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.

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.

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.

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.

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.

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.

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.

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.

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.

Added value of SPECT/CT for correlation of MIBG scintigraphy and diagnostic CT in neuroblastoma and pheochromocytoma.

OBJECTIVE: In pheochromocytoma and neuroblastoma, pathologic findings on metaiodobenzylguanidine (MIBG) scintigraphy (planar and SPECT) and on diagnostic CT are sometimes difficult to correlate. Furthermore, CT reading may be impaired by anatomic distortion after surgery or irradiation and if contrast agent is not injected. The present study evaluates the impact of SPECT/CT fusion images on correlation and image analysis of both techniques. MATERIALS AND METHODS: Eleven patients, three adults (age range, 27-64 years) with pheochromocytoma and eight children (age range, 16-72 months) with neuroblastoma, underwent 15 (123)I-MIBG scintigraphy (whole body and SPECT/CT) and diagnostic CT during follow-up after treatment, with a time interval of 2 to 30 days (mean, 12 days) between MIBG scintigraphy and diagnostic CT. The diagnostic CT scans were read twice: blindly and with knowledge of the SPECT/CT findings. The scintigraphic and anatomic data were subsequently compared and were verified by clinical outcome. RESULTS: Of 15 imaging studies, there were nine cases of discordance between SPECT/CT and diagnostic CT, whereas concordant findings of planar MIBG and diagnostic CT were observed in six studies. Overall, SPECT/CT provided additional information in eight of the 15 cases (53%) and in eight of nine discordant studies (89%). In one case of pheochromocytoma in which anatomy was distorted by previous surgery and contrast agent was not injected, SPECT/CT findings guided the diagnostic CT that had initially misinterpreted the right adrenal gland as the inferior vena cava. In three of 11 studies performed for neuroblastoma, SPECT/CT facilitated the diagnostic CT reading: in one study, a small paravertebral thickening was overlooked at blind CT reading and in another case, SPECT/CT localized and characterized a soft-tissue mass medial to the iliac bone, which was missed on diagnostic CT in an area of difficult differential anatomy (bowel loops and eventual involved lymph nodes). In the third case, SPECT/CT directed the diagnostic CT to the MIBG abnormality after multiple surgical procedures. In these four cases, MIBG SPECT/CT allowed for localization of the pathologic site that was difficult to visualize on diagnostic CT. In four additional neuroblastoma studies in which a residual mass was present on diagnostic CT, planar MIBG scintigraphy was negative. SPECT/CT, focused on the area of the diagnostic CT abnormality, showed no focal MIBG uptake, thus increasing the diagnostic certainty of remission. CONCLUSION: In cases of equivocal diagnostic CT, SPECT/CT bridges the gap between MIBG scintigraphy and diagnostic CT, with guidance of the diagnostic CT and characterization of its findings. In this small series, MIBG SPECT/CT increased the diagnostic certainty in 89% of discordant studies.

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.

Prevention of esophageal strictures in a caustic burn model using halofuginone, an inhibitor of collagen type I synthesis.

OBJECTIVE: Esophageal strictures caused by caustic injury continue to be a plaguing problem. Halofuginone (HF) has been proven to inhibit the formation of fibrosis in various animal models and human diseases. Its mechanism appears to be through the suppression of the production of collagen alpha1(I) and transforming growth factor-beta signaling pathway. We tried to assess whether HF would have an effect on the formation of strictures after inducing caustic esophageal. MATERIALS AND METHODS: Esophageal injury was caused by injecting 25% NaOH to an isolated esophageal segment. Study group rats were treated with HF orally for 3 consecutive days before the injury and afterward. Control group rats received regular chow. The results were evaluated by upper gastrointestinal series (UGI) and through pathologic studies. RESULTS: HF treatment resulted in marked improvement in the esophageal strictures. The UGI series showed esophageal patency of 73% (45%-100%) in the treated animals (n = 7) as compared with almost no patency, 11% (5-16%), in the controls (n = 4) (P = .018). The histologic examination showed significantly less stricture and scarring in the treated group. Whereas the ratio between the esophageal wall thickness to mucosal thickness was 2.34 +/- 0.23 in the study group, the control group had a ratio of 9.56 +/- 0.69 (P = .0044). Finally, whereas 86% of the study group survived, all the rats in the control group died by day 20. CONCLUSIONS: HF modulated the wound healing reaction caused by caustic injury of the esophagus in a rat model, resulting in increased esophageal patency, reduction in esophageal wall thickness, and increased survival.

Ankylosis of the temporomandibular joint as a sequela of septic arthritis and neonatal sepsis.

Ankylosis of the temporomandibular joint (TMJ) can be a result of trauma, degenerative changes and infection or of a space-occupying lesion and, when occurring during early childhood, can result in severe functional disability and facial distortion. Septic arthritis of the TMJ is extremely rare in young infants. We report two children with TMJ ankylosis that is believed to have been a consequence of undiagnosed septic arthritis of the TMJ in the neonatal period.

OK-432 therapy for cervical lymphangioma.

OBJECTIVE: To describe our experience with sclerosing treatment of lymphangiomas in the head and neck region by intralesional injections of OK-432. STUDY DESIGN: Case series. METHODS: Patients with the diagnosis of a macrocystic-type cervical lymphangioma were treated by one to three intralesional injections of OK-432 (0.01 mg of OK-432/1 mL of lymphangioma fluid, up to a maximum of 0.2 mg in the first injection and 0.3 mg in the second or third injections). All injections were performed under ultrasound guidance. Children were injected under sedation. RESULTS: Eleven patients were treated with injections of OK-432: 7 children and 4 adults. They were followed up for a period of 5 to 68 (mean 30) months. Eight (73%) patients had complete or subcomplete resolution of the lymphangioma after one or two injections. In three (27%) cases, no response was obtained (2 cases) or the lymphangioma recurred (1 case) after two to three injections. In two cases, surgical excision was performed. There was no evidence of fibrosis around the cysts. There were no complications to OK-432 injections. CONCLUSION: Intralesional injection of OK-432 is an effective treatment modality for macrocystic-type lymphangiomas in the head and neck region. It has no complications, and surgical excision in case of failure is not compromised by fibrosis. Sclerosing of macrocystic-type lymphangiomas with OK-432 should therefore be considered before surgical excision.

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.