Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0013421 (dystonia)
 8,418 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Five cases are presented describing the clinical features for which they were referred and admitted to a rehabilitation unit and later identified as having been misdiagnosed as having a conversion disorder. The diagnoses were sarcoma-induced osteomalacia, cerebellar medulloblastoma, Huntington's chorea, transverse myelitis, and lower extremity dystonia. A perceived history of psychological difficulties, an unusual neurologic presentation, and normal initial diagnostic testing in a female patient were associated with a misdiagnosis of conversion disorders; unfortunately, these factors also characterize actual conversion disorders.
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PMID:Misdiagnosis of conversion disorders. 1198 21

Corticobasal degeneration (CBD) is a progressive neurodegenerative disorder described by Rebeiz et al. It is characterized by progressive, asymmetric, cortical (eg, apraxia, alien limb phenomena, cortical sensory loss, and myoclonus), and extrapyramidal (eg, rigidity, bradykinesia, dystonia, and tremor) dysfunction. However, CBD has many clinical phenotypes, and the features used for predicting CBD have low sensitivity. Therefore, the term corticobasal syndrome (CBS) has been used to characterize such clinical features, whereas the term CBD is used to refer to the pathological disorder. The most frequent causes of CBS are CBD, followed by Alzheimer's disease, progressive supranuclear palsy, frontotemporal lobar degeneration with TDP-43 pathology (sporadic and familial), Pick's disease, Lewy body disease, frontotemporal lobar degeneration with fused in sarcoma-positive inclusions, Creutzfeldt-Jakob disease, and mutations in the microtubule-associated protein tau (MAPT) and progranulin (GRN) genes. The topography of neurodegeneration dictates the clinical syndrome not according to the underlying pathology. Researchers have attempted to develop fluid biomarkers or imaging analysis for diagnosing CBS. The aim of this review was to highlight recent advances in CBS diagnosis and discuss future directions.
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PMID:[Corticobasal syndrome: recent advances and future directions]. 2248 19

BACKGROUND Ischemic fasciitis is a rare condition that occurs in debilitated and immobilized individuals, usually overlying bony protuberances. Because the histology shows a pseudosarcomatous proliferation of atypical fibroblasts, and because the lesion can increase in size, ischemic fasciitis can mimic sarcoma. Beta-propeller protein-associated neurodegeneration (BPAN) arises in infancy and is due to mutations in the WDR45 gene on the X chromosome. BPAN results in progressive symptoms of dystonia, Parkinsonism, and dementia once the individual reaches adolescence or early adulthood, and is usually fatal before old age. A case of ischemic fasciitis of the buttock is presented in an adult woman with BPAN. CASE REPORT A 40-year-old woman with BPAN and symptoms of mental and physical deterioration, had become increasingly wheelchair-dependent and presented with a mass in her buttock that had been increasing in size for two months. Computed tomography (CT) imaging showed an ill-defined subcutaneous lesion between the dermis and the gluteal muscle, which was suspicious for malignancy. A needle biopsy of the mass was performed. The histology examination showed benign ischemic fasciitis. A follow-up CT scan performed 3.5 months after identification of the lesion showed that it had decreased in size. CONCLUSIONS Ischemic fasciitis is a rare condition that is associated with immobility. Because BPAN is a neurodegenerative disease that can cause immobility, a history of BPAN in patients of all ages may be associated with an increased risk of developing ischemic fasciitis. The correct diagnosis is essential, as ischemic fasciitis, although benign, can mimic malignancy.
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PMID:Ischemic Fasciitis of the Left Buttock in a 40-Year-Old Woman with Beta-Propeller Protein-Associated Neurodegeneration (BPAN). 3034 Dec 75