Post-operative anterior diaphragmatic hernias in children with Trisomy 21 after cardiac surgery.

Morgagni hernias account for less than 5% of congenital diaphragmatic hernias. They are characteristically retrosternal and bilateral, with right-sided predominance. An association between Trisomy 21 and diaphragmatic hernias resembling Morgagni hernia has been reported, but the effect of cardiac surgery on its formation has not been investigated. The purpose of this study was to determine whether there is a higher incidence of anterior diaphragmatic hernias in children with Trisomy 21 after cardiac surgery. We compared the prevalence of anterior diaphragmatic hernias in 92 patients with Trisomy 21 who underwent cardiac surgery with its prevalence in 100 children without Trisomy 21 who underwent cardiac surgery. All available CXRs of all children underwent revision for the presence of an anterior diaphragmatic hernia by a pediatric radiologist. Within the study group, four cases of an anterior diaphragmatic hernia were detected, all upon presentation to the emergency room due to breathing difficulties. No cases of an anterior diaphragmatic hernia were found in the control group (P = 0.0094). CONCLUSIONS: A high index of suspicion for an anterior diaphragmatic hernia should be maintained in children with Trisomy 21 who have undergone cardiac surgery and present with breathing difficulty. If CXR findings are uncertain, UGI series and\or CT should be performed. In light of our findings, the surgical technique has been modified in patients with DS in our medical center. WHAT IS KNOWN: • Several studies reported an association between Trisomy 21 and diaphragmatic hernia resembling Morgagni hernia, but the effect of cardiac surgery on its formation has not been investigated. WHAT IS NEW: • There is a higher incidence of anterior diaphragmatic hernia resembling a Morgagni hernia in children with Trisomy 21 after cardiac surgery. • A high index of suspicion for an anterior diaphragmatic hernia should be maintained in children with Trisomy 21 who have undergone cardiac surgery and present with breathing difficulty. If CXR findings are uncertain, UGI series and\or CT should be performed.

Acute pancreatitis in pancreatic-insufficient cystic fibrosis patients treated with CFTR modulators.

Cystic fibrosis transmembrane conductance regulator modulator therapy is associated with substantial clinical benefit and improved quality of life in patients with cystic fibrosis (CF). While their effect on lung function has been clearly reported, we are still in the process of unraveling the full impact they have on the pancreas. We present two cases of pancreatic-insufficient CF patients who presented with acute pancreatitis shortly after commencing elexacaftor/tezacaftor/ivacaftor modulator therapy. Both patients were treated with ivacaftor for 5 years prior to elexacaftor/tezacaftor/ivacaftor initiation, but had no previous episodes of acute pancreatitis. We suggest that highly effective modulator combination therapy may restore additional pancreatic acinar activity, resulting in the development of acute pancreatitis in the interim until ductal flow is improved. This report adds to the growing evidence for possible restoration of pancreatic function in patients receiving modulator therapy, and highlights that treatment with elexacaftor/tezacaftor/ivacaftor may be associated with acute pancreatitis until ductal flow is restored, even in pancreatic-insufficient CF patients.

Bilateral Intratonsillar Abscesses: A Deceiving Symmetrical Oral Bulging.

BACKGROUND: Unilateral intratonsillar abscess (ITA) is an underreported, well-known complication of acute tonsillitis. The prevalence of unilateral ITA compared to peritonsillar abscess (PTA) is 1:14. However, bilateral ITA is an extremely rare entity, with only four cases reported thus far. OBJECTIVES: To describe past cases and our experience, elaborating the diagnostic challenge and the surgical treatment for bilateral ITA. METHODS: We conducted a literature search in the PubMed database using the key words intra-tonsillar abscess, tonsillar abscess, bilateral tonsillar abscess, bilateral intra-tonsillar abscess and bilateral peritonsillar abscess. Our search was limited to the years 1980 to 2020. RESULTS: We found that only four cases of bilateral ITA were previously published. All were characterized by a delay in diagnosis with a median of 10 days (4-14 days), symmetrical oral cavity appearance, enlarged bilateral kissing tonsils, and subsequent treatment by surgical drainage/paracentesis. Respiratory compromise was a concern in most cases. Our patient was treated with bilateral quinsy tonsillectomy and had a prompt recovery. CONCLUSIONS: Bilateral ITA is a rare, deceiving entity, with a diagnosis delay attributed to the symmetrical oral bulging. We present the fifth case reported and the first ever reported in a pediatric patient. We describe the assumed pathogenesis and the main characteristics among all five patients, emphasizing the important role of a high index of suspicion and appropriate imaging, guiding to proper diagnosis and treatment.

Orbital nodular fasciitis in child with biallelic germline RBL2 variant.

RBL2/p130 is one of three highly conserved members of the retinoblastoma (RB) protein family. It is strongly upregulated during neuronal differentiation and brain development, and is critical for survival of post-mitotic neurons. Similar to RB1, it has been implicated as a tumor suppressor gene and has been shown to be dysregulated in various types of cancer. Recent publications describe biallelic, germline loss of function variants in RBL2 in individuals with profound developmental delay. We report a child with profound developmental delay, microcephaly, and hypotonia, who developed fulminant exophthalmos at age 6 years. Brain MRI followed by a biopsy of an intra-orbital mass revealed a mesenchymal tumor. Post-surgical histopathologic examination of the resected tumor was compatible with diagnosis of nodular fasciitis. Exome sequencing from peripheral blood identified a biallelic frameshift variant (c.901dupT) in RBL2. Notably, no malignancies were reported in previous cases with RBL2 variants. This case provides a possible association between RBL2 and orbital tumors.

Questionnaire-based study showed that neonatal chest radiographs could be reliably interpreted using the WhatsApp messaging application.

AIM: We surveyed whether clinicians used the WhatsApp messaging application to view neonatal chest radiographs and asked a sub-sample to compare them with computer screen viewings. METHODS: The study was conducted at three university-affiliated medical centres in Israel from June-December 2016. Questionnaires on using smartphones for professional purposes were completed by 68/71 paediatric residents and 20/28 neonatologists. In addition, 11 neonatologists viewed 20 chest radiographs on a computer screen followed by a smartphone and 10 viewed the same radiographs in the opposite order, separated by a washout period of 2 months. After another 2 months, five from each group viewed the same radiographs on a computer screen. Different interpretations between viewing modes were assessed. RESULTS: Most respondents used WhatsApp to send chest radiographs for consultation: 82% of the paediatric residents and 80% of the neonatologists. The mean number of inconsistencies in diagnosis was 3.7/20 between two computer views and 2.9/20 between computer and smartphone views (p = 0.88) and the disease severity means were 3.7/20 and 2.85/20, respectively (p = 0.94). Neonatologists using WhatsApp only determined umbilical line placement in 80% of cases. CONCLUSION: WhatsApp was reliable for preliminary interpretation of neonatal chest radiographs, but caution was needed when assessing umbilical lines.

Recurrent Pneumonia due to Fibrosing Mediastinitis in a Teenage Girl: A Case Report with Long-Term Follow-Up.

A teenage girl was evaluated for recurrent right pneumonia. The evaluation revealed a calcified mediastinal mass that compressed the right intermediate and middle lobar bronchi, as well as the right pulmonary artery and veins. The clinical picture together with imaging studies and borderline positive serology testing suggested a diagnosis of fibrosing mediastinitis associated with histoplasmosis. This rare condition is characterized by the local proliferation of invasive fibrous tissue within the mediastinum due to a hyperimmune reaction to Histoplasma capsulatum. Antifungal and anti-inflammatory therapies are usually ineffective, and surgical intervention contains a high morbidity risk. Palliative surgery and stenting of the compressed airway have been suggested. In the past, the prognosis was thought to be poor, but recent studies demonstrate a more positive outcome. Our patient had been radiologically and functionally stable under follow-up for over thirteen years and has married and delivered two healthy children, both following an uneventful pregnancy.

Neonatal sigmoid volvulus.

BACKGROUND: Neonatal sigmoid volvulus is a rare entity. It is associated with Hirschsprung's disease. Presentation is acute abdominal distention, vomiting and obstipation. Abdominal radiograph will show the "coffee bean" sign, but this is frequently missed and the diagnosis requires a high index of suspicion. Treatment options include contrast enema, colonoscopy or laparotomy, depending on the condition of the baby and local availability. POPULATION AND RESULTS: During the last 6years, 6 infants with sigmoid volvulus were treated in our department. Four presented during the first 48h since birth, and 2 presented at the age of 2 and 7weeks of age. One child was operated and 5 had primary contrast enema with radiologic de-volvulus. Rectal biopsy was performed in all cases; three children had Hirschsprung's disease. Those with normal biopsies responded well to rectal washouts. Two patients had early one stage transanal pullthrough and one had 2 further occasions of sigmoid volvulus prior to definitive surgery. All three recovered with an uneventful course. CONCLUSIONS: Neonatal sigmoid volvulus requires a high level of suspicion. Contrast enema is efficient for primary de-volvulus. Rectal biopsy should be performed and if positive for Hirschsprung's disease, surgery should be performed sooner rather than later.

Truncating mutation in the nitric oxide synthase 1 gene is associated with infantile achalasia.

Nitric oxide is thought to have a role in the pathogenesis of achalasia. We performed a genetic analysis of 2 siblings with infant-onset achalasia. Exome analysis revealed that they were homozygous for a premature stop codon in the gene encoding nitric oxide synthase 1. Kinetic analyses and molecular modeling showed that the truncated protein product has defects in folding, nitric oxide production, and binding of cofactors. Heller myotomy had no effect in these patients, but sildenafil therapy increased their ability to drink. The finding recapitulates the previously reported phenotype of nitric oxide synthase 1-deficient mice, which have achalasia. Nitric oxide signaling appears to be involved in the pathogenesis of achalasia in humans.

Factors associated with bacteremia in young infants with urinary tract infection.

BACKGROUND: Urinary tract infection (UTI) is the most frequent severe bacterial infection in infants. Up to 31% of infants with UTI have bacteremia. METHODS: We retrospectively identified all infants aged 0-2 months who were managed in our hospital with UTI during a 1-year period. Those with bacteremia were compared with those without bacteremia, according to the following variables: ethnicity, age, gender, white blood cell and polymorphonuclear counts, C-reactive protein, urinalysis and blood creatinine values as related to age-appropriate norms, imaging and outcome. RESULTS: We identified 81 infants with 82 episodes of UTI. Most occurred in males (72.8%) and 35 (42.7%) were in infants of non-Jewish origin. In 14/81 (17.3%) of episodes, Escherichia coli was cultured from blood. In multivariate analysis, increased blood creatinine levels (P = 0.004) and non-Jewish origin (P = 0.006) were associated with bacteremia. Time to defervescence was significantly longer in bacteremic versus nonbacteremic children (P = 0.018). Duration of hospitalization was longer in bacteremic infants-10 (7-17) days in bacteremic versus 7 (1-14) days in nonbacteremic children (P < 0.001). CONCLUSIONS: In infants aged 0-2 months with UTI, increased blood creatinine value at admission was associated with bacteremia. This value provides an additional clue on admission, independent of personal judgment, to help identify infants at higher risk for bacteremia, prolonged hospitalization and possible complications.

Spondyloepimetaphyseal dysplasia, short limb-abnormal calcifications type: progressive radiological findings from fetal age to adolescence.

BACKGROUND: Spondyloepimetaphyseal dysplasia, short limb-abnormal calcifications type (SEMD, SL-AC) is a rare autosomal recessive condition with a grave prognosis. OBJECTIVE: We aimed to describe the progression of symptoms from fetal age to adolescence in SMED, SL-AC patients. MATERIALS AND METHODS: We retrospectively evaluated radiological findings on plain films, CT and MRI for eight children with genetically proven SEMD (male:female ratio 4:4, ages 30-week fetus to 18 years) and summarized findings from case reports and case series in the literature. RESULTS: Early and persistent radiological signs of SEMD were platyspondyly, chest narrowing, short ribs, and broad and short bones in the extremities and pelvis. In five children, we observed an unusually massive C2 vertebral body with narrowing of the spinal canal. Disease progression was characterized by anterior dislocation of C1, kyphoscoliosis, bowing of the limbs, metaphyseal and epiphyseal changes and abnormal calcifications. Earliest appearance of abnormal calcifications was 1.5 years; four children had no abnormal calcifications at diagnosis. There were persistent large open fontanelles in all children with skull radiographs, including a 17-year-old boy. Disease severity and progression were variable. Complications included cord compression and restrictive lung changes. CONCLUSION: Disease severity and progression vary. Absence of abnormal calcifications does not preclude the diagnosis. An unusual, massive C2 vertebral body may contribute to spinal cord compression. Persistent open fontanelles should be added to the clinical characteristics of SEMD, SL-AC.

An outbreak of adenovirus type 7 in a residential facility for severely disabled children.

BACKGROUND: Adenoviruses cause a variety of clinical symptoms, involving the respiratory, gastrointestinal, urogenital, and neurologic systems. Only a few of the 55 known serotypes of adenovirus that affect humans can cause outbreaks of respiratory tract infection. AIM: To describe the characteristics and clinical manifestations of severe respiratory disease contracted by 8 physically and cognitively disabled children during a very short outbreak of adenovirus serotype 7 infection in a residential facility. METHODS: The clinical, imaging, and laboratory findings of the patients who were hospitalized with severe respiratory symptoms were retrospectively reviewed. Molecular typing of the adenovirus was performed. RESULTS: During 10 days in February 2010, 8 severely disabled children, 9 months to 5 years of age (median 22.5 months), from the same residential facility, were hospitalized due to severe acute respiratory disease with hypoxemia. Four of them (50%) needed mechanical ventilation for 2 to 8 days and one developed multisystem failure, including acute renal failure. Adenovirus serotype 7 was detected in the respiratory specimens of all 8 children. Two patients were treated with intravenous cidofovir. All 8 patients survived and were discharged after hospitalization of 6 to 15 (median: 11.5) days. The epidemiologic investigation revealed that all the 8 affected children shared a playroom and a caregiver worked with them while suffering fever, sore throat, and conjunctivitis before the onset of the outbreak. CONCLUSIONS: Adenovirus type 7 may cause short outbreaks of infection in institutions, causing children to develop life-threatening disease. Early detection of pathogens causing respiratory infections in institutions, isolation, and other preventive precautions are advocated. Moreover, vaccination of health care providers in institutions with the currently available live, oral adenovirus vaccine for types 4 and 7 should be considered.

Cardiac, lung, and brain thrombosis in a child with obstructive sleep apnea.

A 3-year-old boy with failure to thrive and severe adenotonsillar hypertrophy with a clinical presentation of prolonged obstructive sleep apnea (OSA), was referred to the emergency room due to severe respiratory distress and anasarca. Echocardiography revealed right heart failure, a cystic lesion in the right ventricle and severe pulmonary hypertension. D-dimer was elevated but spiral computerized tomography (CT) and lung scan did not show any perfusion defects. Excision of the cardiac lesion during open-heart surgery, lung biopsy, and adenotonsillectomy were performed. Pathological examination showed an intracadiac organized thrombus and eccentric intimal fibrosis of the pulmonary arteries-which is a pathognomonic of pulmonary arterial microemboli. Brain CT revealed vein thrombosis of the left sigmoid sinus. Blood tests for inherited thrombophilia were normal. Today, 5 years after adenotonsillectomy, the child is normally developed, completely asymptomatic, free of any medications, and has a normal echocardiography. This case report may indicate that prolonged OSA can be a procoagulant state which can cause severe cardiovascular morbidity in children.

Perivascular epithelioid cell tumor of the ascending colon mesentery in a child: case report and review of the literature.

Perivascular epithelioid cell tumor (PEComa) is a rare mesenchymal tumor. Perivascular epithelioid cell tumors of the gastrointestinal tract are very rare, with only about 20 previous reported cases. We present a 5.5-year-old boy with PEComa of the right colon. Treatment consisted of tumor resection only, without additional adjuvant therapy. Two years after surgery, he remains free of tumor. To the best of our knowledge, this is the youngest reported child with PEComa of the colon. We review the literature concerning PEComas in children, especially those of the gastrointestinal tract. We emphasize the importance of correct immunohistochemistry diagnosis, recommended treatment, and surveillance of this unique family of tumors.

Does CT have an additional diagnostic value over ultrasound in the evaluation of acute inflammatory neck masses in children?

OBJECTIVES: We assessed the additional value of contrast-enhanced CT versus US for evaluation of acute cervical inflammatory masses and choosing treatment strategy. METHODS: We retrospectively reviewed 210 files of paediatric patients admitted with an acute inflammatory neck mass from 2005 to 2008 (M:F = 108:102, mean age 4.5 years). All patients underwent diagnostic ultrasound and Doppler of the neck; CT was performed in 25 patients within 2-72 h. Clinical and radiological findings were correlated, and imaging impact on patient management was assessed. RESULTS: In the 210 patients, US provided sufficient information in 184 of 185 (99.5%) patients undergoing only US. In one patient with no sonographic evidence of collection, an abscess was drained surgically on the point of fluctuation. Fluid collections were drained in 17 patients based on US findings; inflammatory processes were managed conservatively in 164. CT provided additional information in 4 of 25 patients (16.0%), revealing airways compromise in 2 and collections in 2. CONCLUSION: US provided sufficient information about the nature, location, and extent of the inflammatory mass in 97.6% of our patients, suggesting it should be the main, and generally single, imaging technique in these patients. CT should be reserved for patients with an aggravating clinical course and suspicion of deep neck infection or airways compromise.

Ectopic presacral choroid plexus cyst in a neonate.

An unusual case of a presacral ectopic choroid plexus cyst in a neonate is described. After birth, a soft lump was noticed at the left buttock. Imaging studies including sonography and magnetic resonance imaging demonstrated a presacral cystic lesion extending to the buttocks, composed of several septated cystic masses with no connection to the spinal canal or rectum. After total resection, the tumor was diagnosed as an ectopic choroid plexus cyst. To our knowledge, this is the first case report in the English literature of a presacral ectopic choroid plexus cyst.

Combination of preoperative embolization and surgery in the treatment of a giant congenital neuroid nevus of the forehead and scalp in a child. Case report.

Congenital melanocytic nevi of neuroectodermal origin are composed primarily of melanocytes and occasional neural elements. A subset of large/giant congenital melanocytic nevi is characterized by neuroidal differentiation resembling the histological pattern of neurofibroma (neuroid congenital melanocytic nevi). The authors report the case of a male infant born with a neuroid congenital melanocytic nevus presenting as a large mass covering extensive portions of his scalp and forehead. The atypical feeding arteries to the nevus were larger in diameter then the patient's internal carotid arteries and formed a rich network of large blood vessels in the nevus. Selective preoperative embolization using calibrated particles was followed by a complete excision and staged reconstruction with tissue expanders. The authors believe that this multidisciplinary approach allowed for a safe surgical procedure with minimal blood loss for this most unusual pediatric head and neck tumor.

Prolonged remission of severe Cushing syndrome without adrenalectomy in an infant with McCune-Albright syndrome.

A 4 month-old girl presented with severe Cushing syndrome caused by McCune-Albright syndrome. After undergoing 19 months of pharmacologic suppression of cortisol production, she has been in clinical remission for more than 6 years. Adrenalectomy may be avoidable even in severe cases of Cushing syndrome associated with McCune-Albright syndrome.