Tommaso Perniola

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Diagnosis of neurofibromatosis 1 is based on clinical criteria. In a large number of children with neurofibromatosis 1, magnetic resonance imaging (MRI) reveals high-signal T(2)-weighted intensities in different brain regions, defined as unidentified bright objects. These lesions are asymptomatic; most of them regress spontaneously with age, but the(More)
A 4-year follow-up study of 2 brothers affected by Schwartz-Jampel syndrome is reported. The children, aged 16 and 7 years, respectively, showed the clinical and electromyographical signs of the disorder. Further investigation showed some typical facial features of the syndrome, percussion myotonia and abnormal EMG pattern characterized by continuous muscle(More)
Paroxysmal dyskinesias are a rare heterogeneous group of neurologic disorders, characterized by transient sudden choreoathetoid or dystonic attacks without loss of consciousness. This study reports a family with six affected members in three generations, and two sporadic cases of paroxysmal dyskinesia. Familial cases of paroxysmal dyskinesia are affected by(More)
A 6-year old girl developed acquired aphasia with epilepsy and a paroxysmal EEG (Landau-Kleffner syndrome). Isoelectric CSF focusing showed oligoclonal IgG bands. Small lesions were visualized in periventricular left frontal white matter and right parietal lobe centrum semiovale with magnetic resonance imaging (MRI). After a week of ACTH therapy, the EEG(More)
The Authors review the literature on the occurrence of multiple sclerosis in children and add 14 personal cases below the age of 15.5 years, the youngest being 6.4 years old. Modality of onset, clinical course, clinical classification according to the criteria proposed by McDonald and Halliday, paraclinical evidence of lesions and disability grade at the(More)
Congenital nonprogressive cerebellar ataxia includes a complex group of disorders with heterogeneous phenotypic and etiopathogenetic characteristics. Despite recent advances in the understanding of the role of the cerebellum in cognition and behavior, the opinion that the clinical presentation of congenital cerebellar diseases is principally linked to motor(More)
We report a family with 6 members affected by a long-lasting paroxysmal exertion-induced dyskinesia. Fasting and stress were precipitating factors. All the patients of this family had also epileptic seizures mainly of generalised type with a favourable outcome. All patients were submitted to a neurophysiological study which included somatosensory evoked(More)
Congenital bilateral perisylvian syndrome (CBPS) is a rare neurological disorder characterised by pseudobulbar palsy, cognitive deficits and epilepsy associated with bilateral perisylvian cortical dysplasia on neuroimaging studies. We report a long-term follow-up of a 18-years girl diagnosed with CBPS according to the typical clinical and magnetic resonance(More)
Only few sporadic and familial cases of paroxysmal exercise-induced dyskinesia (PED) have been described in literature. PED associated with familial epilepsy has been rarely reported. We describe a family in which six members in different generations were affected by a long-lasting PED, with childhood onset in five cases. Fasting and stress were also(More)
Megalocornea-mental retardation syndrome, otherwise known as Neuhauser syndrome, is a rare autosomal recessive disorder. Only 36 cases have been reported in the literature. We describe the clinical and instrumental follow-up, lasting 5 years, of a case showing the typical features of the syndrome, associated with transient hypothyroidism, epilepsy, cerebral(More)