0000000000899889
AUTHOR
Raffaele Falsaperla
showing 44 related works from this author
Benign and severe early-life seizures: a round in the first year of life
2018
Abstract Background At the onset, differentiation between abnormal non-epileptic movements, and epileptic seizures presenting in early life is difficult as is clinical diagnosis and prognostic evaluation of the various seizure disorders presenting at this age. Seizures starting in the first year of life including the neonatal period might have a favorable course, such as in infants presenting with benign familial neonatal epilepsy, febrile seizures simplex or acute symptomatic seizures. However, in some cases, the onset of seizures at birth or in the first months of life have a dramatic evolution with severe cerebral impairment. Seizure disorders starting in early life include the “epilepti…
From Neonatal Intensive Care to Neurocritical Care: Is It Still a Mirage? The Sicilian Multicenter Project
2021
Background. Neonatal brain injury (NBI) can lead to a significant neurological disability or even death. After decades of intense efforts to improve neonatal intensive care and survival of critically ill newborns, the focus today is an improved long-term neurological outcome through brain-focused care. The goal of neuroprotection in the neonatal intensive care unit (NICU) is the prevention of new or worsening NBI in premature and term newborns. As a result, the neonatal neurocritical care unit (NNCU) has been emerging as a model of care to decrease NBI and improve the long-term neurodevelopment in critically ill neonates. Purpose. Neurocritical care (NCC) Sicilian project includes three aca…
Intronic Variant in CNTNAP2 Gene in a Boy With Remarkable Conduct Disorder, Minor Facial Features, Mild Intellectual Disability, and Seizures
2020
Introduction: Mutations in the contactin-associated protein-like 2 (CNTNAP2) gene (MIM#604569) encoding for CASPR2, a cell adhesion protein of the neurexin family, are known to be associated with autism, intellectual disability, and other neuropsychiatric disorders. A set of intronic deletions of CNTNAP2 gene has also been suggested to have a causative role in individuals with a wide phenotypic spectrum, including Pitt-Hopkins syndrome, cortical dysplasia–focal epilepsy syndrome, Tourette syndrome, language dysfunction, and abnormal behavioral manifestations. Case presentation: A 10-years-old boy was referred to the hospital with mild intellectual disability and language impairment. Moreove…
Inter-society consensus for the use of inhaled corticosteroids in infants, children and adolescents with airway diseases
2021
Abstract Background In 2019, a multidisciplinary panel of experts from eight Italian scientific paediatric societies developed a consensus document for the use of inhaled corticosteroids in the management and prevention of the most common paediatric airways disorders. The aim is to provide healthcare providers with a multidisciplinary document including indications useful in the clinical practice. The consensus document was intended to be addressed to paediatricians who work in the Paediatric Divisions, the Primary Care Services and the Emergency Departments, as well as to Residents or PhD students, paediatric nurses and specialists or consultants in paediatric pulmonology, allergy, infecti…
Congenital muscular dystrophy: from muscle to brain.
2016
Congenital muscular dystrophies (CMDs) are a wide group of muscular disorders that manifest with very early onset of muscular weakness, sometime associated to severe brain involvement. The histologic pattern of muscle anomalies is typical of dystrophic lesions but quite variable depending on the different stages and on the severity of the disorder. Recent classification of CMDs have been reported most of which based on the combination of clinical, biochemical, molecular and genetic findings, but genotype/phenotype correlation are in constant progression due to more diffuse utilization of the molecular analysis. In this article, the Authors report on CMDs belonging to the group of dystroglyc…
Pathogenic correlation between mosaic variegated aneuploidy 1 (MVA1) and a novel BUB1B variant: a reappraisal of a severe syndrome.
2022
Funder: Università degli Studi di Catania
Febrile infection-related Epilepsy Syndrome (FIRES): a severe encephalopathy with status epilepticus. Literature review and presentation of two new c…
2022
AbstractFIRES is defined as a disorder that requires a prior febrile infection starting between 2 weeks and 24 h before the onset of the refractory status epilepticus with or without fever at the onset of status epilepticus. The patients, previously normal, present in the acute phase recurrent seizures and status epilepticus followed by a severe course with usually persistent seizures and residual cognitive impairment. Boundary with “new onset refractory status epilepticus (NORSE) has not clearly established. Pathogenetic hypothesis includes inflammatory or autoimmune mechanism with a possible genetic predisposition for an immune response dysfunction.Various types of treatment have been pro…
Pyridoxine dependent epilepsies: new therapeutical point of view
2017
Abstract Pyridoxine dependent epilepsies (PDEs) are rare autosomal recessive disorders with onset in neonatal period. Seizures are typically not responsive to conventional antiepileptic drugs, but they cease after parental pyridoxine administration. Atypical forms are characterized partly response to pyridoxine and a late onset of symptoms (up to the age of three years). Prevalence is variable and it has rarely been described. The genes involved in PDEs are the gene encoding for the Alpha-aminoadipic-semialdehyde dehydrogenase (ALDH7A1) and PROSC gene, which encodes a pyridoxal-5-phosphate binding protein. Mutations in the gene encoding for the pyridoxal-5′-phosphate oxidase enzyme (PNPO) a…
Oxidative stress in preterm infants: Overview of current evidence and future prospects
2020
Preterm birth (PTB), defined as parturition prior to 37 weeks of gestation, is the leading cause of morbidity and mortality in the neonatal population. The incidence and severity of complications of prematurity increase with decreasing gestational age and birthweight. The aim of this review study is to select the most current evidence on the role of oxidative stress in the onset of preterm complication prevention strategies and treatment options with pre-clinical and clinical trials. We also provide a literature review of primary and secondary studies on the role of oxidative stress in preterm infants and its eventual treatment in prematurity diseases. We conducted a systematic literature s…
Role of oxidative stress in neonatal respiratory distress syndrome
2019
Respiratory distress syndrome is the commonest respiratory disorder in preterm infants. Although it is well known that preterm birth has a key role, the mechanisms of lung injury have not been fully elucidated. The pathogenesis of this neonatal condition is based on the rapid formation of the oxygen reactive species, which surpasses the detoxification capacity of anti-oxidative defense system. The high reactivity of free radical leads to damage to a variety of molecules and may induce respiratory cell death. There is evidence that the oxidative stress involved in the physiopathology of this disease, is particularly related to oxygen supplementation, mechanical ventilation, inflammation/infe…
Microcephaly/Trigonocephaly, Intellectual Disability, Autism Spectrum Disorder, and Atypical Dysmorphic Features in a Boy with Xp22.31 Duplication
2019
The Xp22.31 segment of the short arm of the human X chromosome is a region of high instability with frequent rearrangement. The duplication of this region has been found in healthy people as well as in individuals with varying degrees of neurological impairment. The incidence has been reported in a range of 0.4-0.44% of the patients with neurological impairment. Moreover, there is evidence that Xp22.31 duplication may cause a common phenotype including developmental delay, intellectual disability, feeding difficulty, autistic spectrum disorders, hypotonia, seizures, and talipes. We report on a patient with microcephaly and trigonocephaly, moderate intellectual disability, speech and languag…
Prognostic Challenges of SCN1A Genetic Mutations: Report on Two Children with Mild Features
2016
Mutations in the gene encoding the α-1 subunit of the voltage-gated sodium channel (SCN1A) are associated with variable but usually severe clinical course, both for the epileptic seizures and the cognitive impairment. The purpose of the present study was to retrospectively review two patients affected by seizures and two different types of SCN1A gene mutations (microdeletion and point mutation). The children (a 4-year-old girl and a 3-year-old boy) were affected by generalized tonic–clonic seizures and myoclonic jerks plus unilateral seizures, respectively. Genetic analyses showed, in the girl, the presence of a 4 MB deletion involving SCN1A and four other genes, and a point mutation in the…
7q31.32 partial duplication: First report of a child with dysmorphism, autistic spectrum disorder, moderate intellectual disability and, epilepsy. Li…
2019
Abstract Introduction Duplication of long arm of chromosome 7(q) is uncommon. It may occur as “pure”, isolated anomaly or in association with other mutations involving the same or other chromosomes. “Pure” chromosome 7q duplication has recently been classified by segment involved: the interstitial, proximal, or distal segment of the arm. Attempts to correlate genotype with phenotype in each group has yielded questionable results even though intellective disability and minor dysmorphic features of variable types are typically seen. Material and Methods In a young boy showing minor facial dysmorphism, language delay, autistic spectrum disorder, epileptic seizures, behavioral disturbances and …
Molecular Mechanism Involved in the Pathogenesis of Early-Onset Epileptic Encephalopathy
2019
Recent studies have shown that neurologic inflammation may both precipitate and sustain seizures, suggesting that inflammation may be involved not only in epileptogenesis but also in determining the drug-resistant profile. Extensive literature data during these last years have identified a number of inflammatory markers involved in these processes of “neuroimmunoinflammation” in epilepsy, with key roles for pro-inflammatory cytokines such as: IL-6, IL-17 and IL-17 Receptor (IL-17R) axis, Tumor-Necrosis-Factor Alpha (TNF-α) and Transforming-Growth-Factor Beta (TGF-β), all responsible for the induction of processes of blood-brain barrier (BBB) disruption and inflammation of the Central Nervou…
Epidemiology and diagnostic and therapeutic management of febrile seizures in the Italian pediatric emergency departments: A prospective observationa…
2015
AIM: Febrile seizures (FS) involve 2-5% of the paediatric population, among which Complex FS (CFS) account for one third of accesses for FS in Emergency Departments (EDs). The aim of our study was to define the epidemiology, the clinical, diagnostic and therapeutic approach to FS and CFSs in the Italian EDs. METHODS: A multicenter prospective observational study was performed between April 2014 and March 2015. Patients between 1 and 60 months of age, randomly accessing to ED for ongoing FS or reported FS at home were included. Demographic features and diagnostic-therapeutic follow-up were recorded. FS were categorized in simple (<10min), prolonged (10-30min) and status epilepticus (>3…
Preterm birth: seven-year retrospective study in a single centre population
2019
Preterm birth is a health and social problem, considered the leading cause of neonatal mortality worldwide. It is associated with higher rates of neurodevelopmental morbidity, sensorineural impairments and other complications. The aim of the study was to describe the incidence and the major risk factors associated with preterm birth. METHODS: We performed a single center, observational and retrospective Cohort study in the Division of Obstetrics and Gynaecology, University Hospital "G. Martino", Messina. Clinical records of all pregnant women who delivered from 1st January 2010 to 31 of December 2016 were collected. RESULTS: In the 7 years considered, a total of 7954 pregnant women were inc…
Cerebral White Matter Lesions and Dysmorphisms: Signs Suggestive of 6p25 Deletion Syndrome—Literature Review
2019
AbstractDeletion of the region including chromosome 6p25 has been defined as a syndrome, with more than 68 reported cases. Individuals affected by the syndrome exhibit variable findings, including developmental delay and intellectual disability, cardiac anomalies, dysmorphic features, and—less commonly—skeletal and renal malformations. Ocular and hearing abnormalities are the most notable presenting features. The region encompasses more than 15 genes, of which the FOX group is the most likely causal factor of the clinical manifestations. We report the case of a 2-year-old child with developmental delay, generalized hypotonia, facial dysmorphism, and anomalies involving malformations of the …
Current status of laboratory and imaging diagnosis of neonatal necrotizing enterocolitis
2018
Abstract Necrotizing enterocolitis continues to be a devastating disease process for very low birth weight infants in Neonatal Intensive Care Units. The aetiology and pathogenesis of necrotizing enterocolitis are not definitively understood. It is known that necrotizing enterocolitis is secondary to a complex interaction of multiple factors that results in mucosal damage, which leads to intestinal ischemia and necrosis. Advances in neonatal care, including resuscitation and ventilation support technology, have seen increased survival rates among premature neonates and a concomitant detection in the incidence of this intestinal disease. Diagnosis can be difficult, and identifying infants at …
WDR45 Gene and Its Role in Pediatric Epilepsies
2021
AbstractWD repeat domain 45 (WDR45) gene has been increasingly found in patients with developmental delay (DD) and epilepsy. Previously, WDR45 de novo mutations were reported in sporadic adult and pediatric patients presenting iron accumulation, while heterozygous mutations were associated with β-propeller protein-associated neurodegeneration (BPAN), a subtype of neurodegeneration with brain iron accumulation disorders, characterized by extrapyramidal movement disorders and abnormal accumulation of iron in the basal ganglia. Overall, people harboring WDR45 mutations have moderate to severe DD and different types of seizures. The phenotype of adult patients is characterized by extrapyramidal…
NF1 microdeletion syndrome: case report of two new patients
2019
Abstract Background 17q11.2 microdeletions, which include the neurofibromatosis type 1 (NF1) gene region, are responsible for the NF1 microdeletion syndrome, observed in 4.2% of all NF1 patients. Large deletions of the NF1 gene and its flanking regions are associated with a more severe NF1 phenotype than the NF1 general population. Case presentation We hereby describe the clinical and molecular features of two girls (aged 2 and 4 years, respectively), with non-mosaic atypical deletions. Patient 1 showed fifteen café-au-lait spots and axillary freckling, as well as a Lisch nodule in the left eye, strabismus, high-arched palate, malocclusion, severe kyphoscoliosis, bilateral calcaneovalgus fo…
High mobility group box 1 and markers of oxidative stress in human cord blood.
2019
Background Parturition induces considerable oxidative stress and many inflammatory mediators, such as high mobility group box 1 (HMGB1), are involved from the beginning of the pregnancy to birth. The aim of the present study was to evaluate serum cord blood concentration of diacron-reactive oxygen metabolites (d-ROM), biological antioxidant potential (BAP), and HMGB1 to investigate the perinatal oxidative status of neonates and correlation with mode of delivery, as well as the influence of labor. Methods The subjects consisted of 214 neonates delivered at University Hospital "G. Martino", Messina, in a 6 months period. Venous blood samples were collected from the umbilical cord after cord s…
Chromosome 15q BP4-BP5 Deletion in a Girl with Nocturnal Frontal Lobe Epilepsy, Migraine, Circumscribed Hypertrichosis, and Language Impairment
2020
The 15q13.3 microdeletion (microdel15q13.3) syndrome (OMIM 612001) has been reported in healthy subjects as well as in individuals with a wide spectrum of clinical manifestations ranging from mild to severe neurological disorders, including developmental delay/intellectual disability, autism spectrum disorder, schizophrenia, epilepsy, behavioral problems and speech dysfunction. This study explored the link between this genomic rearrangement and nocturnal frontal lobe epilepsy (NFLE), which could improve the clinical interpretation. A clinical and genomic investigation was carried out on an 8-year-girl with a de novo deletion flanking the breakpoints (BPs) 4 and 5 of 15q13.3 detected by arra…
Levetiracetam in Neonatal Seizures as First-line Treatment: A Prospective Study
2017
Aim of the Study: The aim of this study is to evaluate the efficacy and safety of levetiracetam (LEV) as first-line treatment of neonatal seizures. Materials and Methods: This study was conducted in patients of Neonatal Intensive Care Unit of Santo Bambino Hospital, University of Catania, Italy, from January to August 2016. A total of 16 neonates with convulsions not associated with major syndromes, which required anticonvulsant therapy, were included and underwent IV LEV at standard doses. Results: All patients responded to treatment, with a variety range of seizure resolution period (from 24 h to 15 days; mean hours: 96 ± 110.95). No patient required a second anticonvulsant therapy. Regar…
Influenza vaccination: opinions of health care professionals working in pediatric emergency departments
2018
Abstract Background Vaccine coverage of health care professionals against influenza is still low in Italy, as well as in other European countries. Methods Between March and May 2018, this study was performed to collect the opinions of Pediatric health care professionals, working in emergency departments, regarding the efficacy and safety of the influenza vaccine. An anonymous online survey was employed to evaluate socio-demographic and professional characteristics, knowledges, beliefs and attitudes. Results Five hundred four health care professionals completed the survey: 331 physicians, 140 nurses and 33 other health are professionals. During the 2017–18 season, 55.8% of physicians, 19.3% …
A clinical review on megalencephaly: A large brain as a possible sign of cerebral impairment
2017
Megalencephaly and macrocephaly present with a head circumference measurement 2 standard deviations above the age-related mean. However, even if pathologic events resulting in both megalencephaly and macrocephaly may coexist, a distinction between these two entities is appropriate, as they represent clinical expression of different disorders with a different approach in clinical work-up, overall prognosis, and treatment. Megalencephaly defines an increased growth of cerebral structures related to dysfunctional anomalies during the various steps of brain development in the neuronal proliferation and/or migration phases or as a consequence of postnatal abnormal events. The disorders associate…
Ventilation, oxidative stress and risk of brain injury in preterm newborn
2020
AbstractPreterm infants have an increased risk of cognitive and behavioral deficits and cerebral palsy compared to term born babies. Especially before 32 weeks of gestation, infants may require respiratory support, but at the same time, ventilation is known to induce oxidative stress, increasing the risk of brain injury. Ventilation may cause brain damage through two pathways: localized cerebral inflammatory response and hemodynamic instability. During ventilation, the most important causes of pro-inflammatory cytokine release are oxygen toxicity, barotrauma and volutrauma. The purpose of this review was to analyze the mechanism of ventilation-induced lung injury (VILI) and the relationship…
Ketogenic diet for infants with epilepsy: A literature review.
2020
Abstract The ketogenic diet (KD) is an established, nonpharmacological treatment for drug-resistant epilepsy (DRE). Actually, KD and its variants have been shown to be elective and resolute for patients with glucose transporter type 1 (GLUT1) deficiency. The aim of this review was to study the use of KD and its variants in infancy, including the neonatal age, and demonstrate the safety and efficacy of this treatment in patients with the age of 0–23 months affected by DRE already subjected to pharmacological approach attempts. A literature search was conducted using PubMed as the medical database source. We used the age limit of 0–23 months, and we considered only articles published between …
Primary Microcephaly with Novel Variant of MCPH1 Gene in Twins: Both Manifesting in Childhood at the Same Time with Hashimoto's Thyroiditis
2020
AbstractThis study is a clinical report on twin females affected by primary microcephaly who displayed at molecular analysis of heterozygous novel MCPH1 variant. The twins at the age of 10 years developed, in coincidental time, a diagnosis of autoimmune juvenile thyroiditis. The main clinical features presented by the twins consisted of primary microcephaly with occipitofrontal circumference measuring −2 or −3 standard deviation, facial dysmorphism, typical nonsyndromic microcephaly, and mild intellectual disability. Molecular analysis of the major genes involved in primary microcephaly was performed and the following result was found in the twins: MCPH1; chr8.6357416; c.2180 C > T (rs 1…
Long-term follow-up and novel genotype-phenotype analysis of monozygotic twins with ATP1A3 mutation in Alternating Hemiplegia of Childhood-2
2020
Alternating Hemiplegia of Childhood (AHC) is a rare disorder characterized by frequent, transient attacks of hemiplegia involving either side of the body or both in association to several other disturbances including dystonic spells, abnormal ocular movements, autonomic manifestations, epileptic seizures and cognitive impairment. The clinical manifestations usually start before the age of 18 months. Two forms of the disorder known as AHC-1 (MIM#104290) and AHC-2 (MIM#614820) depends on mutations in ATP1A2 and ATP1A3 genes respectively, with over 75% of AHC caused by a mutation in the ATP1A3 gene. Herewith, we report serial clinical follow-up data of monozygotic (MZ) twin sisters, who presen…
A novel GABRB3 variant in Dravet syndrome: Case report and literature review
2020
Abstract Background Mutations in GABRB3 have been identified in subjects with different types of epilepsy and epileptic syndromes, including West syndrome (WS), Dravet syndrome (DS), Lennox‐Gastaut syndrome (LGS), myoclonic‐atonic epilepsy (MAE), and others. Methods and results We herewith report on a girl affected by DS, who has been followed from infancy to the current age of 18 years. Next‐generation sequencing (NGS)‐based genetic testing for multigene analysis of neurodevelopmental disorders identified two likely de novo pathogenic mutations, a missense variant in GABRB3 gene (c.842 C>T; p.Thr281IIe) and a nonsense variant found in BBS4 gene (c.883 C>T; p.Arg295Ter). Conclusion A likely…
Symptomatic seizures in preterm newborns: A review on clinical features and prognosis
2018
Abstract Neonatal seizures are the most common neurological event in newborns, showing higher prevalence in preterm than in full-term infants. In the majority of cases they represent acute symptomatic phenomena, the main etiologies being intraventricular haemorrhage, hypoxic-ischemic encephalopathy, central nervous system infections and transient metabolic derangements. Current definition of neonatal seizures requires detection of paroxysmal EEG-changes, and in preterm newborns the incidence of electrographic-only seizures seems to be particularly high, further stressing the crucial role of electroencephalogram monitoring in this population. Imaging work-up includes an integration of serial…
PRRT2 gene variant in a child with dysmorphic features, congenital microcephaly, and severe epileptic seizures: genotype-phenotype correlation?
2019
Abstract Background Mutations in Proline-rich Transmembrane Protein 2 (PRRT2) have been primarily associated with individuals presenting with infantile epilepsy, including benign familial infantile epilepsy, benign infantile epilepsy, and benign myoclonus of early infancy, and/or with dyskinetic paroxysms such as paroxysmal kinesigenic dyskinesia, paroxysmal non-kinesigenic dyskinesia, and exercise-induced dyskinesia. However, the clinical manifestations of this disorder vary widely. PRRT2 encodes a protein expressed in the central nervous system that is mainly localized in the pre-synaptic neurons and is involved in the modulation of synaptic neurotransmitter release. The anomalous functio…
Epileptic seizures as a manifestation of cow's milk allergy: a studied relationship and description of our pediatric experience
2014
Adverse reactions after ingestion of cow's milk proteins can occur at any age, from birth and even amongst exclusively breast-fed infants, although not all of these are hypersensitivity reactions. The most common presentations related to cow's milk protein allergy are skin reactions, failure to thrive, anaphylaxis as well as gastrointestinal and respiratory disorders. In addition, several cases of cow's milk protein allergy in the literature have documented neurological involvement, manifesting with convulsive seizures in children. This may be due to CNS spread of a peripheral inflammatory response. Furthermore, there is evidence that pro-inflammatory cytokines are responsible for disruptin…
Short-Term Neurodevelopmental Outcome in Term Neonates Treated with Phenobarbital versus Levetiracetam: A Single-Center Experience
2019
Background. Phenobarbital (PB) has been traditionally used as the first-line treatment for neonatal seizures. More recently, levetiracetam (LEV) has been increasingly used as a promising newer antiepileptic medication for treatment of seizures in neonates. Objectives. The aim of our study was to compare the effect of PB vs. LEV on short-term neurodevelopmental outcome in infants treated for neonatal seizures. Method. This randomized, one-blind prospective study was conducted on term neonates admitted to the Neonatal Intensive Care Unit of S. Bambino Hospital, University Hospital “Policlinico-Vittorio Emanuele,” Catania, Italy, from February 2016 to February 2018. Thirty term neonates with s…
N-BiPAP vs n-CPAP in term neonate with respiratory distress syndrome
2020
Abstract Background Non-invasive respiratory ventilation has greatly improved the evolution of respiratory distress in neonates, especially for preterm infants, but few studies have investigated the use of non-invasive ventilation (NIV) in term infants. It is useful for neonatologists and nurses to identify the optimal ventilation strategy in terms of effectiveness for this group of newborns. The aim of our study was to investigate what type of respiratory support between nasal Continuous Positive Airway Pressure (nCPAP) or nasal Biphasic Positive Airway Pressure (nBiPAP) is more effective in term neonates with RDS. Methods Our study was a retrospective observational study of 78 full term n…
Alternating Hemiplegia of Childhood: neurological comorbidities and intrafamilial variability.
2022
Abstract Background Alternating of Childhood (AHC) is an uncommon and complex disorder characterized by age of onset before 18 months with recurrent hemiplegia of one or either sides of the body or quadriplegia. The disorder is mainly caused by mutations in ATP1A3 gene, and to a lesser extent in ATP1A2 gene. In AHC neurological co-morbidities are various and frequently reported including developmental delay, epilepsy, tonic or dystonic spells, nystagmus,autonomic manifestations with intrafamilial variability. Case presentation Clinical and genetic findings of a couple of twins (Family 1: Case 1 and Case 2) and a couple of siblings (Family 2: Case 3 and Case 4) coming from two different Ital…
Apnea events in neonatal age: A case report and literature review.
2019
Abstract Background Among the most common autonomic signs visible in preterm neonates, apnea can represent the first sign of several neurologic and non-neurologic disorders, and seizure is a relatively infrequent cause. Herein authors present a case of neonatal autonomic apnea, discussing the polygraphic video-EEG features of this pathological entity and the differential diagnosis with central apnea and autonomic apnea. Case report A female preterm Caucasian infant (29 + 4 weeks' gestational age (GA)), first twin of a twin pregnancy, at birth was intubated and surfactant administration was performed. She was ventilated via invasive ventilation for three days, with subsequent weaning with no…
Chromosome 15q BP3 to BP5 deletion is a likely locus for speech delay and language impairment: Report on a four‐member family and an unrelated boy
2020
Abstract Background Deletions in chromosome 15q13 have been reported both in healthy people and individuals with a wide range of behavioral and neuropsychiatric disturbances. Six main breakpoint (BP) subregions (BP1‐BP6) are mapped to the 15q13 region and three further embedded BP regions (BP3‐BP5). The deletion at BP4‐BP5 is the rearrangement most frequently observed compared to other known deletions in BP3‐BP5 and BP3‐BP4 regions. Deletions of each of these three regions have previously been implicated in a variable range of clinical phenotypes, including minor dysmorphism, developmental delay/intellectual disability, epilepsy, autism spectrum disorders, behavioral disturbances, and speec…
Congenital generalized hypertrichosis: the skin as a clue to complex malformation Syndromes.
2015
Hypertrichosis is defined as an excessive growth in body hair beyond the normal variation compared with individuals of the same age, race and sex and affecting areas not predominantly androgen-dependent. The term hirsutism is usually referred to patients, mainly women, who show excessive hair growth with male pattern distribution. Hypertrichosis is classified according to age of onset (congenital or acquired), extent of distribution (generalized or circumscribed), site involved, and to whether the disorder is isolated or associated with other anomalies. Congenital hypertrichosis is rare and may be an isolated condition of the skin or a component feature of other disorders. Acquired hypertri…
Delayed neonatal visual evoked potentials are associated to asymmetric growth pattern in twins
2020
Abstract Objectives To study the association between intrauterine growth and visual pathways maturation by neonatal visual evoked potentials (VEPs) in twins, in view of a possible prognostic role. Methods Seventy-four twin neonates from 37 pregnancies were selected based on gestational age of more than 30 weeks and uneventful perinatal clinical course. Flash VEPs were recorded at the same postmenstrual age in each twin pair. The association between P2 latency and anthropometric variables at birth was analyzed by comparison within each twin pair and regarding each variable as ordered difference between the two twins. Results Analysis of differences within each twin pair highlighted that inte…
Ocular Motor Paroxysmal Events in Neonates and Infants: A Review of the Literature
2021
Abstract Background Ocular paroxysmal events can accompany a variety of neurological disorders. Particularly in infants, ocular paroxysmal events often represent a diagnostic challenge. Distinguishing between epileptic and nonepileptic events or between physiological and pathologic paroxysmal events can be challenging at this age because the clinical evaluation and physical examination are often limited. Continuous polygraphic video-electroencephalography (EEG) monitoring can be helpful in these situations. Methods We review ocular paroxysmal events in newborns and infants. The aim is to improve clinical recognition of ocular paroxysmal events and provide a guide to further management. Usin…
MOESM1 of NF1 microdeletion syndrome: case report of two new patients
2019
Additional file 1. Timelines of the clinical cases.
A clinical review on megalencephaly
2017
Abstract Megalencephaly and macrocephaly present with a head circumference measurement 2 standard deviations above the age-related mean. However, even if pathologic events resulting in both megalencephaly and macrocephaly may coexist, a distinction between these two entities is appropriate, as they represent clinical expression of different disorders with a different approach in clinical work-up, overall prognosis, and treatment. Megalencephaly defines an increased growth of cerebral structures related to dysfunctional anomalies during the various steps of brain development in the neuronal proliferation and/or migration phases or as a consequence of postnatal abnormal events. The disorders …
Additional file 1 of Alternating Hemiplegia of Childhood: neurological comorbidities and intrafamilial variability
2022
Additional file 1: S1. AHC diagnostic and laboratory test. Routine laboratory examination, plasma amino acids, urine organic acids, blood lactate, pyruvate, urea, ammonia, thyroid functions, arterial blood gases (ABG), EEG, Video-EEG, MRI and MRI angiography are effective to exclude metabolic disorders and vascular diseases having the same pattern of features such as homocystinuria, organic acidurias (glutaric aciduria), urea cycle disorders (ornithine transcarbamylase deficiency, carbamoyl phosphate synthetase I deficiency, and citrullinemia) and Moyamoya disease. Diagnostic check-up may also include analysis of pterins, 5-methyltetrahydrofolate (5-MTHF) and monoamine metabolites in the ce…