Giuseppe Fariello

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Few studies have used Voxel-Based Morphometry (VBM) to examine brain structure in Anorexia Nervosa patients. The purpose of the present study was to investigate a sample of Anorexia Nervosa restrictive type (AN-r) adolescent patients in the early stages of the illness, using VBM in order to characterize morphometric gray matter (GM) changes. Participants(More)
The authors report the clinical and molecular findings in eight patients with hyperornithinemia, hyperammonemia, and homocitrullinuria (HHH) syndrome. The most consistent neurologic finding was spastic paraparesis, seen in five of the eight patients. However, all showed signs of pyramidal tract involvement. A broad spectrum of pathogenetic mutations(More)
Band heterotopia, or "double cortex," is a neuronal migration disorder that consists of a symmetrical subcortical neuronal band. The overlying cortex may be normal or macrogyric. We describe two severely mentally retarded girls, aged 14 and 18 years, who had band heterotopia and Lennox-Gastaut syndrome. Band heterotopia was evident in both hemispheres as a(More)
OBJECT Cobalamin C/D defect is an inborn error of cobalamin metabolism causing methylmalonic aciduria and homocystinuria. The early-onset form is characterized by severe neurological impairment. The aim of this study was to evaluate and monitor brain damage in early-onset cbl-C/D defect by conventional MRI and to assess the additional value of 1H-MRS. (More)
We report the case of a 4.6-year-old girl born pre-term with early bilateral occipital damage. It was revealed that the child had non-severely impaired basic visual abilities and ocular motility, a selective perceptual deficit of figure-ground segregation, impaired visual recognition and abnormal navigating through space. Even if the child's visual(More)
Renal vein thrombosis and adrenal hemorrhage can both be encountered in the neonatal period and they may occur at the same time. Inferior vena cava thrombosis can complicate some cases. These diseases can be easily diagnosed by means of ultrasound. The authors present 4 cases in which newborns were affected by renal vein thrombosis associated with adrenal(More)
OBJECTIVE To describe clinical and neuropathologic studies and linkage analysis on two sisters with a severe form of leukodystrophy. METHODS A detailed study was performed on the second sister. Genotyping markers for chromosome 3, including eight additional markers surrounding the vanishing white matter (VWM) locus, were used. RESULTS During the first(More)
Though the concept of caudal regression, suggested in 1961 by Duhamel, could explain the association between anorectal anomalies (ARA) and spinal dysraphism (SD), its real incidence may be underestimated and its clinical significance is debatable. From 1988 to 1993, 111 patients with ARA were treated at the authors' institution. Associated anomalies were(More)
Clinical, neuroradiological data and outcome of epilepsy of 32 patients with symptomatic infantile spasms caused by perinatal insults are reported. Neuroradiological investigations showed focal as well as diffuse cerebral lesions. Fifteen children had a porencephalic lesion, 12 had periventricular leukomalacia and five had diffuse bilateral cerebral(More)
BACKGROUND We describe a group of previously normal children who developed severe focal epilepsy after an acute/sub-acute illness resembling encephalitis. METHODS This is a retrospective study. An acute phase (encephalitis/encephalopathy period) and a chronic phase (chronic focal resistant epilepsy) were defined. RESULTS Eight patients were enrolled.(More)