Food protein induced enterocolitis syndrome caused by rice beverage

Food protein-induced enterocolitis syndrome (FPIES) is an uncommon and potentially severe non IgE-mediated gastrointestinal food allergy. It is usually caused by cow’s milk or soy proteins, but may also be triggered by ingestion of solid foods. The diagnosis is made on the basis of clinical history and symptoms. Management of acute phase requires fluid resuscitation and intravenous steroids administration, but avoidance of offending foods is the only effective therapeutic option. Infant with FPIES presented to our emergency department with vomiting, watery stools, hypothension and metabolic acidosis after ingestion of rice beverage. Intravenous fluids and steroids were administered with good clinical response. Subsequently, a double blind placebo control food challenge (DBPCFC) was performed using rice beverage and hydrolyzed formula (eHF) as placebo. The “rice based formula” induced emesis, diarrhoea and lethargy. Laboratory investigations reveal an increase of absolute count of neutrophils and the presence of faecal eosinophils. The patient was treated with both intravenous hydration and steroids. According to Powell criteria, oral food challenge was considered positive and diagnosis of FPIES induced by rice beverage was made. Patient was discharged at home with the indication to avoid rice and any rice beverage as well as to reintroduce hydrolyzed formula. A case of FPIES induced by rice beverage has never been reported. The present case clearly shows that also beverage containing rice proteins can be responsible of FPIES. For this reason, the use of rice beverage as cow’s milk substitute for the treatment of non IgE-mediated food allergy should be avoided

Hypoceruloplasminemia: an unusual biochemical finding in a girl with Hashimoto's thyroiditis and severe hypothyroidism

Clinical picture of Hashimoto's thyroiditis (HT) may significantly vary in pediatric age, ranging from euthyroidism to subclinical hypothyroidism or hyperthyroidism; only rarely HT presentation may be characterized by a severe hypothyroidism also in pediatric age. Here we describe a 3-year-old Caucasian girl who was admitted to our Clinic due to pericardial effusion, muscle weakness and weight gain. At clinical examination, she presented with bradycardia, pale and round face, pseudohypertrophy of calf muscles and no pitting edema of the limbs. Routine blood investigations showed high serum aspartate and alanine aminotransferase levels, low serum ceruloplasmin without clinical signs of Wilson's disease, dyslipidemia. Thyroid function tests revealed a picture of severe hypothyroidism associated with HT. After the replacement treatment with L-T4, thyroid-stimulating hormone serum levels gradually decreased, with concomitant resolution of pericardial effusion and normalization of ceruloplasmin levels

Asthma: Differential Diagnosis and Comorbidities

Childhood asthma remains a multifactorial disease with heterogeneous clinical phenotype and complex genetic inheritance. The primary aim of asthma management is to achieve control of symptoms, in order to reduce the risk of future exacerbations and progressive loss of lung function, which results especially challenging in patients with difficult asthma. When asthma does not respond to maintenance treatment, firstly, the correct diagnosis needs to be confirmed and other diagnosis, such as cystic fibrosis, primary ciliary dyskinesia, immunodeficiency conditions or airway and vascular malformations need to be excluded. If control remains poor after diagnostic confirmation, detailed assessments of the reasons for asthma being difficult-to-control are needed. Moreover, all possible risk factors or comorbidities (gastroesophageal reflux, rhinosinusitis, dysfunctional breathing and/or vocal cord dysfunction, obstructive sleep apnea and obesity) should be investigated. At the same time, the possible reasons for poor symptom control need to be find in all modifiable factors which need to be carefully assessed. Non-adherence to medication or inadequate inhalation technique, persistent environmental exposures and psychosocial factors are, currently, recognized as the more common modifiable factors. Based on these premises, investigation and management of asthma require specialist multidisciplinary expertise and a systematic approach to characterizing patients' asthma phenotypes and delivering individualized care. Moreover, since early wheezers are at higher risk of developing asthma, we speculate that precocious interventions aimed at early diagnosis and prevention of modifiable factors might affect the age at onset of wheezing, reduce the prevalence of persistent later asthma and determine long term benefits for lung health

Pediatric Gastric Volvulus: Diagnostic and Clinical Approach

Gastric volvulus is a significant, rare cause of non-bilious vomiting and consists of a pathological rotation of the stomach of more than 180° around the axis without obstruction of the gastrointestinal tract. A definitive diagnosis is made with upper radiological gastrointestinal studies. Treatment may be conservative or surgical with anterior and fundal gastropexy in patients with ingravescent symptoms. We describe the case of a 16-month-old female admitted to our hospital for recurrent and postprandial vomiting episodes which had started at 11 months of age. A history of gastroesophageal reflux was present until 1 year of age, in association with recurrent respiratory infections. The basic metabolic panel was normal. Barium study showed stomach rotation along a horizontal plane stomach. Esophagogastroduodenoscopy showed no mucosal alterations. The diagnosis was chronic organoaxial gastric volvulus. In our patient, the surgical procedure of gastropexy, both anterior and fundal, without fundoplication was performed. She showed good improvement after surgery, with resolution of symptoms and weight gain

Bronchiolitis guidelines: what about the Italian situation in a primary care setting?

Abstract Acute viral bronchiolitis is the most common cause of hospitalization in children under 12 months of age. The variable clinical presentation and the potential for sudden deterioration of the clinical conditions require a close monitoring by healthcare professionals. In Italy, first access care for children is provided by primary care physicians (PCPs) who often must face to a heterogeneous disease presentation that, in some cases, make the management of patient with bronchiolitis challenging. Consequently, Italian studies report poor adherence to national and international guidelines processed to guide the clinicians in decision making in acute viral bronchiolitis. This paper aims to identify the potential factors contributing to the lack of adherence to the suggested guidelines derived by clear and evidence-based recommendations among primary care physicians operating in an outpatient setting, with a specific focus on the context of Italy. Particularly, we focus on the prescription of medications such as β2-agonists, systemic steroids, and antibiotics which are commonly prescribed by PCPs to address conditions that can mimic bronchiolitis

Difficult and Severe Asthma in Children

Asthma is the most frequent chronic inflammatory disease of the lower airways affecting children, and it can still be considered a challenge for pediatricians. Although most asthmatic patients are symptom-free with standard treatments, a small percentage of them suffer from uncontrolled persistent asthma. In these children, a multidisciplinary systematic assessment, including comorbidities, treatment-related issues, environmental exposures, and psychosocial factors is needed. The identification of modifiable factors is important to differentiate children with difficult asthma from those with true severe therapy-resistant asthma. Early intervention on modifiable factors for children with difficult asthma allows for better control of asthma without the need for invasive investigation and further escalation of treatment. Otherwise, addressing a correct diagnosis of true severe therapy-resistant asthma avoids diagnostic and therapeutic delays, allowing patients to benefit from using new and advanced biological therapies

Pleural effusion from intrathoracic migration of a ventriculo-peritoneal shunt catheter: pediatric case report and review of the literature

Abstract Background Pleural effusion is a rare complication of ventriculo-peritoneal (VP) cerebrospinal fluid (CSF) shunting and its diagnosis is difficult in patients with neurological and consciousness impairment. Case report Herein we report the case of a child affected by Pfeiffer syndrome and hydrocephalus, shunted at the age of 3 months, who developed acute respiratory failure due to a right-sided pleural effusion 2 years later. Plain chest radiographs and computed tomography (CT) showed the intrathoracic migration of the right VP shunt abdominal tip. Beta-2 transferrin, a marker for CSF, was found in the pleural fluid and the hypothesis of a CSF hydrothorax was confirmed. Effusion was treated with a thoracentesis. Seven days after, the right VP shunt was revised; a ventriculo-atrial (VA) shunt was also placed on the left side to serve as the main CSF shunt and to prevent the recurrence of hydrothorax. We review the pediatric cases of CSF hydrothorax reported in the literature and discuss the mechanisms underlying this complication together with the possible treatments. Conclusion Pleural effusion due to VP shunt insertion is a rare and potentially life-threatening condition that should be suspected in any patient with a VP shunt and respiratory failure. Signs of hydrothorax may moreover represent the only clinical evidence of a shunt-related complication in case of neurologically severely compromised patients in which neurologic examination cannot help to make a diagnosis

Two novel mutations in exon 3 of PHOX2B gene: think about congenital central hypoventilation syndrome in patients with Hirschsprung disease

Abstract Background Congenital central hypoventilation syndrome (CCHS) is characterized by alveolar hypoventilation increasing during sleep and affected patients are unable to perceive and respond to hypercarbia with increased ventilation and arousal during sleep. PHOX2B gene mutations are considered as responsible for CCHS. Most of patients with CCHS are heterozygous for polyalanine expansion mutations (PARMs) in exon 3, but 10% of patients with classic CCHS are heterozygous for non-polyalanine expansion mutations (NPARMs) of the PHOX2B gene. Methods Data are collected on 3 patients affected by CCHS who referred to the Paediatric Pulmonology Unit of Bambino Gesù Children’s Hospital (Rome, Italy) for a multidisciplinary follow-up program between 2000 and 2017. Results We describe three cases of patients affected by CCHS for which two novel mutations on exon 3 of PHOX2B gene were detected. Conclusions The description of these novel mutations and related clinical phenotypes allows to expand the knowledge into NPARM spectrum. Since the presence of Hirschsprung disease is related to NPARMs and the number of alanine repeats, we suggest performing CCHS genetic investigation and periodical assessment also in patients without a clear history of CCHS but affected by Hirschsprung disease. Trial registration Data are retrospectively collected

Additional file 1: of Pleural effusion from intrathoracic migration of a ventriculo-peritoneal shunt catheter: pediatric case report and review of the literature

Timeline. (DOCX 28 kb