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1.
Am J Case Rep ; 24: e940561, 2023 Aug 16.
Artigo em Inglês | MEDLINE | ID: mdl-37583127

RESUMO

BACKGROUND A first psychotic episode requires the exclusion of toxic-metabolic, inflammatory, infective, and neoplastic causes. Wilson disease is a rare, autosomal recessive disorder of copper metabolism and can present with neuropsychiatric symptoms secondary to copper accumulation in the brain. CASE REPORT We describe the case of a 48-year-old man with parkinsonism on a background of longstanding schizophrenia and psychotic depression in the setting of previously undiagnosed Wilson disease. The common history of neuropsychiatric disturbance and neuroleptic use complicated the assessment of parkinsonism. However, close attention to the temporal appearance of symptoms and signs differentiated his case from drug-induced parkinsonism, which commonly develops hours to weeks after commencement or uptitration of antipsychotic medication. The early features of sialorrhea and dysarthria were also atypical for idiopathic Parkinson disease. The diagnosis was confirmed by serum copper testing and supported by Kayser-Fleischer rings on bedside ophthalmological examination. Magnetic resonance imaging (MRI) of the brain demonstrated copper accumulation in the basal ganglia and pons, contributing to the characteristic neurological manifestations of an akinetic-rigid syndrome with dysarthria. CONCLUSIONS Serum copper testing is easily obtained and should be considered as part of the first-line investigations for new neuropsychiatric disturbances. Although rare, Wilson disease, if diagnosed early, is a potentially treatable and reversible cause of psychosis. With advanced disease, extrapyramidal findings on examination correlate with MRI brain changes, aiding the clinical assessment in differentiating the disease from drug-induced parkinsonism.


Assuntos
Degeneração Hepatolenticular , Transtornos Parkinsonianos , Transtornos Psicóticos , Masculino , Humanos , Pessoa de Meia-Idade , Degeneração Hepatolenticular/complicações , Degeneração Hepatolenticular/diagnóstico , Cobre/metabolismo , Disartria/etiologia , Transtornos Psicóticos/etiologia , Transtornos Parkinsonianos/etiologia , Transtornos Parkinsonianos/complicações
3.
BMJ Case Rep ; 15(1)2022 Jan 20.
Artigo em Inglês | MEDLINE | ID: mdl-35058286

RESUMO

Concurrent epistaxis, embolic stroke and a ruptured internal carotid artery are rare but life-threatening delayed complications of cured nasopharyngeal squamous cell carcinoma. A timely diagnosis and effective management can be problematic. We report a case that highlights the unique diagnostic features of this presentation and contemporary endovascular treatment options available.


Assuntos
Aneurisma , AVC Embólico , Neoplasias Nasofaríngeas , Artéria Carótida Interna/diagnóstico por imagem , Epistaxe/etiologia , Humanos
4.
Am J Med Genet A ; 167A(9): 2182-7, 2015 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-25929198

RESUMO

Growth deficiency, psychomotor delay, and facial dysmorphism was originally described in a male patient in 1989 by Wiedemann et al. and later in 2000 by Steiner et al. Wiedemann-Steiner syndrome (WSS) has since been described only a few times in the literature, with the phenotypic spectrum both expanding and becoming more delineated with each patient reported. We report on the clinical and molecular features of monozygotic twins with a de novo mutation in KMT2A. Single nucleotide polymorphism (SNP) microarray was done on both twins and whole-exome sequencing was done using both parents and one of the affected twins. SNP microarray confirmed that they were monozygotic twins. A de novo heterozygous variant (p. Arg1083*) in the KMT2A gene was identified through whole-exome sequencing, confirming the diagnosis of WSS. In this study, we have identified a de novo mutation in KMT2A associated with psychomotor developmental delay, facial dysmorphism, short stature, hypertrichosis cubiti, and small kidneys. This finding in monozygotic twins gives specificity to the WSS. The description of more cases of WSS is needed for further delineation of this condition. Small kidneys with normal function have not been described in this condition in the medical literature before.


Assuntos
Anormalidades Múltiplas/genética , Contratura/genética , Doenças em Gêmeos/genética , Transtornos do Crescimento/genética , Histona-Lisina N-Metiltransferase/genética , Deficiência Intelectual/genética , Microcefalia/genética , Proteína de Leucina Linfoide-Mieloide/genética , Polimorfismo de Nucleotídeo Único/genética , Gêmeos Monozigóticos/genética , Criança , Exoma/genética , Fácies , Feminino , Predisposição Genética para Doença/genética , Heterozigoto , Humanos , Síndrome
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