Idiopathic intracranial hypertension in a paediatric population: a retrospective observational study on epidemiology, symptoms and treatment.

Idiopathic intracranial hypertension (IIH) is a disorder of unknown origin, which is characterized by elevated intracranial pressure (ICP) without underlying etiological evidence of neurological disease. The purpose of the current study was to evaluate epidemiological features, clinical presentation, diagnostic findings and treatment of sixteen children (7 males and 9 females) with IIH. Medical records of the patients were obtained from the University Paediatric Hospital of Catania, Italy. Clinical features, investigations and treatment approaches were retrieved. The mean age of the sixteen children at onset of symptoms was 9 years (range: 4 to 16 years). Most of the patients were classified as pre-pubertal. Mean BMI was 28.9 kg/m2. In 93.75% of patients headache was the presenting clinical symptom; and in the same percentage papilledema was detected as the accompanied sign during diagnostic flow-chart. The mean lumbar puncture opening pressure (LPOP) was 350 mm H2O. Fifty percent of the cases had normal brain imaging, while 12.5% showed enlarged optic nerve diameter and one patient had an intraocular protrusion of the optic nerve on MRI. Two patients (12.5%) had venous sinus stenosis, and one case showed an abnormal spinal MRI. With regard to therapeutic approaches, 93.75% of the cases were successfully treated with Acetazolamide. None of the patients required surgical procedures, and all neuroimaging findings disappeared after receiving treatment. In the present study we investigated the association of IIH with venous sinus stenosis. We also found ocular ultrasound to be a useful non-invasive alternative method for determining papilledema in paediatric IIH, specifically in an emergency.

Headache, migraine and obesity: an overview on plausible links.

Headache can represent different disorders with different etiologies; including cardiac, cerebral, vascular, psychiatric, metabolic, neurologic diseases. Recent studies have highlighted that obesity is significantly associated with headache and disability in adults. This rule also applies to children. This review focuses on literature data studying any eventual relationship between headache, migraine and obesity [shown in Body Mass Index (BMI)] in children. Research data have highlighted that there is a relationship between headache physiopathology and central and peripheral mechanisms responsible for food assumption. In this regard, neurotransmitters such as serotonin, and peptides such as orexin and adipocytokines (adiponectin and leptin) seem to play a key role both in food assumption and in headache pathogenesis. These data further emphasize the potential association between headache and BMI. Therefore, those therapeutic strategies aiming to decrease BMI may represent a model of useful treatment to understand whether weight loss reduces the incidence and the severity of headache in obese children. In conclusion, considering the effects of obesity and weight loss on the natural history of headache, important changes are expected in therapeutic management of paediatric headaches.

Congenital muscular dystrophy and epilepsy: a prospective case series of pediatric patients.

Congenital Muscular Dystrophies (CMDs) can be considered as a heterogeneous group of diseases characterized by marked weakness, generalized hypotonia and joint contractures. They are divided into pure and classical forms, without ocular and cerebral involvement, and complex forms, which are associated with cerebral abnormalities. Seizures have rarely been described in the pure forms while they seem to occur more frequently in complex forms. The aim of our study was to evaluate the incidence of seizure in CMD. Herein, the authors describe 16 cases of congenital muscular dystrophy (CMD) associated with different kinds of epileptic events, in order to study the pathogenic connection between the two clinical manifestations. In all described patients we reviewed the clinical, neurophysiologic, and neuroimaging data to determine any associations with epilepsy. The patients were divided into two groups: 14 cases with merosin positive CMD in one group and 2 patients with Walker Warburg syndrome (WWS) in the second group. In our study we found that in the first group, one benign myoclonic epilepsy (BME), one benign febrile convulsions had occurred. Also in one patient, the EEG revealed a moderately high voltage slow background with diffuse sharp waves reaching 300mV in amplitude with no clinical signs. In the merosin positive CMD patients, the presence of two different epileptic diseases, benign myoclonic epilepsy (BME) in one and febrile convulsion with tonic clinic seizures, may represent a new expression of merosine-positive congenital muscular disease (PCMD) in which the deficiency of an undiscovered muscular protein with a cerebral isoform may be the cause of epileptic events in this group of patients.

Efficacy and safety of omalizumab in paediatric age: an update of literature data.

Immunoglobulin E (IgE) was discovered in 1966 and was found responsible for immune defense against helminths, type I hypersensitivity and allergic diseases. IgE mediates allergic responses by binding to Fc receptors (the high affinity Fc-epsilon receptor I and the low affinity Fc-epsilon receptor II or CD23) expressed on tissue mast cells and blood basophils. This binding leads to degranulation and release of pro-inflammatory mediators. Considering the pivotal role of IgE in allergic diseases, antibodies against IgE potentiate an array of new therapeutic strategies and in this regard omalizumab (rhuMAb-E25, Xolair) has been developed as a monoclonal biologic drug to block serum IgEs. Although the use of omalizumab has been studied vigorously in many adult populations with allergic diseases, there are few heterogenous studies on children. There are very few ongoing clinical trials with omalizumab exclusively on children, although some adult studies have concluded pediatric patients as a part of their studies. Nevertheless, in pediatric clinical trials omalizumab has been demonstrated to be effective and safe also in this age group. Herein, the authors present a systematic review of extensive literature data on the use of omalizumab in children and adolescents.

Parasympathetic nervous system involvement in food allergy: description of a paediatric case.

The latest research data emphasize the interaction between the nervous and the immune systems. It has been demonstrated that the central nervous system (CNS) can be involved secondarily due to blood brain barrier (BBB) disruption via pro-inflammatory cytokines released in allergy. More recently it was demonstrated that the parasympathetic nervous system (PNS) could also be equally involved in models of peripheral inflammation such as food allergy; although this last clinical presentation has rarely been described. Herein, the authors report the case of a five-year-old Caucasian female who was admitted to our Pediatric Acute and Emergency Operative Unit for cyclic vomiting. Her vomiting, which was preceded by objective torque vertigo, headache and weakness, had been recurring with constant frequency every two months since she was 3 years old. After a complex diagnostic flow-chart, it was found that this spectrum of neurologic symptoms was due to a food allergy syndrome, which postulates some etiopathogenic hypotheses to explain the relationship between the two mentioned diseases.

Legumes steam allergy in childhood: Update of the reported cases.

In the past few decades, the prevalence of allergic diseases has deeply increased, with a key role played by food allergies. Legumes seem to play a major role towards the overall increase in the scenario of food allergy, since they are an appreciated source, consumed worldwide, due to their high protein content, variable amounts of lipids and for the presence of vitamins. In literature there are numerous descriptions of adverse reactions after ingestion of uncooked and cooked legumes. Nevertheless, cases of allergic reactions induced by inhaling vapours from cooking legumes have rarely been described. Herein the authors report an update of the literature data on allergic reactions caused by legume steam inhalation, underlying the possible pathogenic mechanism of these atopic events and the knowledge of literature data in paediatric age. The importance of this review is the focus on the clinical aspects concerning legume vapour allergy, referring to literature data in childhood.

Pediatric autoimmune neuropsychiatric disorder associated with group a streptococcal infection: the role of surgical treatment.

Pediatric Autoimmune Neuropsychiatric Disorders Associated with Streptococcus (PANDAS) is a well-defined syndrome in which tics (motor and/or vocal) and/or obsessive compulsive disorders (OCD) consistently exacerbate in temporal correlation to a Group A beta-haemolytic streptococcal infection. In children with PANDAS, there is speculation about whether tonsillectomy or adenotonsillectomy might improve the neuropsychiatric course. Our objective was to examine whether such surgery impacted remission or, in patients without remission, modified clinical course of the disease, streptococcal antibody titers, neuronal antibodies or clinical severity of Obsessive-Compulsive Disorder (OCD) and/or tics. Study participants (n = 120) with positive PANDAS criteria were recruited, examined, and divided into surgical or non-surgery groups. The surgical group consisted of children with tonsillectomy or adenotonsillectomy (n=56). The remaining children were categorized as non-surgery (n=64). Clinical follow-up was made every 2 months for more than 2 years. Surgery did not affect symptomatology progression, streptococcal and neuronal antibodies, or the clinical severity of neuropsychiatric symptoms in these children. In conclusion, in our series clinical progression, antibody production, and neuropsychiatric symptom severity did not differ on the basis of surgical status. We cannot uphold surgical management as likely to impact positive remission rates, course of OCD/tics, or antibody concentrations in children with PANDAS.

Respiratory failure and pharyngeal hematoma as presenting signs of Moschcowitz's syndrome: a case report and literature review.

Moschcowitz's syndrome or thrombotic thrombocytopenic purpura is a quite rare pathology in childhood, being, as a matter of fact, more frequent among adult people. Often it is hard to distinguish from other pathologies in children both for its rare incidence and for the presence of clinical forms that are very heterogeneous and difficult to be classified. We report on a 13 year-old girl suffering from Moschcowitz's syndrome, in whom respiratory failure and pharyngeal hematoma were the first sign of the disease follone by jaundice, hematoma of the arm and limbs. The girl was treated with plasmapheresis with an improvement of her general condition. Since then we have followed up the girl for two years without any reappearance of the symptomatology. To our knowledge this is the first report of this peculiar presentation in children.

Otorrhea in Kawasaki disease diagnosis complicated by an EBV infection: coincidental disease or a true association.

The Authors report on two children affected by Kawasaki disease (KD). The diagnosis of KD was made after exclusion of conditions with similar presentation. At admission these children (cases 1 and 2) presented fever, purulent caseous pharyngotonsillitis, and cervical bilateral lymphadenopathy, as well as an erythematous non-vesicular rash over the face and trunk, and a mild bilateral non-exudative conjunctivitis in case 1. After respectively three and two days corticosteroid therapy was started without any significant improvement of the general condition and any diminutions of the fever. Two days later in case 1 the child presented a clear otorrhea, a cutaneous non vesicular rash, and soon after all the remaining signs of Kawasaki disease, in case 2 otorrhea was found after 4 days and then the other signs of the KD. These patients were treated with intravenous immunoglobulin (2 g/kg day), with an improvement of their general condition. To our knowledge we report the first cases of otorrhea in the setting of Kawasaki disease. We cannot exclude that the presence of Kawasaki disease in the context of otorrhea in children positive for Epstein-Barr virus (EBV) is merely coincidental. Besides, recent acquisitions show that KD is due to a new virus that could cross-react with the EBV. The Authors conclude that the presence of EBV infection or similar condition in a febrile child may not exclude Kawasaki disease and a differential diagnosis has to be performed for a timely commencement of intravenous immunoglobulin therapy.  

Primary headaches in children: clinical findings on the association with other conditions.

The aim of the present study is to report on the frequency of some comorbidities in primary headaches in childhood. Two hundred and eighty children (175 males and 105 females; ratio 1.7:1), aged 4 to 14 years, affected by primary headaches were consecutively enrolled in this study. In direct interviews, parents and children gave information about the association of their headaches with different conditions including asthma and allergic disorders, convulsive episodes, sleep disorders and increased body weight, affections some time associated in the literature to headache as comorbidities . In addition, anxiety and depression, attention deficit/hyperactivity disorder, tics, learning disabilities and obsessive-compulsive disorders, using psycho-diagnostic scales were evaluated. Two hundred and eighty children matched for age, sex, race and socio-economic status, were used as controls. No significant association of primary headaches was found with asthma and allergic disorders, convulsive episodes, sleep disorders and increased body weight. Overall behavioral disorders were more common in children who experienced headache than in controls. A significant association of primary headache was found with anxiety and depression (p value < 0.001), but not with the other psychiatric disorders. Primary headaches in children are not associated with most of the psychiatric and systemic conditions herein investigated. On the contrary, there was a significant association with anxiety and depression, as frequently reported in adults.

Acquired peripheral neuropathy: a report on 20 children.

Guillain-Barré syndrome (GBS) is an inflammatory polyneuropathy characterized by acute onset, rapid progression, symmetric muscular weakness, pain, and paresthesias. The incidence of GBS in the pediatric age group is 0.8 cases per 100,000; 50%-70% of the cases are preceded by respiratory or gastrointestinal infectious episodes or vaccination. The etiopathogenesis of GBS has been hypothesized to involve a direct immune-mediated mechanism against the peripheral nerves. A series of 20 patients managed in the Department of Pediatrics of the University of Catania between 2003 and 2011 and evaluated according to epidemiologic, clinical, and therapeutic features is reported.

Acute asthma in children: treatment in emergency.

BACKGROUND AND OBJECTIVE: Asthma is one of the most common chronic diseases, leading to an increased rate of hospitalization. MATERIAL AND METHODS: The aim of this report is to review the current concepts and treatment of asthmatic children, focusing our attention on the treatment of children in a Department of Pediatric Emergency. DISCUSSION: Frequent respiratory infections, personal or familial allergy, disease severity and young age are important factors leading to hospitalization. However, regular clinical follow-up and use of inhaled corticosteroids, the IgE levels and O2 saturation may reduce the probability of hospitalization during asthma attacks. The diagnosis of asthma in children is based on recognizing a characteristic pattern of episodic respiratory symptoms and signs, in the absence of an alternative explanation for them. The presence of these factors increases the probability that a child with respiratory symptoms will have asthma. These factors include age at presentation; sex; severity and frequency of previous wheezing episodes; coexistence of atopic disease; family history of atopy; and abnormal lung function. CONCLUSION: Asthma is a chronic condition that often remains uncontrolled for reasons that may be related to the disease process itself, the management decisions of clinicians, the patient's perceptions of disease control or self-management behaviors, the cost of medications, or a combination of all of these factors. To this end, patients with asthma should be educated not to accept a certain level of symptoms or activity limitations as an inevitable consequence of asthma. Both the levels of current impairment and the future risks (of asthma exacerbations or adverse medication effects) should be used to inform decisions about appropriate levels of asthma therapy, and physicians should be aware of the new medication recommendations.

Primary headache in childhood associated with psychiatric disturbances: an update.

OBJECTIVE: Primary headache disorders in children are one of the most prominent topics in the pediatric neurology literature. However, there are many unsolved aspects, including the conditions associated with migraine. The present study aims to report on the frequency of behavioral comorbidities in the setting of primary headache in childhood. PATIENTS AND METHODS: In this study, we enlisted 475 children (290 males and 185 females; ratio 1.6:1), aged 4 to 14 years, who were affected by primary headache. In direct interviews, children and parents gave information on the association of their headache with, attention-deficit/hyperactivity disorder, learning disabilities, tics, anxiety, depression, and obsessive-compulsive disorder. Other 475 children with no history of headache or recognized neurological conditions were matched for age, sex, race, and socioeconomic status and were used as controls. RESULTS: A significant association of primary headache was found with anxiety and depression (p-value <0.001); overall, behavioral disorders were more common in children who experienced headache than in controls (p-value <0.001). CONCLUSIONS: Primary headache in children is not associated with most of the common behavioral conditions. On the contrary, there was a significant association with anxiety and depression, as reported in adults.

ENT involvement and orobuccal movements' disorders in Pandas patients: assessment and rehabilitations tools.

OBJECTIVE: PANDAS are known as the spectrum of autoimmune pathologies related to a previous or current infection by group A beta-hemolytic streptococcus (SBEGA), dealing with several neuropsychiatric manifestations that mainly affect pediatric age. The main features consist of behavioral disease or movement disease characterized by acute-onset, presenting especially through infant period or adolescence. Specific manifestations, occurring during the progression of the disease, are the presence of otorhinolaryngologic symptoms (ENT) and orofacial movement disorders associated with temporomandibular joint pain. PATIENTS AND METHODS: We enrolled 130 children (5-15 years) with a clinical diagnosis of PANDAS between 2012 and 2018. Participants were assessed using ENT specific parameters, PSG to examine respiratory disorders and conventional audiological evaluation. Descriptive and comparative statistical analyses were performed with a control group of 51 healthy patients. RESULTS: The prevalence of ENT symptoms associated was significantly detected in 88 patients of 130 in Group A (relative frequency (%) 67.6; p=0.041) and in 51 patients of 130 in the control Group B (relative frequency (%) 39.2; p=0.063). In relation to prevalence of SDB, 54 subjects have presented nocturnal respiratory obstructive symptoms from mild to severe (relative frequency (%) 61.3; p=0.033) vs. 20 patients of Group B (relative frequency (%) 39.2; p=0.055). The obstructive severity average type was correlated to the consensual adenotonsillar development (size 3-4), (relative frequency (%) 45.4; p=0.047). The audiological deficits found were mostly of transmissive type with OME correlated and linked to the presence of occasional episodes of AOM. The four PANDAS patients who presented orobuccal dystonia (relative frequency (%) 4.54; p=0.091) achieved an improvement of the algic symptoms through the exercises of self-rehabilitation. CONCLUSIONS: Findings from our study show that respiratory diseases, characterizing a group of patients with pandas, are the direct consequences of the malformed or hypertrophic condition and suggesting in these conditions surgical therapy as an approaching tool.

No evidence of major transcriptional changes in the brain of mice exposed to 1800 MHz GSM signal.

To analyze possible effects of microwaves on gene expression, mice were exposed to global system for mobile communication (GSM) 1800 MHz signal for 1 h at a whole body SAR of 1.1 W/kg. Gene expression was studied in the whole brain, where the average SAR was 0.2 W/kg, by expression microarrays containing over 22,600 probe sets. Comparison of data from sham and exposed animals showed no significant difference in gene expression modulation. However, when less stringent constraints were adopted to analyze microarray results, 75 genes were found to be modulated following exposure. Forty-two probes showed fold changes ranging from 1.5 to 2.8, whereas 33 were down-regulated from 0.67- to 0.29-fold changes, but these differences in gene expression were not confirmed by real-time PCR. Under these specific limited conditions, no consistent indication of gene expression modulation in whole mouse brain was found associated to GSM 1800 MHz exposure.

Ptosis in childhood: A clinical sign of several disorders: Case series reports and literature review.

Blepharoptosis (ptosis) is a common but often overlooked sign that may serve as a sign/manifestation of other conditions, ranging from a mild and purely cosmetic presentation to a severe and occasionally progressive disorder. Ptosis may show an acute onset or may manifest as a chronic disorder. Its presentation may vary: unilateral versus bilateral, progressive versus non-progressive, isolated versus complex which occurs in association with other symptoms, and congenital versus acquired (often concomitant with neuromuscular disorders).Congenital ptosis includes the isolated type-the congenital cranial dysinnervation disorders, which are further, distinguished into different subtypes such as Horner syndrome (HS), and ptosis as a sign/manifestation of various congenital malformation syndromes.In this article, we review the primary causes of ptosis occurring in childhood, and its various clinical presentations, including a short report on selected cases observed in our institution: a classical isolated familial ptosis comprising 14 members over 5 generations, 3 sibling with isolated congenital ptosis who in addition suffered by episodes of febrile seizures, a patient with Duane retraction syndrome who presented congenital skin and hair anomalies, and a girl with HS who showed a history of congenital imperforate hymen. A flowchart outlining the congenital and acquired type of ptosis and the clinical approach to the management and treatment of children with this anomaly is reported.

Pacemaker and ICD oversensing induced by movements near the MRI scanner bore.

PURPOSE: The effect of the movement near the MRI scanner bore for people with a pacemaker (PM) or an implantable cardioverter defibrillator (ICD) is experimentally evaluated and discussed. METHODS: The authors performed in vitro measurements on a saline-filled human-shaped phantom (male, 170 cm height), equipped first with an MR-conditional PM (bicameral configuration, DDD programming), then with an MR-conditional ICD (biventricular configuration, detection algorithms enable but shock delivery disable). Both the devices were able to transmit in real-time the detected cardiac activity (electrograms) while moving the phantom around the MRI scanner. The phantom was also equipped with an accelerometer and a magnetic field probe to measure the angular velocity and the magnetic field variation during the experiment. Unipolar versus bipolar sensing mode and maximum sensitivity versus nominal settings were tested. RESULTS: The sensing functions of the PM and ICD systems began to react to motion induced electromagnetic interference starting at an angular velocity as low as 2 rad/s (|dB/dT| = 2 T/s). The motion induced EMI in PM and ICD systems was interpreted as sensed intrinsic heartbeats which resulted in inappropriate pacing inhibition and arrhythmia classification. At the maximum speed of about 6 rad/s (|dB/dT| = 3 T/s), the induced EMI affected classification of ectopic beats and two episodes of VF were inappropriately recorded. CONCLUSIONS: These results demonstrate that motion in and around an MR scanner can induce EMI significant enough to be misinterpreted by implanted PMs and ICDs leading to inappropriate changes in therapy. These findings highlight that PM or ICDs, including MR-conditional systems should not enter the MRI room, except in case of an examination under specified conditions.

Congenital muscular dystrophy with adducted thumbs, ptosis, external ophthalmoplegia, mental retardation and cerebellar hypoplasia: a novel form of CMD.

At least six different forms of congenital muscular dystrophy are associated with structural changes of the central nervous system, and three of these have been mapped: merosin-deficient congenital muscular dystrophy on chromosome 6q2, Fukuyama congenital muscular dystrophy on chromosome 9q31, and muscle eye brain disease on chromosome 1p32. Walker-Warburg syndrome, congenital muscular dystrophy with calf hypertrophy, pontocerebellar hypoplasia, and normal eyes, and congenital muscular dystrophy with severe mental retardation and cerebellar cysts are nosologically distinct and have been excluded from the known congenital muscular dystrophy loci with structural changes of the central nervous system. Here, we describe a novel congenital muscular dystrophy syndrome which is phenotypically distinct from the recognized forms of congenital muscular dystrophy with brain involvement. Two siblings, a boy and a girl, were born to consanguineous parents from Sicily. Both children were born with adducted thumbs and toe contractures. They were floppy from birth, walked late, showed profound generalized muscle weakness including facial muscles, elevated creatine kinase levels of 200-700U/l, and histological changes compatible with muscular dystrophy. In addition, both showed ptosis, external ophthalmoplegia, mild mental retardation, and mild cerebellar hypoplasia on MRI. Immunocytochemistry showed normal expression of muscle membrane proteins including laminin alpha 2, laminin beta 2, and alpha-dystroglycan. Linkage analysis excluded the candidate loci on chromosomes 6q2, 9q31, and 1q32. The gene locus for congenital muscular dystrophy 1B, MDC 1B, on chromosome 1q42 was also excluded. Adducted thumbs are a distinct clinical sign that has not been reported in congenital muscular dystrophy before and should facilitate recognition of further patients with this disorder.