Claudio M. de Gusmao

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A 25-year-old woman was admitted for vomiting, hypertension and seizures. Magnetic resonance imaging was compatible with posterior reversible encephalopathy syndrome and a transcranial Doppler/vasomotor reactivity study (TCD/VMR) demonstrated loss of vasomotor reactivity. The clinical recovery was concomitant to improvement in the TCD/VMR.
OBJECTIVE Spasmodic dysphonia is a focal dystonia of the larynx with heterogeneous manifestations and association with familial risk factors. There are scarce data to allow precise understanding of etiology and pathophysiology. Screening for dystonia-causing genetic mutations has the potential to allow accurate diagnosis, inform about genotype-phenotype(More)
BACKGROUND Functional neurological symptom disorders are frequently the basis for acute neurological consultation. In children, they are often precipitated by high-frequency everyday stressors. The extent to which a severe traumatic experience may also precipitate functional neurological abnormalities is unknown. METHODS For the 2-week period after the(More)
Benign hereditary chorea (BHC) was originally described in 1967, but it was not until 2002 that linkage analysis and positional cloning identified the causative gene, NKX2-1 (also known as TTF-1).(1,2) The range of manifestations spans from isolated chorea, pulmonary disease, or thyroid dysfunction, with one-third of patients having the full(More)
The child neurologist has a critical role in planning and coordinating the successful transition from the pediatric to adult health care system for youth with neurologic conditions. Leadership in appropriately planning a youth's transition and in care coordination among health care, educational, vocational, and community services providers may assist in(More)
BACKGROUND In children, functional neurological symptom disorders are frequently the basis for presentation for emergency care. Pediatric epidemiological and outcome data remain scarce. OBJECTIVE Assess diagnostic accuracy of trainee's first impression in our pediatric emergency room; describe manner of presentation, demographic data, socioeconomic(More)
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