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Is Autonomic Nervous System Involved in the Epileptogenesis in Preterm Neonates?

Maternal-Fetal Medicine 2023年第3期5卷 173-181页

作者： Raffaele Falsaperla Giovanna Vialiti Janette Mailo giovanni corsello Martino Ruggieri Neonatal Intensive Care Unit San Marco HospitalUniversity Hospital Policlinico-“G.Rodolico-San Marco”Via Azeglio CiampiCatania 95100Italy Unit of Pediatrics and Pediatric Emergency University Hospital Policlinico-“G.Rodolico-San Marco”Via Azeglio CiampiCatania 95100Italy Division of Pediatric Neurology University of AlbertaStollery Children’s Hospital8440-112 St NWEdmontonAlbertaCanada Department of Maternal and Child Health University of PalermoVia del Vespro 129Palermo 90127Italy Unit of Rare Diseases of the Nervous System in Childhood Department of Clinical and Experimental MedicineSection of Pediatrics and Child NeuropsychiatryUniversity of CataniaCatania 95124Italy

Autonomic nervous system dysfunction has been described with focal and generalized epileptic seizures;occurring during their ictal,interictal,or postictal states.International League Against Epilepsy Seizure Classification Manual defines autonomic seizures as a distinct alteration of autonomic nervous system function involving cardiovascular,pupillary,gastrointestinal,sudomotor,vasomotor,and thermoregulatory functions.Autonomic seizures represent a great challenge for neonatologists and neurophysiologists;and distinguishing between ictal and non-ictal autonomic changes in neonates is rarely straightforward,especially in the premature ones.To avoid overdiagnosis and overtreatment,International League Against Epilepsy and the American Clinical Neurophysiology Society currently require electrographic correlation for any seizure diagnosis,including preterm neonates.There is very little scientific evidence about the pathophysiology of autonomic seizures.The data reporting on their incidence,clinical features,and diagnostic pathway is also insufficient.In this paper,we hypothesize that in the developing brain of preterm neonates,seizures involving deeper autonomic networks and subcortical structures might not propagate sufficiently to the cortex,and therefore the association of the seizures with specific ictal electrographic changes on surface electroencephalogram might be lacking.We propose considering autonomic seizures in the differential diagnosis of unexplained autonomic changes in neonates,especially preterm neonates,even in the absence of clear initial electrographic correlation.Unexplained autonomic changes could therefore be thought of as a“seizure alarm”in this population.

关键词： Premature Apnea Autonomic seizures Brain Neonatal epilepsy Neonates

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Tubulointerstitial nephritis and uveitis syndrome post-COVID-19

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Pediatric Investigation 2023年第1期7卷 57-59页

作者： Maria Cristina Maggio Filippo Collura Maria Michela D’Alessandro Barbara Gramaglia giovanni corsello University Department PROMISE"G.D’Alessandro University of Palermo-Children Hospital"G.Di Cristina"A.R.N.A.S.PalermoItaly U.O.C.of Paediatric Nephrology Children Hospital"G.Di Cristina"A.R.N.A.S.PalermoItaly

To the editor:The angiotensin-converting-enzyme-2(ACE2)receptor is expressed in many extrapulmonary organs:eyes(conjunctival,corneal,and limbal epithelial cell,retina),nerves,vessels,small intestine enterocytes,kidney... 详细信息

关键词： ACE2 intestine organs

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A C1-inhibitor rare mutation: Early diagnosis of hereditary angioedema in a paediatric patient

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Open Journal of Pediatrics 2013年第1期3卷 42-44页

作者： Maria Cristina Maggio Piero Sammarco Carmelo Fabiano giovanni corsello Department of Health Motherhood and Childhood Advancement Sciences University of Palermo Palermo Italy Operative Unit of Molecular Genetic Laboratory Ospedali Riuniti Villa Sofia-Cervello Palermo Italy

Hereditary angioedema secondary to C1-inhibitor deficiency is a rare autosomal dominant disorder characterized by a deficiency of C1 esterase inhibitor.An eight-year-old girl showed periorbital painless swelling, diagnosed as ethmoiditis. A craniofacial scan did not evidence a paranasal sinus involvement, C1INH levels were undetectable, with low C4 levels: 7.6 mg/dl and C1INH: <8.46 mg/dl. The genetic study identified a rare mutation of the C1INH gene. This clinical report is of relieve because paediatric cases described in literature are rare, did not presented a positive family history, and received a diagnosis after many attacks. Furthermore our girl received a prompt diagnosis of HAE at the first attack of angioedema.

关键词： Hereditary Angioedema C1-Inhibitor Deficiency

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