Carla Uggetti

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BACKGROUND Acute disseminated encephalomyelitis (ADEM) refers to a monophasic acute multifocal inflammatory CNS disease. However, both relapsing and site-restricted variants, possibly associated with peripheral nervous system (PNS) involvement, are also observed, and a systematic classification is lacking. OBJECTIVE To describe a cohort of postinfectious(More)
BACKGROUND Congenital muscular dystrophies (CMD) with reduced glycosylation of alpha-dystroglycan (alpha-DG) are a heterogeneous group of conditions associated with mutations in six genes encoding proven or putative glycosyltransferases. OBJECTIVES The aim of the study was to establish the prevalence of mutations in the six genes in the Italian population(More)
AIM Cognitive visual dysfunctions (CVDs) reflect an impairment of the capacity to process visual information. The question of whether CVDs might be classifiable according to the nature and distribution of the underlying brain damage is an intriguing one in child neuropsychology. METHOD We studied 22 children born preterm (12 males, 10 females; mean age at(More)
The aim of this study was to propose a quantitative MR protocol with very short acquisition time and good reliability in volume construction, for the evaluation of body composition in patients affected by Duchenne muscular dystrophy (DMD). This MR protocol was compared with common anthropometric evaluations of the same patients. Nine boys affected by DMD,(More)
We set out to define visuo-perceptual impairment related to periventricular leukomalacia (PVL) using the Developmental Test of Visual Perception (DTVP). Correlations were sought between visual-perceptual deficits and DTVP profile and neuroradiological and neurophthalmological findings. The DTVP was administered to 20 children (m/f: 10/10), aged between 5(More)
Mutations in POMT1 and POMT2 genes were originally identified in Walker-Warburg syndrome (WWS) and subsequently reported in patients with milder phenotypes characterised by mental retardation with or without brain abnormalities and without ocular malformations. As part of a multicentric Italian study we screened the POMT1 and POMT2 genes in 61 congenital(More)
We report the spectrum of muscle involvement on magnetic resonance imaging in 11 patients with a molecularly confirmed diagnosis of adult-onset acid maltase deficiency at different clinical stages. Muscle magnetic resonance imaging showed a selective progressive pattern of muscle involvement with a constant involvement of the adductor magnus and(More)
Parry-Romberg syndrome or progressive facial hemiatrophy (PFH) is a rare disease of unknown etiology characterized by atrophy of the skin and subcutaneous tissue on one side of the face. The authors present the case of a 32-year-old woman with PFH who had migraine and an intracranial aneurysm. The findings support the hypothesis that the disease could be(More)
OBJECTIVE To investigate the relationship between resting energy expenditure (REE) and body composition in Duchenne Muscular Dystrophy (DMD). DESIGN An observational study. SETTING University Research Centre. SUBJECTS Nine Duchenne children (age range 6-12 y), mean relative weight 128%, agreed to undergo the investigation and all of them completed the(More)
Different pathologic processes (especially demyelination, hypomyelination, and combinations of these) may underlie leukoencephalopathies. Leukoencephalopathies pose a particular diagnostic problem when they occur in children. To seek associated, non-neurologic signs is of fundamental importance in hypomyelinating leukoencephalopathies, because these can(More)