responsiveness, EEG was useful. Results indicate that EEG can assist clinicians even with AE cases for which MRI and CSF findings are normal.

scholarly journals Undifferentiated Nasopharyngeal Carcinoma Presenting with Shoulder Mass

2020 ◽  
Vol 2020 ◽  
pp. 1-3
Author(s):  
Cosphiadi Irawan ◽  
Rahmat Cahyanur ◽  
Reyhan Eddy Yunus
Keyword(s):  
Palliative Chemotherapy ◽  
Nasopharyngeal Cancer ◽  
Bone Tumour ◽  
Undifferentiated Carcinoma ◽  
Neck Mass ◽  
Definitive Treatment ◽  
Unknown Primary ◽  
Common Cancer ◽  
Stage Ivb ◽  
The Right

Nasopharyngeal cancer (NPC) is the most common cancer among head and neck cancer that usually presented with unilateral neck mass. Unusual symptoms of NPC can lead us to diagnosis misleading and delayed definitive treatment. We present a case of NPC with bone metastasis in the shoulder. A 33-year-old female presented with right shoulder mass caused by undifferentiated carcinoma of unknown primary, based on biopsy of shoulder mass. After four months, she was complaining painless neck swelling, headache, and hearing impairment in the left ear. Bone MRI showed malignant bone tumour in the right humerus. Neck CT scan showed mass in the nasopharyngeal and bilateral lymphadenopathy. Biopsy in nasopharyngeal revealed undifferentiated carcinoma of nasopharyngeal cancer (WHO-3 type A). The patient was diagnosed as NPC stage IVb and thus was treated with palliative chemotherapy. After three cycles of cisplatin docetaxel, patient condition improved.

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