Publications by authors named "Alberto Fois"

10 Publications

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A randomized trial of oral betamethasone to reduce ataxia symptoms in ataxia telangiectasia.

Mov Disord 2012 Sep 23;27(10):1312-6. Epub 2012 Aug 23.

Child Neurology and Psychiatry Unit, Azienda Ospedaliera Universitaria Senese/University of Siena, Policlinico Le Scotte, Siena, Italy.

No controlled studies exist regarding the pharmaceutical reduction of ataxia symptoms in ataxia telangiectasia (A-T). In a multicenter, double-blind, randomized, placebo-controlled crossover trial, oral betamethasone (BETA) and placebo were compared in terms of their reduction of ataxia symptoms as assessed with the International Cooperative Ataxia Rating Scale (ICARS). In this study of 13 A-T children, betamethasone reduced the ICARS total score by a median of 13 points in the intent-to-treat population and 16 points in the per-protocol population (ie, median percent decreases of ataxia symptoms of 28% and 31%, respectively). In conclusion, Oral betamethasone could be a promising therapy to relieve ataxia symptoms in A-T patients; however, long-term effectiveness and safety must be established. (Current Controlled Trials, number ISRCTN08774933.)
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http://dx.doi.org/10.1002/mds.25126DOI Listing
September 2012

Infantile spasms: review of the literature and personal experience.

Authors:
Alberto Fois

Ital J Pediatr 2010 Feb 8;36:15. Epub 2010 Feb 8.

Institute of Clinical Pediatrics, University of Siena, Siena, Italy.

This epileptic disorder has become a classic topic for neuropediatricians and the interest is documented by the large number of publications on this subject.The relative frequency among the epileptic syndromes is an another reason why not only neuropediatricians but also general pediatricians must be fully informed about diagnostic, clinical, imaging and genetic aspects.Early diagnosis is of paramount importance in order to obtain even complete results in patients with so called idiopathic situations. A number of problems are still to be solved. There is no agreement on the type and the schedule of treatment. A common denominator about this problem is not jet available even if some advances in this regard have been accomplished. Of paramount importance is an accurate clinical and laboratory examination as a prerequisite regarding prognosis and results of therapy in every single case.However, even if more than 170 years have elapsed since the first communication of dr. West on the peculiar syndrome that his child was suffering of, the interest of scientists on this subject has now been enriched and rewarded.
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http://dx.doi.org/10.1186/1824-7288-36-15DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2829573PMC
February 2010

New neurocutaneous syndrome with defect in cell trafficking and melanosome pathway: the future challenge.

Brain Dev 2008 Aug 28;30(7):461-8. Epub 2008 Jan 28.

Department of Pediatrics, Section of Pediatrics Neurology and Pediatrics Neuropsychiatric Unit, Azienda Ospedaliera Universitaria Senese, Policlinico Le Scotte, University of Siena, Viale Bracci, I-53100 Siena, Italy.

Objective: Case study of a CNS impairment lacking in presumptive cause; case presents with a clinical phenotype encompassing multiple differently expressed and combined symptoms, as well as a subtle skin defect.

Materials And Methods: A 6-year-old male with apparently isolated mental delay, speech delay, attention deficit/hyperactivity disorder, epilepsy, and subtle and insignificant skin dyschromias. The patient underwent a systematic evaluation, including clinical history; medical, neurological and ophthalmologic examinations. Skin, teeth, nails, hair and sudation were examined for defects. Routine laboratory tests for blood, urine, were performed. The proband had thyroid function tests, electrocardiography, genitourinary system and abdominal examinations. Special examinations pertaining to mental performance, biochemistry, chromosome studies, imaging and electrodiagnostic studies, and skin biopsy were also performed.

Results: Investigators ruled out genetic syndromes, congenital infections, fetal deprivation, perinatal insults, intrauterine exposure to drug abuse, and postnatal events such as CNS infections as possible common causes of brain impairment. Being all further test negative, the patient exhibited an ultrastructural defect of the skin, identical to that previously described [Buoni S, Zannolli R, de Santi MM, Macucci F, Hayek J, Orsi A et al. Neurocutaneous syndrome with mental delay, autism, blockage in intracellular vesicular trafficking and melanosome defects. Eur J Neurol 2006;13:842-51], suggesting that some cell compartments, such as rough endoplasmic reticulum, lysosomes, Golgi apparatus, and the vesicular zone (racket) of Birbeck granules, sharing similar components, can be altered, resulting in a common defect in cell trafficking, associated to melanosome defects.

Conclusions: This new devasting, ultrastructural phenotype accompanied by apparently unspecific and mixed neurological symptoms should represent a future challenge to finally discover the pathogenesis of many childhood CNS symptoms, that currently seem to lack any apparent cause.
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http://dx.doi.org/10.1016/j.braindev.2007.12.008DOI Listing
August 2008

Hypohidrotic ectodermal dysplasia and intrathoracic neuroblastoma.

Pediatr Dermatol 2007 May-Jun;24(3):267-71

Department of Pediatrics, Section of Pediatric Neurology, Policlinico Le Scotte, University of Siena, Siena, Italy.

We report a 6-year-old girl with a subtle form of hypohidrotic ectodermal dysplasia and a phenotype consisting of curly hair, a round face, a stocky build, and obesity, which was associated with intrathoracic neuroblastoma. Although this new association could be a chance occurrence, its description may alert physicians to look for similar combinations and report these, as it may lead to better syndrome delineation, and patient care.
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http://dx.doi.org/10.1111/j.1525-1470.2007.00400.xDOI Listing
July 2007

Betamethasone and improvement of neurological symptoms in ataxia-telangiectasia.

Arch Neurol 2006 Oct;63(10):1479-82

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

Background: To our knowledge, there have been no reports on the control of central nervous system symptoms in patients with ataxia-telangiectasia.

Objective: To preliminarily determine the effectiveness of corticosteroid therapy on the central nervous system symptoms of a child with ataxia-telangiectasia in whom neurological signs improved when, occasionally, he was given betamethasone to treat asthmatic bronchitis attacks.

Design: Case report.

Setting: Tertiary care hospital. Patient A 3-year-old boy with the classic hallmarks and a proved molecular diagnosis of ataxia-telangiectasia.

Interventions: We used betamethasone, 0.1 mg/kg per 24 hours, divided every 12 hours, for 4 weeks to preliminarily determine its effectiveness on the child's central nervous system symptoms and its safety. Methylprednisolone, 2 mg/kg per 24 hours, divided every 12 hours, was then given in an attempt to perform a long-term treatment.

Results: There were improvements in the child's neurological symptoms 2 or 3 days after the beginning of the drug treatment. After 2 weeks of treatment, the improvement was dramatic: the disturbance of stance and gait was clearly reduced, and the control of the head and neck had increased, as had control of skilled movements. At 4 weeks of treatment, adverse effects mainly included increased appetite and body weight and moon face. No beneficial effect was obtained when, after 4 weeks, betamethasone was replaced with methylprednisolone. Six months later, without therapy, the child continued to experience severe signs of central nervous system impairment.

Conclusion: Controlled studies to better understand the most appropriate drug and therapeutic schedule are required.
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http://dx.doi.org/10.1001/archneur.63.10.1479DOI Listing
October 2006

Familial robertsonian 13;14 translocation with mental retardation and epilepsy.

J Child Neurol 2006 Jun;21(6):531-3

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

Familial reports of a robertsonian translocation in more than two generations are rare. We report three generations (a daughter, the mother, and the mother's father) with a heterozygous, balanced robertsonian translocation t(13;14)(q11;q11). Central nervous system disease was present, but differentially expressed, in generations I and III. The daughter presented with mental delay and epilepsy, and the mother was apparently healthy, whereas the mother's father was again symptomatic, with borderline intelligence. Fluorescent in situ hybridization analysis was performed to exclude a loss or gain of chromosomal material. No uniparental disomy was present. We concluded that genetic counseling in the presence of this rearrangement was extremely difficult, independent of the affected parent being symptomatic or asymptomatic.
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http://dx.doi.org/10.1177/08830738060210060701DOI Listing
June 2006

D-bifunctional protein deficiency associated with drug resistant infantile spasms.

Brain Dev 2007 Jan 21;29(1):51-4. Epub 2006 Aug 21.

Department of Pediatrics, Section of Pediatric Neurology, Policlinico Le Scotte, University of Siena, Siena, Italy.

Peroxisomal disorders appear with a frequency of about 1:5000 in newborns. Peroxisomal D-bifunctional protein (D-BP), encoded by the HSD17B4 gene (gene ID: 3294; locus tag: HGNC:5213, chromosome 5q2; official symbol: HSD17B4; name: hydroxysteroid (17-beta) dehydrogenase; gene type: protein coding) (OMIM *601860), comprises an 80 kDa multifunctional enzyme involved in peroxisomal beta-oxidation of certain fatty acids and the synthesis of bile acids. Its deficiency causes a very severe, Zellweger-like clinical phenotype and most patients die within the first year of life. In this paper, we report a case of D-BP deficiency in a patient with two heterozygous trinucleotide deletions (233_235 del AAG and 824_826 del AGA) in the HSD17B4 gene. The patient suffered from a peculiar epileptic phenotype (i.e. a West syndrome with a "modified hypsarrhythmic pattern"--Hrachovy et al. Epilepsia 1984;25:317-25), clinically appearing as drug-resistant asymmetric spasms. Vigabatrin seemed the most effective among the antiepileptic drugs. The patient died at the age of 23 months owing to respiratory complications. To date, only a few patients with D-BP deficiency have been described in the literature. This case adds to our knowledge of the clinical presentation of bifunctional protein deficiency.
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http://dx.doi.org/10.1016/j.braindev.2006.06.004DOI Listing
January 2007

Combined treatment with vigabatrin and topiramate in West syndrome.

J Child Neurol 2004 May;19(5):385-6

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

The clinical and electroencephalographic (EEG) response to combined therapy with vigabatrin and topiramate was evaluated in five patients ages 7 to 15 months affected by West syndrome in an open-label trial. Four patients had cryptogenic and one patient had symptomatic (tuberous sclerosis) West syndrome. In cryptogenic patients who failed to respond to pyridoxine, vigabatrin was titrated to 80 to 100 mg/kg. Because control of infantile spasms or an EEG improvement was not obtained with vigabatrin treatment, topiramate was added (3-3.8 mg/kg/day). In all patients, the combined therapy with topiramate and vigabatrin achieved a rapid and complete normalization of infantile spasms, and in three patients with cryptogenic West syndrome, the EEG also became normal. In only one patient, transient anorexia was observed. This drug combination led to rapid neurodevelopmental normalization in cryptogenic patients. The results are promising and justify more trials in larger numbers of children with West syndrome.
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http://dx.doi.org/10.1177/088307380401900512DOI Listing
May 2004

Vagus nerve stimulation for drug-resistant epilepsy in children and young adults.

Brain Dev 2004 Apr;26(3):158-63

Department of Pediatrics, Obstetric and Reproductive Medicine, Section of Pediatrics, Policlinico Le Scotte, Viale Bracci, 53100, University of Siena, Siena, Italy.

We present our experience with the use of intermittent vagal nerve stimulation in 13 patients with medically intractable epilepsy. A surgical approach, with the exception of callosotomy, was impossible. The age range was 6-28 years (median 17 years). In all patients the epilepsy was severe and in six of them was symptomatic. Seven patients had Lennox-Gastaut syndrome, one epilepsy with myoclonic-astatic seizures, four localization-related and one symptomatic generalized epilepsy. The length of the follow-up averaged 22 months (range 8 months-3 years). Of the 13 patients, five (38.4%) had a 50% or more reduction in the number of seizures compared with preimplantation. Of these patients, one with a localization-related epilepsy had a 90% reduction as well as a significant improvement in alertness. Three patients showed no improvement with regard to the number of seizures but there was an improvement in alertness and, in one case in hyperactivity. Some seizure types responded better than others did: complex partial seizures with secondary generalization and atonic seizures. All our responsive patients improved in the first 2 months of VNS activation and only one case with further improvement was observed after this period. Considering the severity of the epilepsy the results can be considered satisfactory. We think that this treatment appears to be a safe adjunctive therapy for children and adults with medically and surgically intractable epilepsy.
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http://dx.doi.org/10.1016/S0387-7604(03)00120-7DOI Listing
April 2004

Hemimegalencephaly in tuberous sclerosis complex.

J Child Neurol 2002 Sep;17(9):677-80

Unit of Diagnostic and Therapeutic Neuroradiology, Azienda Ospedaliera Senese, and InterDepartmental Center of Nuclear Magnetic Resonance, Policlinico Le Scotte, Siena, Italy.

The purpose of this case report is to describe the computed tomographic and magnetic resonance imaging findings of the brain of a 16-month-old girl with an uncommon association between hemimegalencephaly and tuberous sclerosis complex. When a large calcification is found within a hemimegalencephalic cerebral hemisphere, further investigation of a suspected associated tuberous sclerosis complex or another phakomatosis is required to determine pertinent treatment options and genetic counseling.
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http://dx.doi.org/10.1177/088307380201700905DOI Listing
September 2002