Publications by authors named "Rosario Berardi"

11 Publications

  • Page 1 of 1

A 3 Mb deletion in 14q12 causes severe mental retardation, mild facial dysmorphisms and Rett-like features.

Am J Med Genet A 2008 Aug;146A(15):1994-8

Medical Genetics Molecular Biology Department, University of Siena, Siena, Italy.

The present report describes a 7-year-old girl with a de novo 3 Mb interstitial deletion of chromosome 14q12, identified by oligo array-CGH. The region is gene poor and contains only five genes two of them, FOXG1B and PRKD1 being deleted also in a previously reported case with a very similar phenotype. Both patients present prominent metopic suture, epicanthic folds, bulbous nasal tip, tented upper lip, everted lower lip and large ears and a clinical course like Rett syndrome, including normal perinatal period, postnatal microcephaly, seizures, and severe mental retardation. FOXG1B (forkhead box G1B) is a very intriguing candidate gene since it is known to promote neuronal progenitor proliferation and to suppress premature neurogenesis and its disruption is reported in a patient with postnatal microcephaly, corpus callosum agenesis, seizures, and severe mental retardation.
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http://dx.doi.org/10.1002/ajmg.a.32413DOI Listing
August 2008

A comparative study of hydrocortisone versus deflazacort in drug-resistant epilepsy of childhood.

Epilepsy Res 2008 Sep 3;81(1):80-5. Epub 2008 Jun 3.

Department of Pediatrics, Pediatric Neurology Section, University of Siena, Viale M. Bracci, Le Scotte, Siena, Italy.

Steroids are commonly used for the treatment of intractable epilepsy. Deflazacort has shown similar effects to prednisone, but with a less worrying adverse-effect profile. In this study, we first compared the efficacy, safety, and seizure relapse rate of deflazacort versus hydrocortisone in children affected by drug-resistant epilepsies. This was an open, non-blinded, randomized clinical study of 35 children affected by drug-resistant epilepsies. The study lasted 12 months. Group 1 (16 patients) received hydrocortisone for 6 months; group 2 (19 patients) was treated with deflazacort for the entire study period. Drug efficacy and tolerability were evaluated after 6 months of therapy. Seizure relapse rates were evaluated 12 months after the start of the study. After 6 months of therapy, hydrocortisone was effective in 44% of patients (responders, with a decrease in seizure frequency of >50%). Deflazacort was effective in 47% of patients (P=0.9). Adverse events occurred in 37% of patients using hydrocortisone and in none of those using deflazacort (P=0.002). At the end of the study, seizure relapse rate resulted significantly higher in group 1 than in group 2 (P=0.04). Hydrocortisone may be useful in the treatment of severely drug-resistant childhood epilepsies. However, its effects may be transient. Deflazacort should be considered in the therapeutic armamentarium for epileptic encephalopathies. The drug is as effective as hydrocortisone and may be used in therapy for a long period, with a less worrying adverse-effect profile.
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http://dx.doi.org/10.1016/j.eplepsyres.2008.04.016DOI Listing
September 2008

Bilateral periventricular nodular heterotopia and lissencephaly in an infant with unbalanced t(12;17)(q24.31; p13.3) translocation.

Dev Med Child Neurol 2008 Jun 1;50(6):473-6. Epub 2008 Apr 1.

Department of Paediatrics, Paediatric Neurology Section, University of Siena, Siena, Italy.

Periventricular nodular heterotopia and Miller-Dieker syndrome are two different disorders of brain development. Miller-Dieker syndrome exhibits classical lissencephaly and is related to defects in the lissencephaly gene (LIS1). Periventricular nodular heterotopia is characterized by aggregates of grey matter adjacent to the lateral ventricle and is mainly linked to mutations in the Filamin A (FLNA) gene. We describe a male infant presenting with facial dysmorphisms resembling those of Miller-Dieker syndrome, neuromotor delay, and drug - resistant infantile spasms. Magnetic resonance imaging of the brain showed periventricular nodular heterotopia overlaid by classical lissencephaly with complete agyria. Cytogenetic and molecular investigations detected a maternally inherited unbalanced translocation involving chromosome arms 17p and 12q. This resulted in partial monosomy of 17p13.3-->pter and partial trisomy of 12q24.3-->qter. No mutation was found in the FLNA gene. The patient died at the age of 22 months from respiratory insufficiency during an infection of the lower respiratory tract. Our observation extends the list of the overlying cortical malformations associated with periventricular nodular heterotopia. It remains to be established whether this peculiar neuronal migration disorder represents a phenotype totally linked to 17q13.3 deletion or results from a combination of gene defects at 17q13.3 and 12q24.3.
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http://dx.doi.org/10.1111/j.1469-8749.2008.02058.xDOI Listing
June 2008

Late-onset childhood occipital epilepsy (Gastaut type): a family study.

Eur J Paediatr Neurol 2008 Sep 30;12(5):421-6. Epub 2008 Jan 30.

Department of Pediatrics, Pediatric Neurology Section, University of Siena, Siena Santa Maria alle Scotte Hospital, Siena, Italy.

Late onset childhood occipital epilepsy-Gastaut type (LOCOE) is a rare idiopathic epilepsy syndrome with an uncertain long-term prognosis. Elementary visual hallucinations and interictal spike-and-wave complexes in the occipital areas represent the main electroclinical findings of the syndrome. The functional nature of LOCOE has been emphasized together with the presence of genetic predisposition in the affected patients. Here, we report on two families in which two patients, respectively, showed electroclinical features compatible with LOCOE. Although further studies are needed to validate our observations, the involvement of two generations in one of the families we studied may corroborate the previously formulated hypothesis of an autosomal dominant model of inheritance in LOCOE. Of course, the identification of larger families is propaedeutic to linkage analysis studies.
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http://dx.doi.org/10.1016/j.ejpn.2007.11.007DOI Listing
September 2008

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

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

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

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

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

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

Recurrent torticollis caused by dissecting vertebral artery aneurysm in a pediatric patient: results of endovascular treatment by use of coil embolization: case report.

Neurosurgery 2002 Jan;50(1):204-7; discussion 207-8

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

Objective And Importance: Torticollis is a symptom that can be related to different pathological mechanisms ranging from simple to life-threatening conditions. We report a child with recurrent torticollis caused by an intracranial dissecting vertebral artery aneurysm. This is a very rare condition in childhood, and it was resolved successfully with endovascular treatment.

Clinical Presentation: The patient was a 10-year-old boy with a 4-year history of left recurrent torticollis, followed by hemiparesis, dysarthria, dysmetria, and tremor. Brain magnetic resonance imaging and digital angiography detected a dissecting aneurysm involving the fourth segment of the left vertebral artery.

Intervention: The patient underwent endovascular treatment. Coil embolization, followed by histoacryl injection into the lesion, provided complete obliteration of the aneurysmal sac.

Conclusion: The patient's postoperative course was characterized by a dramatic disappearance of symptoms and signs within a few hours of the intervention. No relapses of symptoms occurred during a follow-up period of 18 months. This is the first report of a child in whom recurrent torticollis was related to a dissecting vertebral artery aneurysm. Although long-term results of vertebral artery coil embolization remain to be elucidated, the method seems reliable and effective in treatment of these vascular lesions in pediatric patients.
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http://dx.doi.org/10.1097/00006123-200201000-00031DOI Listing
January 2002