V H Marussi

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Mutations of the PROP-1 gene are the most frequent genetic defect in patients with combined pituitary hormone insufficiency. We present the cases of 2 siblings with PROP-1 mutations whom we observed longitudinally. Their initial pituitary MR imaging examinations showed identical findings: an enlarged adenohypophysis, with striking hypointensity on(More)
Discovery of genetic abnormalities associated with neurodegeneration with brain iron accumulation (NBIA) has led to use of a genetic-based NBIA classification schema. Most NBIA subtypes demonstrate characteristic imaging abnormalities. While clinical diagnosis of NBIA is difficult, analysis of both clinical findings and characteristic imaging abnormalities(More)
A 40-year-old woman presented to the emergency department with acute decreased level of consciousness, associated with respiratory failure. She has complained of headache, fever, myalgia and dyspnea for the last seven days. Neurological examination disclosed decreased level of consciousness. Brain CT scan disclosed multiple intracerebral acute hemorrhage(More)
Radiol Bras. 2016 Nov/Dez;49(6):406–413 412 http://dx.doi.org/10.1590/0100-3984.2015.0139 the lesions by the paramagnetic contrast agent. Examination of the cerebrospinal fluid showed that there was no infection with Cryptococcus or any other agents, indicating an effective response to the treatment. The combination of clinical and radiological worsening,(More)
We describe 03 patients with motor neuron disease: one with primary lateral sclerosis (PLS) (Figure 1) and two with amyotrophic lateral sclerosis (ALS) (Figures 2 and 3) whose brain MRI disclosed hypointense signal in precentral gyri gray matter in susceptibility weighted imaging (SWI) in High-Field MRI (3T). MRI techniques have been used with variable(More)
A 59 year old woman presented with an atypical parkinsonian syndrome with clinical and neuroimaging features of corticobasal syndrome (CBS) and progressive supranuclear palsy (PSP). CBS manifestations were slurred/scanning speech and asymmetrical right signs: levitation phenomena, pseudo-hemiparetic gait and hypertonia/hyperreflexia. PSP signs were staring(More)