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

Respiratory insufficiency in a newborn with congenital hypothyroidism due to a new mutation of TTF-1/NKX2.1 gene

NK2 homeobox-1 (NKX2.1) gene encoding the thyroid transcription factor-1 (TTF-1) plays a critical role in lung, thyroid, and central nervous system morphogenesis and function; mutations cause a rare form of progressive respiratory failure associated with alterations of surfactant synthesis, composition, and homeostasis. Molecular mechanisms are heterogeneous and poorly explored. A 28 days old male, soon after birth, presented respiratory failure requiring oxygen treatment at FiO2 27%, prolonged for 2 weeks. Routine neonatal screenings detected a high thyroid stimulating hormone concentration. On day 27 congenital hypothyroidism was confirmed and substitutive treatment was begun. Since the persistence of respiratory symptoms sweat test, CFTR mutation, lymphocyte subpopulations, and sputum cultures were tested, resulting negative. Brain and cardiac defects were also ruled out. Bronchoscopy and BAL analysis were normal. Computed tomography showed bilateral multiple ground glass attenuation, consolidative areas and diffuse bronchial wall thickening. Based on the severity of symptoms, the exclusion of other causes of respiratory disease and the CT findings of interstitial lung disease, we investigated genes affecting the surfactant homeostasis. Sequencing analysis of the three exons of the TTF1 revealed a heterozygous mutation c.334G > T that results in the replacement of glycine in position 112 with a stop codon, generating a nonsense protein that lacks the correct transactivation domain in the C-terminal region. Genetic analysis of the family showed that the father, who was asymptomatic, carried the mutation. Screening for TTF-1 deletions or mutations should always be considered in children with congenital hypothyroidism and an unexplained neonatal respiratory distress or neurodevelopmental deficits

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

A young girl with apparent treatment-resistant asthma treated at Bambino Gesù children's hospital

A 9.8 year–old-girl was first admitted in our unit for a persistent bronchospasm, poorly responsive to salbutamol, and progressive onset of respiratory distress after spontaneous expectoration of a bronchial cast (figure 1A). Her clinical history was uneventful until she was 7 years old, when she suffered from two subsequent bouts of pneumonia, but no admission was required. In the following years, she presented few episodes of bronchospasm, clinically diagnosed, with good response to bronchodilator and no limitation on her daily activities. Her family history was positive for allergic disease. On physical examination at her arrival, she appeared quite unwell with persistent wet cough, bilateral respiratory wheeze but normal levels of saturation. The remaining examination was normal.We have a previously healthy young girl with positive family history for allergies and personal history of few lower respiratory infections and intermittent episodes of wheezing. Patient's history and the spontaneous expectoration of a bronchial cast during an acute episode of bronchospasm, together with her physical examination characterised by intense cough and diffuse wheeze are suggestive of a case of plastic bronchitis (PB), already described as possible complication of allergic asthma. The differential diagnosis, though, should always include more inflammatory diseases of the lung, such as cystic fibrosis, pulmonary infections and acute chest syndrome in sickle-cell anaemia.1.Patient was afebrile; blood exams were normal, including: haemoglobin, c-reactive protein, immunoglobulins and lipid values. Allergy tests were positive to house dust mites and few pollen, but sweat tests and nasal brushing for ciliary dyskinesia were negative. Spirometry showed mainl

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

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Anaphylactic shock with methylprednisolone sodium succinate in a child with short bowel syndrome and cow’s milk allergy

Abstract Background Medications with methyl-prednisolone sodium succinate containing lactose, which potentially contains traces of cow’s milk proteins (CMP), could cause allergic reactions or compromise treatment of acute allergic reactions in sensitized patients. Case presentation We describe the unusual case of a one-year-old child affected by short bowel syndrome and history of severe cow’s milk allergy (CMA) and anaphylactic reaction due to intravenous administration of methyl-prednisolone sodium succinate (Solu-Medrol 40 mg, Pfizer). He was admitted to our hospital for severe respiratory failure and was initially treated with methyl-prednisolone (Urbason 40 mg, Sanofi Aventis), then with methyl-prednisolone sodium succinate (Solu-Medrol 40 mg, Pfizer). After the intravenous administration of second steroid, immediate anaphylaxis was recorded and treatment was stopped. Antihistamine and epinephrine were required and symptom resolution occurred. Conclusion Children who are highly sensitive to milk may have severe allergic reactions also after exposure to CMP through a different administration route than the oral one. Patients who have food allergies need to pay particular attention to the prescription of drugs and their formulation

Sleep architecture in children with spinal muscular atrophy type 2

There have been few published reports on the sleep patterns of patients with spinal muscular atrophy (SMA) type 2, and none on sleep microstructure. The aim of this study was to analyze sleep architecture and microstructure in a group of children with SMA type 2, compared with age-matched and sex-matched controls

Anaphylactic shock with methylprednisolone sodium succinate in a child with short bowel syndrome and cow’s milk allergy

Abstract Background Medications with methyl-prednisolone sodium succinate containing lactose, which potentially contains traces of cow’s milk proteins (CMP), could cause allergic reactions or compromise treatment of acute allergic reactions in sensitized patients. Case presentation We describe the unusual case of a one-year-old child affected by short bowel syndrome and history of severe cow’s milk allergy (CMA) and anaphylactic reaction due to intravenous administration of methyl-prednisolone sodium succinate (Solu-Medrol 40 mg, Pfizer). He was admitted to our hospital for severe respiratory failure and was initially treated with methyl-prednisolone (Urbason 40 mg, Sanofi Aventis), then with methyl-prednisolone sodium succinate (Solu-Medrol 40 mg, Pfizer). After the intravenous administration of second steroid, immediate anaphylaxis was recorded and treatment was stopped. Antihistamine and epinephrine were required and symptom resolution occurred. Conclusion Children who are highly sensitive to milk may have severe allergic reactions also after exposure to CMP through a different administration route than the oral one. Patients who have food allergies need to pay particular attention to the prescription of drugs and their formulation

E-cigarette or Vaping product use Associated Lung Injury (EVALI) in a 15 year old female patient – case report

Abstract Background E-cigarettes are devices which allow to aerosolize liquids containing nicotine or other substances. Ever since they were released on the market in 2006, the number of users have been constantly increasing, especially among adolescents, ranging from 7,6% to 9,3% in the age group 18–24 years old from 2014 to 2019. Hand in hand with the spread of E-cigarettes many have been the efforts to understand their impact on health. EVALI (E-cigarette or Vaping product use Associated Lung Injury) is an emerging condition with a heterogeneous presentation with several reported cases worldwide. We mean to report a case of EVALI in a 15-year-old female Caucasian patient, who's currently attending her clinic follow-up at Bambino Gesù Pediatric Hospital in Rome. Case presentation The patient was admitted to the Emergency Room due to acute respiratory failure in November 2020. At admittance, she was severely dyspneic (HR 120 bpm, SatO2 75%). As she was hospitalized amid the COVID-19 pandemics, she underwent a nasopharyngeal swab for SARS-CoV2, which turned out negative, and a chest CT scan. Chest CT scan showed a central ground grass pattern with peripheral sparing. At the anamnestic recall, it was disclosed she was an e-cigarette smoker and occasional marijuana user. The microbiological work-up proved only positive for Rhinovirus. Her clinical and radiological case was discussed with our radiologist who suspected EVALI. She was assisted through HFNC, antibiotical therapy and corticosteroids with a dramatic recovery within the first 48 h. Conclusions EVALI started being recognized a specifically nosological entity in summer 2019, with increasing cases being reported. No diagnostic criteria have been agreed upon yet, but its usual presentation includes respiratory, gastrointestinal and systemic symptoms of different degree and the diagnosis can be hypothesised in case the patient has an evocative clinical and radiological presentation and has been an E-cigarette smoker in previous 90 days. Due to the novelty of the condition and its heterogeneous presentation it is of interest to report the cases in which EVALI is identified to raise awareness about this emerging new-age disease