Wilson Disease: A Case Report of Psychosis Preceding Parkinsonism.

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.

Internal carotid artery blister aneurysm rupture: a unifying diagnosis for massive epistaxis and unilateral embolic strokes.

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.

Current perspectives on neuroimaging techniques used to identify stroke mimics in clinical practice.

INTRODUCTION: Urgent clinical assessment and brain imaging are essential for differentiating stroke mimics from stroke and to avoid unnecessary initiation of reperfusion and other therapies in stroke mimic patients. AREAS COVERED: In this article, the authors will review acute stroke imaging and then the imaging patterns of the most common stroke mimics. The authors have focused our review on brain CT scan, and more specifically CT perfusion, as this is the most commonly available and emerging tool in emergency settings. The authors also provide information on acute brain MRI and MR perfusion. EXPERT OPINION: Imaging can contribute to the detection and diagnosis of acute stroke mimics. Knowledge of imaging findings in different stroke mimics can help distinguish these from patients with stroke who require timely reperfusion therapy. CT and MRI perfusion and diffusion-weighted imaging (DWI) MRI are useful imaging modalities for the assessment of acute stroke patients as they provide more accurate information than plain CT scan. Some of these modalities should be available in the emergency setting. The authors recommended CT perfusion as a useful tool for stroke management and differentiation with stroke mimics.

Black blood imaging of intracranial vessel walls.

Traditional vascular imaging focuses on non-invasive cross-sectional imaging to assess luminal morphology; however, the vessel wall itself may be specifically involved in many diseases. Newer pulse sequences, and particularly black blood MRI of intracranial vessels, have brought a paradigm shift in understanding the pathophysiology of many vasculopathies. Black blood MRI of intracranial vessel walls can help in a range of pathologies with differing pathophysiology, including intracranial atherosclerosis, aneurysms, vasculitis and vasculopathy, moyamoya disease, dissection and vertebrobasilar hypoplasia. This review highlights how vessel wall imaging can contribute to the clinical diagnosis and management of patients with intracranial vascular pathology.

A de novo Mutation in KMT2A (MLL) in monozygotic twins with Wiedemann-Steiner syndrome.

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.