Publications by authors named "Guido Morgese"

29 Publications

  • Page 1 of 1

Photoparoxysmal responses in children with chromosomal aberrations.

Epilepsy Res 2006 Dec 20;72(2-3):164-70. Epub 2006 Sep 20.

Department of Pediatrics, Obstetrics, and Reproductive Medicine, University of Siena, Viale M. Bracci, 53100 Siena, Italy.

Electroencephalographic (EEG) anomalies and epilepsy are commonly observed in the clinical picture of patients with chromosomal aberrations. However, no investigations have been performed on the relationship between chromosomal disorders and photoparoxysmal response (PPR). In this study, we evaluate the characteristics of PPRs elicited with intermittent photic stimulation during a routine electroencephalogram in children affected by chromosomal anomalies and correlated this with the clinical profile of the child. A review of the literature has also been performed. PPRs occurred in 14% (4/28) of patients. PPRs were brief (
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http://dx.doi.org/10.1016/j.eplepsyres.2006.07.016DOI Listing
December 2006

Efficacy and safety of topiramate in refractory epilepsy of childhood: long-term follow-up study.

J Child Neurol 2005 Nov;20(11):893-7

Pediatrics Department, University of Siena, Siena, Italy.

This study aimed to evaluate the long-term efficacy and safety of topiramate in treating children with drug-resistant epilepsy. A multicentric, retrospective, open-label, add-on study was undertaken of 277 children (mean age 8.4 years; range 12 months to 16 years) affected by drug-resistant epilepsy. The efficacy was rated according to the seizure types and epilepsy syndrome. After a mean period of 27.5 months of treatment (range 24-61 months), 11 patients (4%) were seizure free and 56 (20%) had more than 50% reduction in seizure frequency. The efficacy of topiramate treatment was noted in localization-related epilepsy and in generalized epilepsy. In addition, in a group of 114 patients, we compared the initial efficacy (evaluated after a mean of 9 months of follow-up) and the retention at a mean of 30 months of topiramate with regard to loss of efficacy (defined as the return to the baseline seizure frequency). Fifty-five (48%) of 114 patients were initial responders. The retention at a mean of 30 months was 23 of 114 patients (20%), 4 of whom (3.5%) were still seizure free. A loss of efficacy occurred in 32 of the 55 initial responders (58%). It was prominent in patients with generalized epilepsy, such as symptomatic infantile spasms and Lennox-Gastaut syndrome, as well as in those with Dravet syndrome. By contrast, a well-sustained topiramate efficacy was noted among patients with localization-related epilepsy. Globally, adverse events were observed in 161 patients (58%) and were mainly represented by weight loss, hyperthermia, sedation, and nervousness, which, in most cases, disappeared after slowing titration or reducing the dosage of the drug. In conclusion, the present long-term study confirms that topiramate represents a useful drug effective in a wide range of seizures and epilepsy syndromes. Moreover, preliminary data seem to suggest that the efficacy of topiramate, when evaluated in the long-term perspective, is more sustained in localization-related epilepsy than in generalized epilepsy.
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http://dx.doi.org/10.1177/08830738050200110601DOI Listing
November 2005

Childhood absence epilepsy: evolution and prognostic factors.

Epilepsia 2005 Nov;46(11):1796-801

Department of Pediatrics, Pediatric Neurology Section, University of Siena, Siena, Italy.

Purpose: To evaluate how diagnostic criteria influence remission rates for patients with childhood absence epilepsy (CAE) and to assess clinical and EEG parameters as predictors of outcome.

Methods: One hundred nineteen patients were diagnosed with CAE, according to International League Against Epilepsy (ILAE) classification criteria. They were subsequently evaluated according to stricter diagnostic criteria. Sixty-two subjects fulfilled these criteria as group 2; 57 did not and constituted group 1. Diagnostic parameters that prevented patients of group 1 from entering group 2, and variables such as sex, familial history of generalized epilepsy, and personal history of febrile convulsions also were tested as prognostic factors for terminal remission.

Results: Compared with those in group 1, patients of group 2 had significantly higher rates of seizure control (95% vs. 77%), higher rates of terminal remission (82% vs. 51%), fewer generalized tonic-clonic seizures (8% vs. 30%), and shorter mean periods of treatment (2.2 vs. 3.8 years). Significantly fewer patients were receiving polytherapy in group 2 than in group 1 (11% vs. 47%), and fewer patients had seizure relapses at antiepileptic drug discontinuation (0 vs. 22%).

Conclusions: Remission rates of patients with CAE are greatly influenced by the classification criteria used for selection. Stricter diagnostic criteria allow the definition of a homogeneous group of patients with excellent prognosis. Factors predicting unfavorable prognosis were generalized tonic-clonic seizures in the active stage of absences, myoclonic jerks, eyelid myoclonia or perioral myoclonia, and EEG features atypical for CAE.
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http://dx.doi.org/10.1111/j.1528-1167.2005.00277.xDOI Listing
November 2005

Typical absence seizures associated with localization-related epilepsy: a clinical and electroencephalographic characterization.

Epilepsy Res 2005 Aug-Sep;66(1-3):13-21

Department of Pediatrics, Pediatric Neurology Section, University of Siena, Ospedale Santa Maria Alle Scotte, Via M. Bracci, 53100 Siena, Italy.

Introduction: This paper describes the characteristics of patients with typical absence seizures associated with localization related epilepsy (LRE) and compares electroclinical features of absences occurring in these patients with those having childhood absence epilepsy (CAE).

Methods: Consecutive patients presenting with both LRE and typical absences in their epilepsy history were included in the study (Group 1). Clinical assessments and EEG investigations were conducted during the follow-up. Patients observed during the same period, but with typical absences fulfilling the CAE diagnostic criteria, were assigned to a second group (Group 2).

Results: Fourteen patients were included in Group 1. These patients had a mean age at their last visit of 11.3 years (range 7.2-16.8), with a mean follow-up period of 6.8 years. In all patients LRE was the first type of seizure to occur at median age of 4.95+/-2.1 years (range 1.9-8.8). Typical absences appeared at median age of 7.5+/-2.5 years (range 4.5-12.5), and were well controlled by therapy. Ictal EEG and semiology features of typical absences did not show any distinctive features when compared to those of Group 2 represented by 53 patients affected by CAE. However, age at onset was significantly higher in Group 1, as was the number of patients who underwent polytherapy, and the number with relapses after drug discontinuation. None of patients in Group 1 showed terminal remission.

Conclusion: Although clinically heterogeneous and rare, the association of LRE with typical absences may be more than coincidental. In these patients, typical absences responded well to therapy, but terminal remission rates were lower than for CAE patients.
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http://dx.doi.org/10.1016/j.eplepsyres.2005.06.006DOI Listing
January 2006

Post-ictal circulating levels of allopregnanolone in children with partial or generalized seizures.

Epilepsy Res 2005 Feb;63(2-3):97-102

Department of Pediatrics, Obstetrics, and Reproductive Medicine, University of Siena, Viale M. Bracci, Le Scotte, 53100 Siena, Italy.

Introduction: Allopregnanolone (3alpha-hydroxy-5alpha-pregnan-20-one) is a neurosteroid with a potent modulating activity on the gamma-aminobutyric acid (GABA)(a) receptor complex. It plays a key role in the epileptogenesis of partial seizures. Serum allopregnanolone concentrations significantly increase in the postcritical phase. In the present study we investigated the post-ictal serum allopregnanolone levels in children with partial seizures and generalized seizures, respectively.

Patients And Methods: Three groups of subjects were included in the study. Group 1 consisted of 18 children affected by complex partial seizures. Group 2 consisted of 11 children presenting with generalized epilepsy. Group 3 consisted of 20 healthy age-matched subjects. Serum allopregnanolone levels were assayed in the inter-ictal phase and within 30 min after an epileptic event.

Results: The data we obtained suggest that circulating allopregnanolone level significantly increases in the post-ictal phase. However, we found no significant differences in the post-ictal serum allopregnanolone concentrations between patients with partial seizures and those with generalized seizures.

Conclusions: Further studies are needed to establish if allopregnanolone is a reliable circulating marker of epileptic seizures. However, our observations seem to indicate that post-ictal circulating allopregnanolone level is not useful in differentiating focal and generalized epilepsy events.
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http://dx.doi.org/10.1016/j.eplepsyres.2004.12.002DOI Listing
February 2005

Non-progressive leukoencephalopathy with bilateral anterior temporal cysts: a case report and review of the literature.

Brain Dev 2005 Jan;27(1):73-7

Department of Pediatrics, University of siena, Viale M. Bracci-Le Scotte, 53100 Siena, Italy.

A newly described disease is characterized by anterior bilateral temporal lobe cysts associated with multilobar leukoencephalopathy and a non-progressive clinical course. We report a patient with bilateral anterior temporal lobe cystic changes associated with a non-progressive neurological disorder, microcephaly, spasticity, mental retardation, and sensorineural deafness. From the literature, 12 other patients have shown a similar phenotype. The common neuroradiological findings in these patients have been bilateral anterior temporal lobe cystic changes and non-progressive leukoencephalopathy. By contrast, variability in the clinical phenotype has been observed, ranging from severe neuromotor handicap with mental retardation and microcephaly to spasticity in the lower limbs associated with normal cognitive function. The pathological basis of the defect remains to be defined.
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http://dx.doi.org/10.1016/j.braindev.2004.04.009DOI Listing
January 2005

Epilepsy and electroencephalographic findings in pericentric inversion of chromosome 12.

J Child Neurol 2004 Aug;19(8):604-8

Department of Pediatrics, University of Siena, Siena, Italy.

Epilepsy, together with mental retardation, represents a common manifestation of chromosomal aberrations. Specific electroencephalographic (EEG) and epileptic patterns have been described in several chromosomal disorders, such as Angelman's syndrome, Miller-Dieker syndrome, Wolf-Hirschhorn syndrome, and ring 20 syndrome. A peculiar electroclinical pattern has also been identified in trisomy 12p syndrome. We report three patients with a pericentric inversion of chromosome 12, with breakpoints localized to p11-q13 and affected by epilepsy or EEG anomalies. Two suffered from epilepsy, which, in the clinical course, was mainly characterized by complex partial seizures with a semiology related to the temporal lobe. In one patient, myoclonic absences, head drop, and massive jerky attacks were also present. In both patients, generalized 3 Hz bursts were registered, together with multifocal and focal paroxysmal activity, which were most prominent in the temporoparietal and temporal areas, respectively. In the other patient, who had no epilepsy, EEG showed bioccipital paroxysmal activity. In all patients, the clinical picture was characterized by the presence of moderate mental retardation and behavioral disorders. The incidence of epilepsy or EEG anomalies among patients with a pericentric inversion of chromosome 12 remains to be ascertained. However, the present study confirms that chromosome 12 anomalies can be associated with epilepsy. Although myoclonic absence-like episodes can occasionally be part of the epileptic phenotype, the electroclinical pattern in pericentric inversion of chromosome 12 seems to be more polymorphic when compared with that observed in trisomy 12p syndrome.
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http://dx.doi.org/10.1177/088307380401900807DOI Listing
August 2004

Electroencephalographic and epileptic patterns in X chromosome anomalies.

J Clin Neurophysiol 2004 Jul-Aug;21(4):249-53

Department of Pediatrics, University of Siena, Siena, Italy.

Although epilepsy and mental retardation are commonly observed in individuals with chromosomal aberrations, the identification of EEG/epileptic profiles in those with specific chromosome anomalies remains difficult. A few syndromes seem to show peculiar clinical and EEG associations. The authors report an electroclinical investigation on a group of patients carrying X chromosome anomalies: 16 patients with Turner's syndrome, 17 with Klinefelter's syndrome, 1 with an X-autosomal rearrangement, 2 with Xq isochromosome [Xq(i)], and 7 with triple X syndrome. Epilepsy and/or EEG anomalies were found in three of the patients with Klinefelter's syndrome, in one patient with an X-autosomal rearrangement, and in five of those with triple X syndrome. No epilepsy or EEG anomalies were detected in the other patients. Epilepsy may be associated with Klinefelter's syndrome. In addition, the authors found that an electroclinical pattern, represented by paroxysmal activity in the posterior regions (temporo-parieto-occipital areas) with complex partial seizures and easily controlled by antiepileptic drugs, may be present in patients with triple X syndrome. In contrast, gross X-autosomal rearrangements are associated with polymorphic EEG/epileptic findings. Although further studies are needed to validate these observations, they clearly confirm the strict relationship between X chromosome anomalies and epilepsy.
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http://dx.doi.org/10.1097/00004691-200407000-00003DOI Listing
December 2004

Hot water epilepsy and focal malformation of the parietal cortex development.

Brain Dev 2004 Oct;26(7):490-3

Department of Pediatrics, Obstetrics and Reproductive Medicine, University of Siena, Viale M. Bracci, Le Scotte, 53100 Siena, Italy.

Hot water epilepsy (HWE) refers to a specific type of reflex epilepsy precipitated by the stimulus of bathing in hot water. HWE is considered to be a geographically specific epileptic syndrome since it mainly occurs in the Indian community. Spontaneous seizures may also occur later in life. The seizure pattern includes complex partial attacks. Although the pathogenesis of HWE is still unknown, temporal lobe has been thought to take part in the epileptogenesis. This paper reports on a 4-year-old girl who, at the age of 6 months, experienced complex partial seizures triggered by bathing in hot water. Non-provoked seizures intercritical EEG showed isolated spikes and spike-and-waves in the left parietal region. Brain MRI detected a left parietal focal cortical dysplasia. This is the second patient with HWE in whom a cortical malformation has been observed. The observation present here and data reported in the literature seem to indicate that the sensory cortex might also be involved in triggering seizures precipitated by a bath in hot water. Moreover, the authors believe that MRI examination should be considered for this group of patients.
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http://dx.doi.org/10.1016/j.braindev.2003.12.004DOI Listing
October 2004

Craniofacial dyssynostosis: case report and review.

Am J Med Genet A 2004 Sep;129A(3):300-2

Department of Pediatrics, Obstetrics and Reproductive Medicine, University of Siena, Siena, Italy.

Craniofacial dyssynostosis (CFD) is a rare disorder related to premature closure of the lambdoid suture and the posterior part of the sagittal suture. Epilepsy, mental retardation, abnormalities of the corpus callosum, and short stature have been reported. We studied a patient with CFD, hydronephrosis, and partially empty sella turcica; the latter two features are reported for the first time. We discuss the brain anomalies and their neurologic sequelae, which are part of the CFD phenotype.
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http://dx.doi.org/10.1002/ajmg.a.30186DOI Listing
September 2004

Factors associated with poor control in partial complex epilepsy.

J Child Neurol 2004 Apr;19(4):262-4

Department of Medicine, Section of Pediatrics, University of Chieti, Chieti, Italy.

To evaluate the predictive factors of response to anticonvulsant therapy in children with complex partial epilepsy, we studied prospectively 74 children and adolescents suffering from this type of epilepsy. All children were prospectively followed for at least 2 years after the beginning of anticonvulsant therapy. At the end of follow-up, the children were subdivided into two groups according to the frequency of seizures: group A, children who were seizure free in the last year, and group B, children with at least six seizures in the previous year. Children with a poor response to anticonvulsant therapy had a more frequent personal history of neonatal seizures, an interval of less than 6 months between the first and the second seizures, and persistent abnormal electroencephalograms than the seizure-free patients and were often treated with polytherapy.
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http://dx.doi.org/10.1177/088307380401900404DOI Listing
April 2004

Epilepsy in neurofibromatosis 1.

J Child Neurol 2003 May;18(5):338-42

Department of Pediatrics, University of Siena, Siena, Italy.

Neurofibromatosis 1 is the most common neurocutaneous disease. Neurologic manifestations are mainly represented by tumors such as optic gliomas, focal areas of high T2-weighted signal known as unidentified bright objects, and mental retardation or learning disabilities. The prevalence of seizures has been reported to range from 3.8 to 6%. In the present study, we evaluated prevalence, type, and etiology of epilepsy in a neurofibromatosis 1 population. A retrospective analysis of 198 patients affected by neurofibromatosis 1 was performed. Fourteen patients (7%) were found to be epileptic. Every patient underwent electroencephalographic examination and neuroimaging investigations. Thirteen were submitted to magnetic resonance imaging (MRI) study and one to computed tomographic (CT) scanning. Single-photon emission computed tomographic and positron emission tomographic studies were performed in a few selected cases. Seizures were partial in 12 of these (85%) and generalized in 2 (15%). In nine (64%), epilepsy was secondary to brain lesions: five of these had cerebral tumors (three with epilepsy as the fist symptom), three had cortical malformation, and one had mesial temporal sclerosis. Seizures were controlled rapidly in eight (57%) and drug resistant in four (29%). Two patients were lost at follow-up. All patients with uncontrolled seizures had severe mental retardation, and three of these had malformations of cortical development. Our observations and our re-evaluation of the literature indicate that patients with neurofibromatosis 1 have an increased risk of epilepsy related to intracranial masses and cytoarchitectural abnormalities, and seizures can represent the first symptom of a tumor or cortical malformation. Brain MRI and, in selected cases, functional studies appear to be useful in patients with neurofibromatosis 1 who present with seizures, especially if associated with mental retardation.
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http://dx.doi.org/10.1177/08830738030180050501DOI Listing
May 2003

Risk factors for recurrence of epilepsy and withdrawal of antiepileptic therapy: a practical approach.

Ann Med 2003 ;35(3):207-15

Department of Medicine, Section of Pediatrics, University of Chieti-Ospedale Policlinico, Italy.

In epileptic patients, treated with anticonvulsant drugs (AEDs), the question when and how an attempt should be made to withdraw therapy is a crucial point in the management of these patients. In recent years, many studies have identified the main risk factors for seizure recurrence after discontinuation of AEDs. Patients are more likely to have recurrences if there is a definite symptomatic aetiology, two or more different types of seizures, an abnormal neurological examination and a seizure onset at adolescence or later. In contrast, abnormal EEG has not been proved as a risk factor for recurrence. Moreover, the classification of epilepsy syndromes is another important predictor of the outcome for these patients. In practice, most authors suggest that medication is discontinued after a seizure-free period of two years. In this review we analyse data from the literature and we suggest a practical approach for safe anticonvulsant withdrawal, although the decision should always be made individually, weighing risks and benefits.
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http://dx.doi.org/10.1080/07853890310008260DOI Listing
October 2003

Medial temporal lobe dysgenesis in Muenke syndrome and hypochondroplasia.

Am J Med Genet A 2003 Jul;120A(1):88-91

Department of Pediatrics, Obstetrics and Reproductive Medicine, University of Siena, Viale M. Bracci-Le Scotte, 53100 Siena, Italy.

Hypochondroplasia (HCH) and Muenke syndrome (MS) are caused by mutations on FGFR3 gene. FGFR3 is known to play a role in controlling nervous system development. We describe the clinical and neuroradiological findings of the first two patients, to our knowledge, affected by HCH and MS, respectively, in whom bilateral dysgenesis of the medial temporal lobe structures has been observed. In both patients diagnosis was confirmed by molecular analysis. They were mentally normal and showed similarities in early-onset temporal lobe-related seizures. In both patients EEG recorded bilateral temporal region discharges. MRI detected temporal lobe anomalies with inadequate differentiation between white and gray matter, defective gyri, and abnormally shaped hippocampus.
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http://dx.doi.org/10.1002/ajmg.a.10171DOI Listing
July 2003

Schinzel-Giedion syndrome: a further cause of West syndrome.

Brain Dev 2003 Jun;25(4):294-8

Department of Pediatrics, Obstetrics, and Reproductive Medicine, University of Siena, Viale M. Bracci, Le Scotte, 53100 Siena, Italy.

Schinzel-Giedion syndrome (SGS) is a rare disorder with a likely autosomal recessive pattern of inheritance which is characterized by several facial dysmorphisms, midface hypoplasia, multiple skeletal anomalies including short and sclerotic skull base, short neck, and post-axial polydactyly. Cardiac and urogenital malformations are also present. Thirty-three cases have been described so far. We report on a boy affected by SGS in whom a long-term EEG follow-up showed a progressive deterioration of the background bioelectric activity ending, at the age of 19 months, with a hypsarrhythmic pattern clinically correlated with severe and refractory infantile spasms. EEG deterioration and neuroradiological findings, which showed progressive brain atrophy, confirm the neurodegenerative nature of SGS. We also re-evaluated all the published cases and found that 33% of patients with SGS experienced neonatal seizures and another 25% developed West syndrome in the following months. The seizures appeared extremely refractory to several anticonvulsive treatments. In conclusion, we believe that SGS should be included among the causes of secondary West syndrome.
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http://dx.doi.org/10.1016/s0387-7604(02)00232-2DOI Listing
June 2003

Inter-ictal and post-ictal circulating levels of allopregnanolone, an anticonvulsant metabolite of progesterone, in epileptic children.

Epilepsy Res 2003 Apr;54(1):29-34

Department of Pediatrics, Obstetrics, and Reproductive Medicine, University of Siena, Viale M. Bracci, Le Scotte, Siena 53100, Italy.

Allopregnanolone belongs to a group of neuroactive steroid hormones, or neurosteroids, synthesized and acting within the brain and is as a potent endogenous positive modulator of GABA(A) receptor complex. Administration of allopregnanolone protects rats against pentylentetrazol, bicuculline, kainic acid, and picrotoxin-induced seizures. We investigated serum allopregnanolone levels in children with active epilepsy at pubertal Tanner's stage I (n=52). Blood specimens were collected at least 12 h after a seizure (inter-ictal). In a subgroup of patients (n=11), specimens were also collected within 30 min from a seizure attack (post-ictal). Healthy age-matched children (n=18) served as controls. Serum allopregnanolone was measured by radioimmunoassay using a polyclonal antiserum. The inter-ictal serum allopregnanolone levels in the epileptic children were not statistically different from those detected in the control group, whereas post-ictal levels were significantly higher than the inter-ictal ones (P=0.0001). In this subgroup of patients allopregnanolone levels decreased to the basal values during the following 12 h. Serum allopregnanolone levels may therefore reflect changes in neuronal excitability, and allopregnanolone appears to be a reliable circulating marker of epileptic seizures. It is possible that increased post-ictal serum levels of allopregnanolone may play a role in modulating neuronal excitability and may represent an endogenous mechanism of seizure control.
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http://dx.doi.org/10.1016/s0920-1211(03)00042-1DOI Listing
April 2003

Celiac disease in a patient with beta-thalassemia major.

J Pediatr Gastroenterol Nutr 2003 Apr;36(4):489-91

Department of Pediatrics, Obstetrics and Reproductive Medicine, University of Siena, Viale Bracci 16, 53100 Siena, Italy.

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http://dx.doi.org/10.1097/00005176-200304000-00014DOI Listing
April 2003

Valproate-induced hyperammonemic encephalopathy.

Metab Brain Dis 2002 Dec;17(4):367-73

Department of Pediatrics, University of Chieti, Italy.

Valproic acid (VPA) is an effective anticonvulsant useful in many types of epilepsy and, although it is usually well tolerated, it has been associated with many neurological and systemic side effects. Among these, one of the most important is VPA-induced hyperammonemic encephalopathy (VHE): its typical signs are acute onset of impaired consciousness, focal neurologic symptoms, and increased seizure frequency. The pathogenesis of VHE is still unclear, but it has been suggested that hyperammonemia can produce encephalopathy via inhibition of glutamate uptake by astrocytes which may lead to potential neuronal injury and perhaps cerebral edema. Glutamine production is increased, whereas its release is inhibited in astrocytes exposed to ammonia. The elevated glutamine increases intracellular osmolarity, promoting an influx of water with resultant astrocytic swelling. This swelling could compromise astrocyte energy metabolism and result in cerebral edema with increased intracranial pressure. Moreover, VHE seems to be more frequently in patients with carnitine deficiency or with congenital urea cycle enzymatic defects.
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http://dx.doi.org/10.1023/a:1021918104127DOI Listing
December 2002

von Willebrand factor and its propeptide in children with diabetes. Relation between endothelial dysfunction and microalbuminuria.

Pediatr Res 2003 Mar;53(3):382-6

Department of Medicine, Section of Pediatrics, University of Chieti, Oespedale Policlinico, Chieti, Italy.

It has been shown that patients with insulin-dependent diabetes mellitus have elevated von Willebrand factor (vWF) plasma concentrations. Plasma fibrinogen, vWF, and its propeptide concentrations have been evaluated in 102 children with insulin-dependent diabetes mellitus to determine whether an increase of vWF and its propeptide levels precedes and may predict the development of persistent microalbuminuria. The patients have been divided into two groups according to the presence or absence of microalbuminuria at the end of follow-up. They have been followed up for at least 8 y. Control group consisted of 80 age- and sex-matched healthy volunteers. At the beginning of the study there was no significant difference in fibrinogen, vWF, and its propeptide levels between patients and control subjects. During the follow-up, a significant increase of plasma vWF and its propeptide has been observed in the group of patients who later developed microalbuminuria but not in those who remained normoalbuminuric. This increase started 3 y and become statistically significant (p < 0.01) 2 y before the onset of microalbuminuria, persisting until the end of the study. During the entire follow-up plasma values of fibrinogen persisted in the normal range. In conclusion, an increase in plasma concentration of vWF and its propeptide precedes microalbuminuria and, therefore, can be useful to identify children with insulin-dependent diabetes mellitus at risk to develop incipient nephropathy later in life.
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http://dx.doi.org/10.1203/01.PDR.0000049509.65496.BFDOI Listing
March 2003

Linear scleroderma associated with progressive brain atrophy.

Brain Dev 2003 Jan;25(1):57-61

Department of Pediatrics, Obstetrics and Reproductive Medicine, University of Siena, Viale M. Bracci - Le scotte, 53100 Siena, Italy.

Linear scleroderma (LS) is characterized by scleroatrophic lesions affecting limbs and legs, unilaterally. Neurological involvement may be associated with ipsilateral facial and skull involvement in disorders referred to clinically as LS 'en coup de sabre', and Parry-Romberg syndrome. We report a child with LS presenting with a severe neurological disorder characterized by epilepsy, progressive mental deterioration and a rapid process of atrophy involving the ipsilateral cerebral hemisphere, but not associated with an overlying facial structure involvement. Functional brain studies showed a reduction in the diameter of the left internal carotid and of the left middle cerebral artery. Our observations suggest that neuroimaging studies should be considered in all patients with linear scleroderma, and such studies become necessary when neurological symptoms occur.
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http://dx.doi.org/10.1016/s0387-7604(02)00147-xDOI Listing
January 2003

GM2 gangliosidosis variant B1 neuroradiological findings.

J Neurol 2003 Jan;250(1):17-21

Department of Pediatrics, Obstetrics, and Reproductive Medicine, University of Siena, Viale M. Bracci - Le scotte, 53100 Siena, Italy.

Variant B1 is a rare type of GM2 gangliosidosis. Clinically, it shows a wide spectrum of forms ranging from infantile to juvenile. We report the first magnetic resonance imaging (MRI) findings from three patients affected by GM2 gangliosidosis variant B1, two presenting with the infantile form and one with the juvenile form. The MRI appearances of the two patients with the infantile form disease are congruent with those reported for the early-onset type of both Tay-Sachs and Sandhoff diseases, and are characterized by early involvement of the basal ganglia and thalamus with cortical atrophy appearing later. In contrast, the patient with the juvenile form of variant B1 showed progressive cortical and white-matter atrophy of the supratentorial structures and, to a lesser extent, the infratentorial structures. No basal ganglia or thalamic anomalies were observed. Because in the adult forms of both Tay-Sachs and Sandhoff diseases a progressive cerebellar atrophy represents the only abnormality detectable, it appears that an MRI pattern peculiar to GM2 gangliosidosis can be defined. This pattern ranges from the basal ganglia injury associated with the early and severe demyelination process noted in the infantile form of the disease, to cerebellar atrophy with no supratentorial anomalies in the adult form. An "intermediate" MRI picture, with cortical atrophy and mild cerebellar atrophy, but without basal ganglia impairment, can be observed in the juvenile form. In addition, our investigations suggest that MRI abnormalities in GM2 gangliosidosis correlate with the clinical form of the disease rather than with the biochemical variant of the enzymatic defect.
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http://dx.doi.org/10.1007/s00415-003-0925-3DOI Listing
January 2003

Increased bone turnover in prepubertal, pubertal, and postpubertal patients receiving carbamazepine.

Epilepsia 2002 Dec;43(12):1488-92

Department of Medicine, Section of Pediatrics, University of Chieti, Italy.

Purpose: To study the markers of bone turnover in epilepsy patients in the different stages of the pubertal growth before and after the beginning of carbamazepine (CBZ) monotherapy.

Methods: We have investigated bone turnover in 60 epilepsy patients treated with CBZ. They were stratified according to pubertal stage and compared with a control group of 60 sex- and age-matched healthy children.

Results: After 2 years of therapy, we found higher values of the serum markers of bone formation [bone alkaline phosphatase (bone ALP), osteocalcin (OC), carboxy-terminal propeptide of type I procollagen (PICP), amino-terminal propeptide of type III procollagen (PIIINP)], and of bone resorption [carboxy-terminal telopeptide of type I collagen (ICTP) and the urinary cross-linked N-telopeptides of type I collagen (NTX)] in patients than in control subjects, in presence of a normal vitamin D metabolism.

Conclusions: CBZ induces an increase of bone formation and of bone resorption that seems to be independent of the pubertal stage.
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http://dx.doi.org/10.1046/j.1528-1157.2002.13002.xDOI Listing
December 2002

Ethylmalonic encephalopathy: further clinical and neuroradiological characterization.

J Neurol 2002 Oct;249(10):1446-50

Department of Pediatrics, Obstetrics, and Reproductive Medicine, University of Siena, Viale M. Bracci--Le scotte, 53100 Siena, Italy.

Ethylmalonic encephalopathy (EE) is a rare metabolic disorder with an autosomal recessive mode of inheritance that is clinically characterized by neuromotor delay, hyperlactic acidemia, recurrent petechiae, orthostatic acrocyanosis, and chronic diarrhea. Increased urinary levels of ethylmalonic acid and methylsuccinic acid are the main biochemical features of the disorder. We report on two patients affected by EE who showed different clinical and neuroradiological patterns. Patient 1 presented with a chronic clinical course characterized by very slow neuromotor deterioration, ataxia, and dysarthria. In contrast, patient 2 had an acute neonatal onset with severe neuromotor retardation, severe generalized hypotonia, and intractable seizures. Neuroradiological follow-up of patient 1 detected a diffuse hyperintensity on the T2 images at the basal ganglia which remained stable during a period of four years. Patient 2, in contrast, showed a rapid process of cerebral, and in part, cerebellar atrophy. On the basis of our observations, we reviewed the data published in the literature and tried to delineate the natural history of EE, which appears to be characterized by a wide spectrum of severity in the clinical course. No reports on neuroradiological follow-up of EE patients are available in the literature with which to compare our data. Finally, both patients showed a muscle COX deficiency. The pathogenetic implications of such a biochemical finding will be also discussed.
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http://dx.doi.org/10.1007/s00415-002-0880-4DOI Listing
October 2002

De novo complete trisomy 5p: clinical and neuroradiological findings.

Am J Med Genet 2002 Sep;112(1):56-60

Department of Pediatrics, University of Siena, Siena, Italy.

Partial or complete duplication of 5p is a rare chromosomal abnormality in which genotype-phenotype correlation studies are hampered by other commonly associated chromosomal abnormalities. We report on a new patient in whom a complete de novo trisomy 5p in all metaphases represented the only chromosomal aberration. The present case further contributes to delineate the typical clinical picture of the trisomy 5p syndrome. Long-term clinical follow-up demonstrated low levels of secretory immunoglobulin A (IgA) on several occasions and likely related to the patient's recurrent respiratory infections (RRIs), a main clinical feature of the trisomy 5p syndrome. An extensive neuroradiological study detected a progressive triventricular hydrocephalus during the fist year of life with subsequent stabilization. Neuronal migration disorders were also present and probably account for the drug-resistant epilepsy presented by the patient.
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http://dx.doi.org/10.1002/ajmg.10679DOI Listing
September 2002

Hereditary neuronal intranuclear inclusion disease with autonomic failure and cerebellar degeneration.

Arch Neurol 2002 Aug;59(8):1319-26

Department of Pediatrics, Obstetrics, and Reproductive Medicine, Section of Pediatrics, Policlinico Le Scotte, University of Siena, Siena, Italy.

Background: Neuronal intranuclear inclusion disease (NIID), a multiple-system degeneration, occurs usually as a sporadic disorder with onset in childhood. The disease has been found in monozygotic twins and in siblings. In 2 previously described families, the disorder has affected 2 generations.

Objective: To investigate the clinical, anatomical, and electrophysiological characteristics of NIID that affect the central nervous system and the central and peripheral components of the autonomic nervous system in 2 successive generations of a family.

Design: Case report.

Setting: Tertiary care hospital.

Patients: A 53-year old woman and her sons, aged 28 and 25 years. Symptoms began in childhood in 2 of the 3 cases, and consisted of urinary and fecal incontinence, erectile dysfunction in the men, and recurrent orthostatic hypotension.

Methods: We used results of clinical neurological evaluations; cranial magnetic resonance imaging; skeletal muscle and sphincter electromyography (EMG); peripheral nerve conduction and bulbocavernosus reflex studies; autonomic function tests; brainstem, visual, somatosensory, and motor evoked potentials; auditory and vestibular testing; metabolic and molecular genetic testing; and muscle and rectal biopsy with immunohistochemistry.

Results: We found variable degrees of ocular dysmetria in 2 cases, ataxic dysarthria and limb ataxia in 1, and hyperreflexia in 2. Magnetic resonance imaging revealed cerebellar atrophy in all 3 cases and diffuse cerebral cortical atrophy in 1. Results of peripheral nerve conduction studies were normal. Sphincter EMG findings were abnormal in 2 of the 3 cases, and results of autonomic function tests were abnormal in the same 2. The EMG in 1 case revealed a chronic neurogenic pattern in the distal limb muscles. Metabolic and molecular genetic testing revealed no abnormal findings. Results of the muscle biopsy were negative, but results of the rectal biopsy revealed eosinophilic ubiquitinated intranuclear inclusions in neurons.

Conclusion: Transmission of NIID in 2 generations presenting with autonomic failure and cerebellar ataxia was hereditary.
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http://dx.doi.org/10.1001/archneur.59.8.1319DOI Listing
August 2002

Insulin resistance in epileptic girls who gain weight after therapy with valproic acid.

J Child Neurol 2002 Apr;17(4):265-8

Department of Medicine, University of Chieti, Ospedale Policlinico, Italy.

Valproic acid is effective for treatment of many types of epilepsy, but its use in epileptic patients can be associated with an increase in body weight that could interfere with treatment compliance. The weight gain may result from different mechanisms, but the exact pathogenesis is still unknown. To evaluate insulin sensitivity in adolescents who gained weight during treatment with valproic acid, we studied 20 girls with different types of epilepsy: 15 patients had primary generalized seizures, including absence seizures (3 cases), and 5 patients had partial seizures. After 1 year of valproic acid treatment, the obese patients had serum insulin levels significantly higher than patients who did not gain weight (51.4 +/- 25.3 versus 28.2 +/- 12.9). Moreover, we observed that epileptic patients who gained weight were also insulin resistant in comparison with nonobese epileptic subjects. At the end of treatment, all patients showed normal levels of serum testosterone, androstenedione, dehydroepiandrosterone sulfate, follicle-stimulating hormone (FSH), and luteinizing hormone. We found no significant correlation between insulinemia and serum valproic acid concentrations in obese and nonobese patients treated with valproic acid. Our study demonstrates that basal hyperinsulinemia and insulin resistance can be present in patients who develop obesity during valproic acid treatment. Therefore, these obese patients could be exposed to the risks related to these metabolic abnormalities; if these data are confirmed in longer studies, these side effects may raise some concerns about the safety of valproic acid.
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http://dx.doi.org/10.1177/088307380201700405DOI Listing
April 2002

Pontocerebellar hypoplasia type 2: further clinical characterization and evidence of positive response of dyskinesia to levodopa.

J Neurol 2002 May;249(5):596-600

Department of Pediatrics, Obstetrics, and Reproductive Medicine, University of Siena, Viale M. Bracci - Le scotte, 53100 Siena, Italy.

Pontocerebellar hypoplasia type 2 (PCH2) is a very rare autosomal recessive disorder. We report two unrelated female patients born to consanguineous parents presenting with this condition. Patient 1 showed a classical clinical/neuroradiological phenotype of PCH2 with dyskinesia/dystonia. Patient 2 had a neonatal onset of PCH2 with polyhydramnios, apneic spells, myoclonus, and an akinetic/rigidity condition. Neuroradiologically, patient 2 showed extensive pancerebral degeneration. Based on these observations, and in accordance with the published cases, two groups of PCH2 patients may be defined: (a) patients with dyskinesia/dystonia, severe hypoplasia of the infratentorial structures and less severe involvement of the supratentorial brain; and (b) patients with polyhydramnios, neonatal onset with tremulousness (hyperekplexia), no spontaneous activity, absence of dyskinesia and pancerebral degeneration. Finally, we report a dramatic positive response of the patient with dyskinesia/dystonia to levodopa treatment, and discuss the associated physiopathological implications.
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http://dx.doi.org/10.1007/s004150200069DOI Listing
May 2002

Typical and atypical rolandic epilepsy in childhood: a follow-up study.

Pediatr Neurol 2002 Jan;26(1):26-9

Department of Pediatrics-Policlinico Colle Dell'Ara, University of Chieti, Via dei Vestini 5, I-66013 Chieti, Italy.

Atypical features of rolandic epilepsy are not uncommon, although the long-term prognosis of this condition is not known. Eighty-five children (50 male and 35 female) attending the Department of Pediatrics of the University of Chieti, the Department of Pediatrics of Brindisi Hospital, and the Department of Neurology of San Valentino Hospital were selected for the study; these patients were subdivided into two groups according to their clinical presentation. Group A consisted of children who suffered from typical rolandic epilepsy and Group B consisted of children with atypical features of rolandic epilepsy. All patients of both groups were re-evaluated after at least 8 years from the first evaluation, and the frequency of seizures and the response to treatment were similar in the two groups of children. In spite of this fact, in patients who suffered from atypical rolandic epilepsy, we found a significantly higher percentage of learning and behavioral disabilities than in children affected by the classical form of rolandic epilepsy (45.5% vs 7.8%; P < 0.0001). In conclusion, atypical rolandic epilepsy seems to be associated with a high percentage of learning and behavioral disorders.
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http://dx.doi.org/10.1016/s0887-8994(01)00353-8DOI Listing
January 2002