6 results on '"Toldo, I."'
Search Results
2. PP05.15 – 2915: A case of neonatal onset leukoencephalopathy with brainstem and spinal cord involvement and lactate elevation (LBSL) with rapid progression.
- Author
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Boscardin, C., Sartori, S., Mardari, R., Suppiej, A., and Toldo, I.
- Abstract
Objective To present a case of LBSL with neonatal onset and with rapid progression and to review the literature focused on LBSL with early onset (before one year of age). Methods We report a case of an infant admitted at our Child Neurology Unit in November 2014 with LBSL, investigated with blood and cerebrospinal spinal fluid (CSF) tests, brain and spinal magnetic resonance imaging (MRI). Results The patient was admitted at our hospital at 2 months of age because of severe hypotonia. She had regular antenatal and perinatal story. At birth physical and neurological examination were normal. At two weeks of age nystagmus was noticed and after few weeks, she started to be hyporeactive and hypotonic. At our examination she had severe and diffuse hypotonia, brisk reflex at legs and nystagmus. CSF examination showed an increased lactate (7.4 mmol/L, range 1.2–2.2 mmol/L). Cerebral (including spectroscopy) and spinal MRI showed changes in white matter consistent with LBSL. Two weeks later she developed respiratory arrest and needed mechanical ventilatory support. Steroid therapy was administered without results. Genetic test is in progress. Conclusion LBSL is a rare disease described for the first time in 2003 by Van der Knaap et al. as a mild disorder with childhood and adolescent onset and slow progression. In the Literature we found two cases with neonatal onset, rapid deterioration and death respectively at 2 and 3 year of age and 16 cases with onset before 12 months (mean 8 months) and early death in 6/16 cases. We add to the pertinent literature a new case of LBSL with neonatal onset having a rapid and deteriorating course. This condition should be suspected in neonates or infants with leukoencephalopathy on brain MRI and lactic acidosis in CSF. Spinal MRI and specific genetic tests are needed to confirm the diagnosis. [ABSTRACT FROM AUTHOR]
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- 2015
- Full Text
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3. PP13.1 – 2834: Paediatric anti-N-methyl-D-aspartate receptor encephalitis: The first Italian multicenter case series.
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Sartori, S., Pelizza, M.F., Nosadini, M., Cesaroni, E., Falsaperla, R., Capovilla, G., Mancardi, M.M., Santangelo, G., Cantalupo, G., Cappellari, A., Costa, P., Bernardina, B. Dalla, Dilena, R., Pruna, D., Serino, D., Vanadia, E., Vigevano, F., Zanus, C., Toldo, I., and Suppiej, A.
- Abstract
Objective Given the rarity of this condition, especially in children, there is a paucity of literature reporting large case series of paediatric anti-N-methyl-D-aspartate receptor encephalitis. Our goal is to contribute to define the features of paediatric anti-N-methyl-D-aspartate receptor encephalitis. Methods We describe a new nationwide case series of 20 children (50% females), referred by 13 Italian centers. Results Mean age at onset was 8 years (range 3–17). Prodromal symptoms were reported in 31.6%; onset was with neurological symptoms in 70%, and with behavioral/psychiatric disturbances in 30%. Most patients developed a severe clinical picture (90%), and 41% experienced medical complications; children 12–18 years old seemed to be more severe and symptomatic than younger patients. All children received first-line immune therapy; second-line treatment was administered to 45%. Relapses occurred in 15%. Most patients recovered substantially (80%); this rate was higher among older patients, and in those receiving first immune therapy within 1 month. Conclusion Our case series confirms a symptomatologic core of paediatric anti-N-methyl-D-aspartate receptor encephalitis, even though displaying some distinctive features that may be explained by a specific genetic background or by the limited number of the patients. The growing incidence of this condition, the relative age-dependent variability of its manifestations, the availability of immunotherapy and the possible better outcome with early treatment impose a high index of clinical suspicion be maintained. Paediatricians should consider this diagnosis for children presenting with neurological and/or behavioral or psychiatric disturbances, regardless of age and gender, especially in the absence of data suggesting other specific etiologies. Other authors: F. Beccaria, L. Giunta, C. Boniver, M.G. Natali Sora, N. Zamponi. [ABSTRACT FROM AUTHOR]
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- 2015
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4. P133 – 2909: Hemiplegic migraine with onset in childhood: The first multicenter Italian study.
- Author
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Toldo, I., Rattin, M., Pelizza, M.F., Moscano, F., Tozzi, E., Verrotti, A., Carotenuto, M., Lisotto, C., Ruffatti, S., Termine, C., Maggioni, F., Battistella, P.A., and Sartori, S.
- Abstract
Objective To describe the natural history of sporadic and familial hemiplegic migraines (SHM and FHM) with onset in the pediatric age. Methods Retrospective observational study of 28 cases, visiting 9 Italian Centers for Juvenile Headache, diagnosed as SHM or FHM (ICHD-III b version, 2013) with onset under 16 years and with a longitudinal follow-up. Results 28 cases (17 females, 11 males): 23 SHM (14 females, 9 male), 5 FHM (3 females, 2 male). Family history was positive for migraine without aura (5/28) or with aura non hemiplegic (8/28). Triggering factors were found in 13/28 cases. Age at HM onset: mean 10.1 y, range 4–16 y (5/28 cases under 6 y). Mean duration of aura was 11h 13' (range 5′–48 h). Between HM attacks, neurologic examination was normal in 26/28 cases. At follow-up: mean age 16.9 y (range 6.5–47 y), mean duration of follow-up 8.1 y (range 2.5–38 y). The frequency of attacks ranged from 2 per month to less than 1 per year (mean 5–6 every year). During follow-up, FHM and SHM cases showed some differences: in cases with SHM attacks were less frequent but more severe while FHM patients had less intense but more frequent attacks and also a longer duration of disease. Preventive therapy for HM was prescribed to 12/28 cases. Conclusion In the Literature data on the natural history of HM are quite limited, particularly in children. In the majority of our cases, the frequency and the type of attacks were quite variable, and in less than half of the cases trigger factors were identified. The majority of our patients had a good prognosis, even in cases with early onset of HM and/or prolonged and/or severe HM attacks. The natural history of SHM seems to differ from the FHM. [ABSTRACT FROM AUTHOR]
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- 2015
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5. PP09.14 – 2843: Congenital absence of gluteal muscles without spina bifida occulta: The first case report.
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Vigo, G., Toldo, I., De Grandis, D., Beltrame, V., Sartori, S., and Suppiej, A.
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Objective To present a case of congenital gluteal muscles absence associated with renal ectopia, without spina bifida occulta. Methods A 3-years-old child was referred to our child Neurology Unit for motor delay and walking difficulties. Familial and pregnancy history were unremarkable except for right renal ectopia diagnosed with antenatal ultrasound. At birth, he presented flexed hips and lower limbs rigidity. He started walking at 19 months. Neurological examination (28 months) showed waddling gait, gluteal muscles hypoplasia and lumbar hyperlordosis. Laboratory findings, imaging and electrophysiological exams were performed. Results At 28 months of age the child underwent electromyography (with needle of 50 mm) that showed absence of voluntary activity in the territory of gluteal muscles, with normal response in the regions of vastus medialis and sural triceps and normal nerve conduction studies. Laboratory findings (creatine phosphokinase and transaminases) were normal. Musculoskeletal and pelvis magnetic resonance imaging (MRI) revealed a complete, symmetrical fibroadipose replacement of gluteus, gracilis, semitendinosus, semimembranosus and biceps femoris muscles, anterior legs muscles were normal. Spinal magnetic resonance excluded spina bifida occulta. Right kidney was ectopic. Conclusion Bilateral symmetrical congenital absence of muscles is rare, other than Eagle-Barrett syndrome. So far, only three cases of congenital absence of gluteal muscles have been reported and they all had spina bifida occulta. To the best of our knowledge, our case is the first report of congenital absence of gluteal muscles without spinal dysraphism. The only remarkable finding was the kidney ectopia, never described in association with gluteus' agenesis by previous Literature. This association could be explained by a disruption of normal embryologic migration of mesodermal cells during gestational age. Muscular MRI and extensive electromyography should be considered in the diagnostic work-up of children with motor delay and walking difficulties and with clinical suspicion of neuromuscular disorders. [ABSTRACT FROM AUTHOR]
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- 2015
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6. PP04.12 – 3020: Chromosomal rearrangements of 6p25.3 and Moyamoya syndrome: A non-incidental association.
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Po, C., Suppiej, A., Causin, F., Talenti, G., D'Avella, D., Sartori, S., and Toldo, I.
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Objective To present a case carrying a chromosomal rearrangement of the 6p25.3 locus and diagnosed with Moyamoya syndrome. Methods A Caucasian 4 years-and-9-months-old girl was admitted to a peripheral hospital for vomiting and acute left hemiparesis, followed by left arm clonic seizures, aphasia and confusion. Phenytoin stopped the crisis, but hemiparesis persisted. EEG documented widespread slow waves, mainly on the right hemisphere. Computed tomography (third day) showed hypodensity of the entire right hemisphere. Past history was characterized by prematurity (born at 32 g.w.), cardiac defects (atrial septal defect, patent ductus arteriosus), surgically corrected at 3 years old. High resolution karyotype showed this rearrangement: 46, XX, der(6)dup(6) (p24p23)del(6)(p25). Cognitive level was borderline. On day 4 the girl was transferred to our Child Neurology Unit where she underwent a complete workup. Results Echocardiogram: normal; carotid doppler ultrasound: bilateral stenosis of internal carotid arteries; brain magnetic resonance imaging (MRI): ischemic areas in territories supplied by right middle and anterior cerebral arteries; brain angio-MRI: bilateral multiple stenosis of anterior and posterior cerebral arteries and collateral circulation consistent with Moyamoya syndrome. Therefore, after a digital angiography, the patient underwent an encephalo-duro-arterial-myo-sinangiosis. The post-operative period was uneventful. Conclusion Moyamoya syndrome is known to be associated to some genetic conditions (such as Neurofibromatosis type 1, Alagille syndrome and Trisomy 21). To date, only one pediatric case with Moyamoya syndrome and chromosomal rearrangement of 6p25.3 has been reported, similar to our patient. Therefore, all patients presenting with a chromosomal rearrangement involving the 6p25.3 locus should be studied with brain angio-MRI; moreover this genetic region should be investigated to identify possible disease-specific genes for Moyamoya syndrome. [ABSTRACT FROM AUTHOR]
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- 2015
- Full Text
- View/download PDF
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