anna presicci

Abstract: Diagnosis and treatment of mood disorders in youth are still problematic because in this age the clinical presentation is atypical, and the diagnostic tools and the therapies are the same as that used for the adults. Mood disorders are categorically divided into unipolar disorders (major depressive disorder and dysthymic disorder) and bipolar disorder in Diagnostic and Statistical Manual of Mental Disorders (Fourth Edition, Text Revision), but mood symptoms are also comprised in the diagnostic criteria of the adjustment disorder (AD), which occur in many different psychiatric disorders, and may also be found in some physical conditions. The differential diagnosis is not much addressed in the midst of clinical investigation and so remains the major problem in the clinical practice.

Abstract: Although schizophrenia has been diagnosed in children, this group of disorders has received too little attention in the clinical and research literature. Preliminary data suggest that early onset schizophrenia (EOS) and very early onset schizophrenia (VEOS) tend to have a worse outcome than adult onset schizophrenia, and seem to be related to a greater familial vulnerability, due to genetic, psychosocial, and environmental factors. Recently, advanced neuroimaging techniques have revealed structural and functional brain abnormalities in some cerebral areas. This paper reports on a case diagnosed as VEOS, with premorbid year-long psychopathological history. The patient showed atypical proton magnetic resonance spectroscopy findings, and normal brain and spine computer tomography and brain magnetic resonance images.

Abstract: Paroxysmal dyskinesias are episodic movement disorders that can be inherited or are sporadic in nature. The pathophysiology underlying these disorders remains largely unknown but may involve disrupted ion homeostasis due to defects in cell-surface channels or nutrient transporters. In this study, we describe a family with paroxysmal exertion-induced dyskinesia (PED) over 3 generations. Their PED was accompanied by epilepsy, mild developmental delay, reduced CSF glucose levels, hemolytic anemia with echinocytosis, and altered erythrocyte ion concentrations. Using a candidate gene approach, we identified a causative deletion of 4 highly conserved amino acids (Q282_S285del) in the pore region of the glucose transporter 1 (GLUT1). Functional studies in Xenopus oocytes and human erythrocytes revealed that this mutation decreased glucose transport and caused a cation leak that alters intracellular concentrations of sodium, potassium, and calcium. We screened 4 additional families, in which PED is combined with epilepsy, developmental delay, or migraine, but not with hemolysis or echinocytosis, and identified 2 additional GLUT1 mutations (A275T, G314S) that decreased glucose transport but did not affect cation permeability. Combining these data with brain imaging studies, we propose that the dyskinesias result from an exertion-induced energy deficit that may cause episodic dysfunction of the basal ganglia, and that the hemolysis with echinocytosis may result from alterations in intracellular electrolytes caused by a cation leak through mutant GLUT1.

Abstract: Hypohidrosis, often associated with hyperthermia, has been reported, mostly in children, as a rare and reversible adverse effect of topiramate, an anticonvulsant drug with a broad spectrum of antiepileptic activity. The aim of our study is to detect a possible skin innervation involvement as the mechanism underlying hypohidrosis in children treated with topiramate.

Abstract: The authors describe a girl with Costello syndrome who showed cerebral palsy and neurosensorial deafness. Brain computer tomography and magnetic resonance findings were normal. Multivoxel proton magnetic resonance spectroscopy showed a lowering of the peak of choline with a reduced choline/creatine ratio at the level of the centrum semiovale. These findings might be due to a congenital dysmyelinating or hypomyelinating condition. A complete neuroimaging study can play a relevant role to better clarify the pathogenesis of brain involvement in Costello syndrome.

Abstract: The association between Achondroplasia and Neurofibromatosis type 1 has been described in only three patients. We report the clinical features and molecular characterization of a new patient with de novo ACH and NF1, providing for the first time a detailed clinical and molecular evaluation. Even if this association seems coincidental, some startling, intriguing correlations are discussed at the clinical and molecular level, between ACH, NF, and the existence of a common "mutator" genotype.

Abstract: This report presents clinical, laboratory, and neuroimaging findings in a 7-year-old male with Sydenham's chorea associated with attention-deficit hyperactivity disorder. Western immunoblotting revealed serum anti-human basal ganglia tissue antibodies. Magnetic resonance imaging results were normal. Proton magnetic resonance spectroscopic imaging disclosed increased choline/creatine ratio in basal ganglia, frontal, and parieto-occipital areas, and decreased N-acetyl aspartate/creatine ratio in both basal ganglia and frontal areas. Moreover magnetic resonance spectroscopy revealed a peak between 3.6-4.2 ppm of unclear significance. The findings of this study are compared with the previous magnetic resonance spectroscopic studies reported on Sydenham's chorea and attention-deficit hyperactivity disorder. Magnetic spectroscopic imaging suggests an autoimmune basal ganglia damage in the pathogenesis of Sydenham's chorea and fronto-striatal impairment in attention-deficit hyperactivity disorder. In the present case, the previous history of an attention-deficit hyperactivity disorder suggests that this neurobehavioral disorder could be a risk factor for Sydenham's chorea in children with rheumatic fever.

Abstract: 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 dysfunction is common. This is largely due to the lack of well-organized epidemiologic studies on the prevalence of nonmotor disturbances in cerebellar disease. The association between congenital cerebellar disease and epilepsy has rarely been described. We report clinical, neurophysiologic, neuroimaging, and neuropsychologic features in a group of 14 patients with congenital nonprogressive cerebellar ataxia associated with cerebellar hypoplasia, 5 of whom have familial disease, aiming to further a better knowledge of the prevalence of cognitive and/or emotional impairment and epilepsy. The results confirm that cerebellar hypoplasia predisposes individuals to psychomotor delay (71.4%) and cognitive impairment (85.7%). Moreover, the tendency toward abnormal electroencephalographic (EEG) findings (78.5%), associated in a minor percentage of cases with epilepsy (28.5%), is also evident in our study.

Abstract: 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 presence of contrast enhancement or mass effect in them usually strongly suggests an increased risk of proliferative changes. To date, few studies have focused on evoked potentials in patients with neurofibromatosis 1, and the reported abnormalities did not have significant clinical correlations. We describe the clinical and instrumental (MRI and evoked potentials) follow-up of three patients with neurofibromatosis 1. MRI and evoked potentials showed subclinical involvement of the central nervous system. Some MRI T(2)-weighted hyperintensities showed enhancement and mass effect of uncertain significance. During follow-up, the MRI lesions spontaneously decreased in size or enhancement, allowing us to exclude the hypothesis of proliferative lesions; in the same way, some asymptomatic evoked potential abnormalities disappeared. These findings suggest that both MRI and evoked potentials could be useful in the detection and monitoring of cerebral complications of neurofibromatosis 1.

Abstract: 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 palsy with choreoathetotic movements, and brain malformation. Our report might help better delineate the phenotype and natural history of the syndrome.

Abstract: 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 imaging (MRI) features. The patient showed faciopharyngoglossomasticatory diplegia, severe dysarthria, ataxia, spastic quadriparesis and severe mental retardation. Brain MRI evidenced bilateral perisylvian cortical dysplasia. Since early life she suffered from complex febrile seizures and epilepsy consisting of complex partial attacks with affective manifestations associated with centro-temporal EEG abnormalities. During 18 years of follow-up she was treated with phenobarbital, carbamazepine, lamotrigine, gabapentin but did not show any significant clinical improvement. Subsequently, monotherapy with phenytoin (PHT) was followed by a significant clinical improvement. At age 17, because of adverse effects, PHT was gradually substituted by topiramate (TPM). Full control of seizures was obtained at the age of 17 years with TPM. EEG abnormalities throughout the years have been reduced according to the clinical course. These findings emphasised the importance of long-term follow-up, suggesting that the prognosis for epilepsy may not be predicted based on the early response to treatment or on the presence of structural encephalic abnormalities, as reported in the literature.

Abstract: 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 idiopathic long-lasting paroxysmal exertion-induced dyskinesia and the sporadic cases by idiopathic short-lasting paroxysmal kinesigenic dyskinesia. Familial cases also suffer from epilepsy, mainly of generalized type, with benign outcome; one sporadic case is affected by migraine. Results presented in this neurophysiologic study include electromyography, somatosensory evoked potentials by median nerve stimulation, somatosensory evoked potentials by posterior tibial nerve stimulation, motor evoked potentials by magnetic transcranial cortical stimulation, visual evoked potentials, brainstem auditory evoked potentials, blink reflex, reflex H, and electroencephalography. The clinical and neurophysiologic findings presented here suggest a condition of hyperexcitability at the muscular and brain level, perhaps as a result of an ion channel disorder, which is in agreement with reports in the literature.

Abstract: Nonprogressive congenital ataxia is a complex group of disorders caused by a variety of etiologic factors, both environmental and genetic. Hereditary forms represent a substantial part of congenital ataxias, which are difficult to classify because of their phenotypic and genetic polymorphism. Despite the advances in molecular genetics, for most nonprogressive congenital ataxia the etiology is still unknown. This report describes three sons of nonconsanguineous healthy parents, who manifested a syndrome characterized by nonprogressive ataxia, mental retardation, pyramidal signs, ocular and ocular motor anomalies, associated with severe hypoplasia of the cerebellar vermis and hemispheres on neuroimaging. All the patients have presented psychomotor developmental delay. As differential diagnosis, a comparison is made between the clinical features of these patients and the previously reported cases of nonprogressive congenital ataxia. This report represents a further example of the phenotypic and genetic heterogeneity of the syndromes with congenital ataxia.

Abstract: 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 precipitating factors. All the subjects, moreover, showed epileptic seizures during childhood and adolescence. In addition, in all cases a condition of mild mental retardation was also documented, associated in some cases, with irritable and impulsive behaviour. Clinical, neurophysiological, neuroimaging and neuropsychological findings were reported. The homogeneous recurrence of this particular clinical picture in members of three generations emphasised a common genetic basis. In our patients, PED is transmitted as an autosomal dominant trait, with age-dependent penetrance, without evidence of genetic anticipation. The neurophysiological findings suggest a condition of hyperexcitability in the muscular and brain membrane, due to a ion channels disorder.

Abstract: 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 potentials by median nerve stimulation (MN-SEPs), somatosensory evoked potentials by posterior tibial nerve stimulation (PTN-SEPs), brainstem auditory evoked potentials (BAEPs), visual evoked potentials (VEPs), motor evoked potentials (MEPs) by magnetic transcranial cortical stimulation (TCS) and electromyography (EMG). The neurophysiological findings suggest a hyperexcitability at the muscular and brain membrane levels, probably due to an ion channel disorder.