Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0018681 (headache)
 56,091 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Paraneoplastic cerebellar degeneration (PCD) is the most frequently seen paraneoplastic syndrome affecting the brain. PCD is most commonly associated with cancers of the ovary, breast, and lung. The anti-Purkinje cell antibodies (anti-Yo) that specifically damage the Purkinje cells of the cerebellum are found in the patient's serum and cerebrospinal fluid. The typical presentation of PCD includes limb and truncal ataxia, often along with dysarthria. This report describes the case of a 47-year-old woman without significant medical history who developed new onset of unsteady gait, headache, and vertigo. The imaging studies suggested rhombencephalitis. The patient initially responded to corticosteroid treatment. Unfortunately, her gait ataxia worsened and she developed dysarthria, neither of which responded to increasing dosages of corticosteroids. Extensive imaging studies showed no evidence of tumor, but the patient was found to have positive anti-Yo antibodies and elevated cancer antigen 125 (CA-125). Pathology results from exploratory laparotomy revealed stage III C adenocarcinoma of the ovary. This case demonstrates that PCD may be the presenting symptom of an occult malignancy. The pathogenesis, diagnosis, and treatment of PCD, and its rehabilitation implications, are reviewed.
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PMID:Paraneoplastic cerebellar degeneration as the first evidence of cancer: a case report. 1085 34

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.
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PMID:Paraneoplastic Cerebellar Degeneration Secondary to BRAF Mutant Melanoma Metastasis from an Occult Primary Cancer. 3277 48