-
[show abstract]
[hide abstract]
ABSTRACT: Central nervous system vasculitides in children may develop as a primary condition or secondary to an underlying systemic disease. Many vasculitides affect both adults and children, while some others occur almost exclusively in childhood. Patients usually present with systemic symptoms with single or multiorgan dysfunction. The involvement of central nervous system in childhood is not frequent and it occurs more often as a feature of subtypes like childhood polyarteritis nodosa, Kawasaki disease, Henoch Schönlein purpura, and Bechet disease. Primary angiitis of the central nervous system of childhood is a reversible cause of severe neurological impairment, including acute ischemic stroke, intractable seizures, and cognitive decline. The first line therapy of CNS vasculitides is mainly based on corticosteroids and immunosuppressor drugs. Other strategies include plasmapheresis, immunoglobulins, and biologic drugs. This paper discusses on current understanding of most frequent primary and secondary central nervous system vasculitides in children including a tailored-diagnostic approach and new evidence regarding treatment.
Clinical and Developmental Immunology 01/2012; 2012:698327. · 1.84 Impact Factor
-
American Journal of Medical Genetics Part A 07/2011; 155A(7):1768; author reply 1769. · 2.39 Impact Factor
-
[show abstract]
[hide abstract]
ABSTRACT: We describe a six-month-old girl with microcephaly, developmental delay, truncal hypotonia, left pyramidal signs, partial seizures and myoclonic spasms, born to a feverish mother. MRI showed bilateral vascular lesions in the territory of the middle cerebral arteries, prevalent in the right hemisphere, together with hypoplasia of the posterior part of the corpus callosum and Wallerian degeneration of the cerebral peduncle. There may be many reasons for these lesions. In the reported patient the presence of maternal hyperthermia could have exacerbated cerebral thromboembolic occlusion.
Medical Hypotheses 05/2011; 77(2):250-2. · 1.39 Impact Factor
-
[show abstract]
[hide abstract]
ABSTRACT: Antibodies to 2-glycoprotein I (anti-2GPI) have been associated with recurrent thrombosis and pregnancy morbidity. However, the prevalence of anti-2GPI in children suffering from cerebral and cerebellar infarction is unknown. We report on a 10-month-old boy who had an ischemic cerebellar stroke, secondary to antiphospholipid syndrome with high titers of immunoglobulin G anti-2GPI (first titer: 132U) anticardiolipin antibodies and lupus anticoagulant tests were negative. All other causes of infarction were excluded. To our knowledge, this is the first reported case of childhood cerebellar ischemic stroke with only anti-2GPI but no antibodies detectable in standard antiphospholipid assays.
Medical Hypotheses 03/2011; 76(6):831-3. · 1.39 Impact Factor
-
Alberto Spalice,
Martino Ruggieri,
Salvatore Grosso,
Alberto Verrotti,
Agata Polizzi,
Gaetano Magro,
Rosario Caltabiano,
Piero Pavone, Francesca Del Balzo,
Nunzio Platania,
Paola Iannetti
[show abstract]
[hide abstract]
ABSTRACT: Dysembryoplastic neuroepithelial tumors (DNETs) are benign intracortical masses that are typically observed in children and young adults and are classified as glioneuronal tumors (WHO grade I). Large and retrospective series of patients with DNETs have been reported, but prospective studies on pediatric cohorts of patients with DNETs have been lacking. In the present study, 13 children (8 boys, 5 girls; age 8-18 years) who had simple (n = 2) or complex (n = 11) partial seizures (seizure duration range, 2-4 years; mean, 1.5 years; mode, 1.2 years) were prospectively enrolled and monitored over 13 years. The DNETs were located in the frontal (n = 2), temporal (n = 9), or occipital (n = 2) cortex. In 11/13 cases, the seizures were resistant to drug therapy, and all the children had surgery consisting of extended lesionectomy coupled with neuronavigation. Pathology examination revealed cortical dysplasia (n = 8), glial nodules (n = 11), calcification (n = 4), cellular atypia (n = 3), endothelial proliferation (n = 1), perivascular inflammation (n = 3), and meningeal involvement (n = 6). All children were seizure free throughout postsurgical follow-up of 2-11 years. This first prospective study with follow-up monitoring of a childhood population with DNETs confirms, on a long-term basis, that the coupled strategy of extended lesionectomy and neuronavigation has good outcome for long-term seizure control.
Pediatric Neurology 12/2010; 43(6):395-402. · 1.52 Impact Factor
-
[show abstract]
[hide abstract]
ABSTRACT: Inflammatory demyelinating diseases comprise a spectrum of disorders affecting the myelin of the central and peripheral nervous system. These diseases can usually be differentiated on the basis of clinical, radiological, laboratory and pathological findings. Recent studies have contributed to current awareness that inflammatory demyelinating diseases are not restricted to the adult age group, but are more common in pediatric age than previously believed. Some of pediatric inflammatory demyelinating diseases carry an unfavorable long-term prognosis but appropriate treatments can improve the outcome. The possibility of physical and cognitive disability resulting from these diseases, highlights the urgent need for therapeutic strategies for neurorehabilitation, neuroregeneration, and neurorepair. This review discusses characteristics of primary demyelinating diseases more frequently observed in childhood, focusing on epidemiology, clinical aspects and treatments.
DNA research: an international journal for rapid publication of reports on genes and genomes 06/2010; 8(2):135-48. · 1.73 Impact Factor
-
[show abstract]
[hide abstract]
ABSTRACT: Chiari type I malformation (CMI) is a congenital hindbrain anomaly characterized by downward displacement of the cerebellar tonsils through the foramen magnum. Chiari type I malformation often presents with a complex clinical picture and can be sporadic or linked to a variety of genetic conditions. We report on a girl in whom Chiari type I malformation was associated with hypoglycemia, headache, vertigo, syncope and hepatic steatosis. We hypothesize that these symptoms are primarily a consequence of Chiari type I malformation.
Pediatric reports 01/2010; 2(1):e8.
-
Acta Paediatrica 10/2009; · 2.07 Impact Factor
-
[show abstract]
[hide abstract]
ABSTRACT: Stroke is relatively rare in children and the clinical presentation of paediatric stroke is often subtle. Numerous predisposing risk factors are known, and these can be both inherited and acquired. They include cardiac disease, vascular abnormalities, endothelial damage, infectious diseases, collagen tissue diseases, certain inborn errors of metabolism and anticardiolipin antibody, lupus anticoagulant and deficiencies of protein C, protein S, antithrombin or plasminogen. In addition, abnormal activated protein C resistance (or Factor V Leiden), Factor II G20219A variant, and the thermolabile variant of methylenetetrahydrofolate reductase (MTHFR C677T) need to be considered.
To explore the prevalence of different predisposing conditions in paediatric stroke patients, we evaluated 48 patients, including subjects with ischaemic and haemorrhagic stroke subtypes.
Only 7 out of 48 (14.5%) had no recognizable risk factors: the majority of paediatric stroke patients had pre-existing risk factors that predisposed to the condition. The major genetic risk factor in our series of patients was homozygosity for the MTHFR C677T mutation (7 out of 48 patients); three more patients were found to be heterozygous for the Factor V Leiden mutation. Acquired predisposing conditions were present in 23 out of 48 patients and included pulmunar stenosis, head trauma, hyperlipidaemia and varicella infection. A total of 17 patients had both genetic and acquired predisposing factors.
Our results emphasize that multiple predisposing risk factors commonly predispose to paediatric stroke. In addition, the primary clinical presentation appeared to differ between the older and younger children: hemiparesis was the typical presentation in children <1 year of age while seizure predominated in older children.
Acta Paediatrica 04/2009; 98(7):1130-6. · 2.07 Impact Factor
-
[show abstract]
[hide abstract]
ABSTRACT: Several cases with cerebral infarctions associated with the C677T mutation in the methylenetetrahydrofolate reductase gene (MTHFR) have been reported. Given the large number of asymptomatic individuals with the MTHFR mutation, additional risk factors for cerebral infarction should be considered. This study describes a large family with the MTHFR mutation and a combination of heterozygous factor V Leiden mutations and different additional exogenous and endogenous thrombogenic risk factors. Psychomotor retardation and a left fronto-insular infarct associated with the MTHFR mutation together with diminished factor VII and low level of protein C was documented in the first patient. In the second patient, generalized epilepsy and a malacic area in the right nucleus lenticularis was associated with the MTHFR mutation and a low level of protein C. In the third patient, right hemiparesis and a left fronto-temporal porencephalic cyst were documented, together with the MTHFR mutation and hyperhomocysteinemia. An extensive search of additional circumstantial and genetic thrombogenic risk factors should be useful for prophylaxis and prognosis of infants with cerebral infarctions associated with the MTHFR mutation and of their related family members.
Pediatric Neurology 02/2009; 40(1):63-7. · 1.52 Impact Factor
-
[show abstract]
[hide abstract]
ABSTRACT: Disorders of neuronal migration are a heterogeneous group of disorders of nervous system development. One of the most frequent disorders is lissencephaly, characterized by a paucity of normal gyri and sulci resulting in a 'smooth brain'. There are two pathologic subtypes: classical and cobblestone. Six different genes could be responsible for this entity (LIS1, DCX, TUBA1A, VLDLR, ARX, RELN), although co-delection of YWHAE gene with LIS1 could result in Miller-Dieker Syndrome. Heterotopia is defined as a cluster of normal neurons in abnormal locations, and divided into three main groups: periventricular nodular heterotopia, subcortical heterotopia and marginal glioneural heterotopia. Genetically, heterotopia is related to Filamin A (FLNA) or ADP-ribosylation factor guanine exchange factor 2 (ARFGEF2) genes mutations. Polymicrogyria is described as an augmentation of small circonvolutions separated by shallow enlarged sulci; bilateral frontoparietal form is characterized by bilateral, symmetric polymicrogyria in the frontoparietal regions. Bilateral perisylvian polymicrogyria results in a clinical syndrome manifested by mild mental retardation, epilepsy and pseudobulbar palsy. Gene mutations linked to this disorder are SRPX2, PAX6, TBR2, KIAA1279, RAB3GAP1 and COL18A1. Schizencephaly, consisting in a cleft of cerebral hemisphere connecting extra-axial subaracnoid spaces and ventricles, is another important disorder of neuronal migration whose clinical characteristics are extremely variable. EMX2 gene could be implicated in its genesis. Focal cortical dysplasia is characterized by three different types of altered cortical laminations, and represents one of most severe cause of epilepsy in children. TSC1 gene could play a role in its etiology. Conclusion: This review reports the main clinical, genetical and neuroradiological aspects of these disorders. It is hoped that accumulating data of the development mechanisms underlying the expanded network formation in the brain will lead to the development of therapeutic options for neuronal migration disorders.
Acta Paediatrica 01/2009; 98(3):421-33. · 2.07 Impact Factor
-
[show abstract]
[hide abstract]
ABSTRACT: Posterior circulation vascular occlusive disease in children is a rare and uncommonly reported event. Among the numerous risk factors, the methylenetetrahydrofolate reductase (MTHFR) mutation is considered to be a common genetic cause of thrombosis in adults and children. Recently, a link between the MTHFR mutation and cerebrovascular disorders was reported in children. Diffusion tensor imaging (DTI) is a great improvement on magnetic resonance imaging (MRI), making the in vivo anatomical and pathological study of the brain and its fibers possible. In our patient cerebellar infarction was associated with MTHFR mutation and, in a standard neurological examination, DTI revealed normal white matter tracts.
Pediatric reports 01/2009; 1(1):e4.
