Uncommon Presentation of Childhood Leukemia in Emergency Department: The Usefulness of an Early Multidisciplinary Approach.

ABSTRACT: Leukemia is the most common childhood malignancy, and it is often characterized by pallor, fatigue, cytopenia, and organomegaly; sometimes musculoskeletal symptoms, mainly characterized by diffuse bone pain in the lower extremities, are the onset clinical characteristics of the disease. In these cases, the disease may initially be misdiagnosed as reactive arthritis, osteomyelitis, or juvenile idiopathic arthritis delaying appropriate diagnosis and management. Even if leukopenia, thrombocytopenia, and a history of nighttime pain are reported to be the most important predictive factors for a pediatric leukemia, blood examinations can sometimes be subtle or within normal limits, and this represents a further diagnostic difficulty. Radiological findings of leukemic bone involvement are described in patients with musculoskeletal symptoms of acute lymphoblastic leukemia and often appear before hematologic anomalies, but they are not specific for the disease. However, they could be helpful to get the right diagnosis if integrated with other features; thus, it is important knowing them, and it is mandatory for the multidisciplinary comparison to talk about dubious cases even in an emergency setting. We describe 4 patients visited in the emergency department for musculoskeletal complaints and having radiological lesions and a final diagnosis of acute lymphoblastic leukemia, in whom the onset of the manifestations could mimic orthopedic/rheumatologic diseases.

Management of children presenting with low back pain to emergency department.

OBJECTIVE: We aimed to describe characteristics, etiology and health care use in children with low back pain (LBP) presenting to pediatric emergency department (ED) and to develop an algorithm to design a diagnostic approach. METHODS: We conducted a 7-year cohort study of children admitted to ED with a primary complaint of LBP. They were classified into diagnostic groups: visceral LBP; traumatic LBP; non-visceral/non-traumatic LBP. To identify high-risk factors (red flags) associated with severe prognosis conditions (SPCs), we analyzed the non-visceral/non-traumatic group comparing the SPC children with those children without SPCs. RESULTS: Our population comprised 140 females (52.6%) and 126 males (47.4%), with a median age of 10.5 years. Eighty children (30.3%) were hospitalized, with an average length of stay of 8.53 ±â€¯9.84 days. SPCs accounted for 28 patients (18.9%) of overall 148 with non-traumatic/non-visceral LBP. In this group, SPCs presented with earlier onset and longer duration of symptoms than non-SPCs. The presence of red flags was more significant in the SPCs group, 28 vs 18; 100% vs 15% (p < 0.001); sensitivity 100%, specificity 85%. Among SPCs, 78.6% were hospitalized vs non-SPC (16.8%) (p < 0.001); within SPC group 2 patients returned because of onset of red flags. CONCLUSION: Our study identified significative high-risk factors (red flags) associated with serious outcomes (SPC group) compared to the non-SPC group, thereby ensuring specific treatment. We developed an algorithm based on previous literature and the findings of our study, which will need to be validated by future prospective research.

Myeloid Sarcoma Presenting as Low Back Pain in the Pediatric Emergency Department.

BACKGROUND: Low back pain is a common symptom in the pediatric population; approximately half of all children present with at least one episode of low back pain. The majority of cases are due to nonspecific causes such as musculoskeletal trauma with spontaneous regression. On some occasions, however, life-threatening diseases have to be considered. CASE REPORT: A 15-year-old girl presented to the Pediatric Emergency Department for a history of continuous 2-day duration of low back pain and transient paresthesia of the right gluteal area. Low back pain was diagnosed and nonsteroidal anti-inflammatory treatment combined with rest were prescribed. After 7 days, worsening of the clinical conditions was observed with bilateral gluteus paresthesia. A corset was recommended, and magnetic resonance imaging (MRI) and rheumatological evaluation were prescribed on an outpatient basis. After 5 days she was hospitalized due to urinary incontinence and persistence of pain. Blood tests revealed neutrophil leukocytosis associated with mild anemia, thrombocytopenia, hyperuricemia, and increased lactate dehydrogenase. MRI examination of the spine demonstrated a mass involving the sacral canal and the presacral region, extending through the sacral foramina, along the nerve roots. Similar tissue was found at multiple levels in the spine and in the right orbit. Bone marrow aspiration and biopsy highlighted the presence of myeloid blasts and myeloid dysplasia, consequently, myeloid sarcoma was diagnosed. WHY SHOULD AN EMERGENCY PHYSICIAN BE AWARE OF THIS?: Our case demonstrates the importance of prompt identification of diagnostic "red flags" in childhood low back pain, indicating the need for diagnostic investigations such as MRI and blood tests.

Anorectal malformations associated spinal cord anomalies.

PURPOSE: The present study aims to identify clinical and pathological factors that can predict the risk of spinal cord anomalies (SCA) in patients with anorectal malformations (ARM), the need for neurosurgery, and to define the impact of SCA on the outcome of patients with ARM. METHODS: A 16-year retrospective analysis of all patients treated at a single tertiary children's Hospital with diagnosis of ARM. Data were collected to assess the impact of defined clinical characteristics on prevalence of SCA (detected at MRI). Children surgically treated or not for SCA were compared for age, clinical symptoms and type of anomalies at surgery or at last follow-up, respectively. Moreover, patients with intermediate/high ARMs, with or without SCA were compared for neurogenic bladder (NB), constipation, soiling and need for bowel management (BM). RESULTS: Two hundred and seventy-five children were treated for ARM in the study period, 142 had spinal MRI that showed SCA in 85. Patients with SCA had significantly higher prevalence of preterm birth (p < 0.05), cardiac anomalies (p = 0.02), vertebral anomalies (p = 0.0075), abnormal sacrum (p < 0.0001), and VACTERL association (p = 0.0233). Ten patients were surgically treated for SCA. The prevalence of neurological bladder and neuro-motor deficits, of vertebral and genital anomalies, particularly cryptorchidism, was significantly higher in the operated group (p < 0.01, for each analysis). In patients with intermediate/high ARMs, no significant difference was observed between those with or without SCA, in terms of prevalence of NB, intestinal function and need for BM. CONCLUSIONS: In patients with ARM, factors that can predict a higher prevalence of SCA and also determine an increased indication to neurosurgery may be identified. SCA by itself does not seem to affect the functional prognosis of children with intermediate/high ARM. These data may help physicians in stratifying the clinical and diagnostic pathway of patients with ARM.

Case Report: Double Pectus Up in severe pectus excavatum, the new frontier of modified taulinoplasty.

Introduction: Pectus excavatum, also known as "sunken chest" or "funnel chest," is a congenital condition where the sternum caves inward, creating a noticeable depression in the chest. This deformity can range from mild to severe cases, and can affect appearance and lung and heart function. Treatment options vary depending on the severity of the condition and associated symptoms. A case study was conducted on three patients suffering from severe forms of pectus excavatum using modified taulinoplasty with two Pectus Up bars. Case description: The patients were males, with an age of 15 years. Preoperatively, they underwent spirometry, an echocardiogram, and allergy tests. The procedure involved inserting two Pectus Up bars into the chest wall at the major sternal defect, allowing the implant to remain completely invisible. The procedure involved placing the sternal plate at the deepest point and anchored to the sternum with five self-tapping screws. The chest plate was then fixed to the bar using two screws. Discussion: The use of Pectus Up was first reported in 2016 and has been a subject of scientific discussion and research. The double Pectus Up technique offers improved correction, increased stability, and reduced complications. However, it also presents challenges such as increased technical complexity and potential for prolonged operative times. Patient outcomes showed promising results in terms of short-term correction and long-term stability. The use of a double bar technique in the modified Taulinoplasty procedure is a key area of ongoing clinical research and innovation in pectus excavatum repair. Further studies will be needed, including more institutions that use this technique to validate our initial experience.

Magnamosis for long gap esophageal atresia: Minimally invasive "fatal attraction".

BACKGROUND: Aim of study is to report our preliminary experience with magnetic anastomosis (magnamosis) treating long-gap esophageal atresia (LGEA), the most challenging condition of esophageal atresia continuum. Magnamosis has been reported in 20 patients worldwide as an innovative and marginally invasive option. METHODS: Prospective evaluation of all LGEA patients treated with magnamosis was performed (study registration number: 2535/2021). Main outcomes considered were demographic and surgical features, postoperative complications and feeding within 6-month of follow-up. RESULTS: Between June 2020 and January 2021, 5 LGEA patients (Type A, Gross classification) were treated. Median preoperative gap was 5 vertebral bodies. Magnetic bullets were placed at an average age of 81 days of life, leading to successful magnamosis in all cases: 4 infants had primary magnetic repair (one after thoracoscopic mobilization of the pouches), 1 patient had a delayed magnamosis after Foker's procedure. Esophageal anastomosis was achieved after an average of 8 days. No anastomotic leak was found. All patients developed anastomotic stenosis at 6-month follow-up, requiring a mean of 6 dilations each. Full oral feeding was achieved in 3 patients, while 2 were still on oral-gastrostomy feeding. One patient experienced small esophageal perforation after dilation (3 months after magnamosis), distal to the anastomotic stricture and subsequently developed oral aversion. CONCLUSIONS: Our preliminary results suggest magnamosis a safe and effective minimally invasive option in patients with LGEA. Absence of postoperative esophageal leaks may represent a major advantage of magnamosis over conventional surgery, although possible high rate of esophageal stenosis should be further evaluated. LEVELS OF EVIDENCE: IV (Case series with no comparison group).

Case Report: Modified Taulinoplasty: a new technique for minimally invasive repair of pectus excavatum.

Introduction: About 95% of congenital chest wall deformities are pectus abnormalities, with pectus excavatum (PE) being the most common. The purpose of this work is to offer a modified Taulinoplasty Technique based on 35 consecutive PE patients' 1-year single-center experience in 2022. Technique: One minimally invasive procedure for PE is taulinoplasty. In order to prevent invasion of the mediastinum or pleural cavity, it is considered that external traction can be used to raise the sternum. Our experience indicates that the most common surgical consequences of this procedure-which involves creating a submuscular and subcutaneous tunnel to install the metal device-are post-operative seroma and wound dehiscence. We modified the conventional method to achieve more aesthetically pleasing results. Discussion: Taulinoplasty seems to be a safe technique, easier and more feasible than standard Taulinoplasty, with better outcomes in terms of surgical complications, although further experience is necessary to confirm our preliminary data.

One Year of Lung Ultrasound in Children with SARS-CoV-2 Admitted to a Tertiary Referral Children's Hospital: A Retrospective Study during 2020-2021.

During the COVID-19 pandemic, the lung ultrasound (LU) turned out to be a pivotal tool to study the lung involvement in the adult population, but the same was not well evaluated in children. We detected the LU patterns through an integrated approach with clinical−laboratory features in children hospitalized for COVID-19 in relation to the temporal trend of the Italian epidemic. We conducted a retrospective study which took place at a pediatric tertiary hospital from 15 March 2020 to 15 March 2021. We compared the characteristics of the initial phase of the first COVID-19 year­in the spring and summer (15 March−30 September 2020)­and those of the second phase­in the autumn and winter (1 October 2020−15 March 2021). Twenty-eight patients were studied both in the first and in the second phase of the first COVID-19 year. The disease severity score (DSS) was significantly greater in the second phase (p = 0.015). In the second phase of the first COVID-19 year, we detected a more significant occurrence of the following LU features than in the first phase: the irregular pleural line (85.71% vs. 60.71%; p = 0.035), the B-lines (89.29% vs. 60%; p = 0.003) and the several but non-coalescent B-lines (89.29% vs. 60%; p = 0.003). The LU score correlated significantly with the DSS, with a moderate relationship (r = 0.51, p < 0.001). The combined clinical, laboratory and ultrasound approaches might be essential in the evaluation of pulmonary involvement in children affected by COVID-19 during different periods of the pandemic.

Lung Ultrasound to Detect Pneumothorax in Children Evaluated for Acute Chest Pain in the Emergency Department: An Observational Pilot Study.

Background: Spontaneous pneumothorax is a relatively uncommon and poorly studied condition in children. While several protocols have been developed to evaluate the use of lung ultrasound for dyspneic adult patients in the emergency department, no specific guidelines are present for pediatric emergency physicians. Objectives: We prospectively analyzed children with acute chest pain and clinical suspicion of pneumothorax evaluated at the pediatric emergency department. Methods: We consecutively enrolled children aged 5-17 years presenting to the pediatric emergency department with clinically suspected pneumothorax based on sudden onset of acute chest pain. After clinical examination, all children underwent lung ultrasound followed by chest X-ray (reference standard). We enrolled 77 children, of which 13 (16.9%) received a final diagnosis of pneumothorax. Results: The lung point had a sensitivity of 92.3% (95% CI 77.8-100) and a specificity of 100% (95% CI 94.4-100) for the detection of pneumothorax. The "barcode sign" had a sensitivity of 100% (95% CI 75.3-100) and a specificity of 100% (95% CI 94.4-100) for the detection of pneumothorax. Conclusion: Lung ultrasound is highly accurate in detecting or excluding pneumothorax in children with acute chest pain evaluated in the pediatric emergency department. If pneumothorax is suspected, but the lung point is not visible, the barcode sign should always be sought as it could be a form of massive pneumothorax.

Late congenital diaphragmatic hernia: is a significant challenge? A case series and review from literature.

BACKGROUND: Late-presenting congenital diaphragmatic hernia (L-CDH) diagnosis is a challenge for its clinical various presentation. In literature radiologic misdiagnosis is up to 62%. The aim of this study is analyze clinical findings about our cases series in a particular setting of Pediatric Emergency Department (PED) and review of literature. METHODS: We retrospectively analyzed the medical records of children older than 1 month, operated for L-CDH from November 2009 to December 2019 presented to PED, with a total of 20 children (5 Morgagni and 15 Bochdaleck). RESULTS: The median age at diagnosis was 1,48 years. 50% patients had a history of previouses symtptoms with a mean duration of 243,75 days. In 30 % of cases associated anomalies were presented, mainly cardiovascular. 25% of patients had undergone to chest X-ray in past history with misdiagnosis of pneumonia, microganulia and broncovascular thickening. Misdiagnosis are manly among left sided Bochdaleck hernia. Respiratory distress alone or associated with vomiting is commonest acute symptom refered to PED. Respiratory symptoms were more common in younger children, while gastrointestinal ones in older children (not statistically differences p=0,8769). Post-operative recurrence were frequent only in cases of right sided CDH and comparing with left ones, there is a difference statistically significant (p=0.0476). CONCLUSIONS: L-CDH should be suspected in cases of unexplained acute respiratory distress and vomiting, particulary when children are affected to associate cardiovascular malformation. In cases of patients with long previouses symptoms and various accesses to PED is important to emphasize history of respiratory distress, dysphagia and failure to thrive and should be considered a chest X-ray.

Predictive value of spinal bone anomalies for spinal cord abnormalities in patients with anorectal malformations.

AIM: To evaluate the correlation between sacral/vertebral anomalies and spinal cord anomalies (SCA) on MRI, in patients with anorectal malformation (ARM). METHODS: Patients with ARM consecutively treated between January 1999 and August 2019 were included. Radiological imaging of sacrum and spine were retrospectively analyzed and correlated to the presence of SCA at MRI. Fisher's exact test and X2 test were used as appropriate; p<0.05 was considered statistically significant. RESULTS: 348 patients with ARM were enrolled in the study, 147 presented SCA at MRI. 144 patients showed spinal bone anomalies, isolated vertebral and sacral anomalies were found in 17,6% and 35% respectively. Higher level of ARM was associated with a significant higher prevalence of sacral and vertebral anomalies. A significant correlation was found between the "level" of ARM and the presence of SCA (p<0.05). Sacral anomalies were significantly correlated with the presence of SCA at MRI (p<0.05). SCA were found in 70% of patients with vertebral anomalies (VA) and in 76% of patients with sacral anomalies. The presence of multiple malformations (vertebral and sacral anomalies) are strictly related to the presence of SCA. However, the absence of spinal bone anomalies does not exclude the presence of SCA. SD was the most represented type of SCA (n=94/147), of those 96% had fatty filum. Neurological or neurourological symptoms were detected in 11,5% patients (n=17) with SCA and required neurosurgical intervention. CONCLUSIONS: Our data confirm the strong relation between sacral or vertebral anomalies and SCA. However, in our series also patients without sacral/vertebral anomalies had SCA at MRI. Our results suggest that, despite the presence or absence of spinal anomalies, spinal cord MRI should be performed in all children with ARM, to allow a correct multidisciplinary follow-up and treatment. In fact, most patients with spinal bone and SCA are asymptomatic, but could develop clinical manifestations during their growth.

Pediatric Short Bowel Syndrome: Predicting Four-Year Outcome after Massive Neonatal Resection.

OBJECTIVES: The aim of this study was to ascertain predictors of survival, liver disease (LD), and enteral autonomy 48 months after resection in neonatal short bowel syndrome (SBS) patients with residual small bowel length (SBL) ≤40 cm. PATIENTS AND METHODS: Medical records of all SBS patients followed up between 1996 and 2016 were retrospectively reviewed. Survival rate, prevalence of LD, and of enteral autonomy were evaluated. RESULTS: Forty-seven patients were included, and 43 were still alive at the end of the study period, with cumulative 48-month survival of 91.5%. Twenty-one (45%) patients developed LD, all within the first 6 months. On the final follow-up visit, three (6%) patients were still jaundiced and progressed toward end-stage LD. LD prevalence was higher in patients with recurrent bloodstream infections (odds ratio [OR] 5.4, 95% confidence interval [CI] 1.5-19.3). Of the 43 surviving patients, 22 (51%) had enteral autonomy 48 months after resection. The probability of weaning off parenteral nutrition (PN) was strongly correlated with the remaining SBL. CONCLUSION: Survival of patients who have undergone neonatal massive small bowel resection has improved in recent years. Multidisciplinary strategies can improve the course of LD, but not the probability of weaning off PN, which seems to be strongly dependent on the anatomical profile of residual bowel. Therefore, the primary surgical approach should be as conservative as possible to gain even small amounts of intestinal length, which may be crucial in promoting intestinal adaptation.

Clinical management of post-pyloric enteral feeding in children.

Post-pyloric feeding (PF) allows the administration of enteral nutrition beyond the pylorus, either into the duodenum or, ideally, into the jejunum. The main indications of PF are: upper gastrointestinal tract obstructions, pancreatic rest (e.g., acute pancreatitis), gastric dysmotility (e.g., critically ill patients and chronic intestinal pseudo-obstruction) or severe gastroesophageal reflux with risk of aspiration (e.g., neurological disability). Physiological and clinical evidence derives from adults, but can also be pertinent to children. This review will discuss the practical management and potential clinical applications of PF in pediatric patients. Some key studies pertaining to the physiological changes during PF will also be considered because they support the strategy of PF management.

Oxalosis in primary hyperoxaluria in infancy : Report of a case in a 3-month-old baby. Follow-up for 3 years and review of literature.

Primary hyperoxaluria (PH1) is a rare inborn autosomal recessive metabolic disorder due to the deficiency of hepatic alanine-glyoxylate-aminotransferase. This deficiency results in excessive synthesis and urinary excretion of oxalate, inducing renal stone formation and deposition of calcium oxalate in the kidney, bone, myocardium, and vessels (systemic oxalosis, SO) in the most severely affected individuals. We report renal and skeletal changes in a 3-month-old girl with PH1 and SO. Intense cortico-medullary hyperechogenicity and increased homogeneous radiopacity of normal-sized kidneys suggested the diagnosis of SO. Skeletal survey showed osteopenia and characteristic symmetrical metaphyseal transverse bands in long bones, progressively becoming more dense and migrating towards the diaphysis. Multiple pathological and slowly healing fractures of the limbs occurred at the dense band level. A radiopaque rim was then observed in flat bones, epiphyseal nuclei, and vertebral bodies. Inflammatory granulomatous reaction, induced by the presence of oxalate crystals in the marrow spaces, coexisted with progressively evident radiological signs of secondary hyperparathyroidism, with partially overlapping features. The patient was treated by peritoneal dialysis and hemodialysis until combined liver-kidney transplantation. There are no previous reports of infants treated with hemodialysis for more than 2 years.

Herlyn-Werner-Wunderlich syndrome: uterus didelphys, blind hemivagina and ipsilateral renal agenesis. Sonographic and MR findings in 11 cases.

BACKGROUND: Uterus didelphys with obstructed hemivagina and ipsilateral renal agenesis is a rare entity, sometimes referred to as Herlyn-Werner-Wunderlich syndrome (HWW). It usually presents after menarche with progressive pelvic pain, sometimes with regular menses, and a palpable mass due to hemihaematocolpos. The diagnosis is generally made only if the suspicion of this genitourinary syndrome is raised. OBJECTIVE: To highlight the imaging diagnostic clues in this rare condition. MATERIALS AND METHODS: We report on 11 adolescents with this condition. RESULTS: Sonography mostly allowed the correct diagnosis by showing uterovaginal duplication, haematocolpos or haematometrocolpos, and the absence of the ipsilateral kidney. MRI provided more detailed information regarding uterine morphology, the continuity with each vaginal channel (obstructed and nonobstructed), and the bloody nature of the contents. CONCLUSION: Early and accurate diagnosis of this syndrome is important so that adequate and prompt surgical therapy (excision of the vaginal septum) can provide relief of pain and prevent further complications. It is also advisable to look for an obstructed Müllerian system whenever a multicystic dysplastic kidney or the absence of a kidney is discovered in a fetus, or girl postnatally.

Pleuropulmonary blastoma, a distinctive neoplasm of childhood: report of three cases.

BACKGROUND: Pleuropulmonary blastoma (PPB) is a rare, aggressive dysontogenetic neoplasm affecting children. It was identified as a distinct entity by Manivel in 1988 and later subdivided into three types on the basis of the histological pattern, with increasing malignancy from type I (cystic) through type II (solid/cystic) to type III (solid). OBJECTIVE: To report on the imaging findings, clinical presentation, and differential diagnosis, mainly cystic malformations. MATERIALS AND METHODS: We evaluated three children, age 2-4 years, with PPB. RESULTS: One patient presented with unresolving pneumothorax and a multicystic mass, another with a mixed fluid/solid lesion, and the last with a solid heterogeneous mass. CONCLUSION: Despite its rarity, PPB should be considered in the evaluation of cystic or solid masses in children with respiratory distress. Plain film radiography alone is unable to distinguish between PPB and cystic malformations. CT represents the gold standard, although MRI can show the imaging features of solid enhancing nodules inside fluid-filled cavities, a mass causing lung compression, mediastinal shift, frequent pleural effusion, and no chest wall invasion. No preoperative imaging can reliably differentiate between congenital cystic lesions and PPB type I.

Isolated tubal torsion: a rare cause of pelvic pain at menarche. Sonographic and MR findings.

Isolated torsion of the fallopian tube is a rare clinical entity, especially in adolescents and at menarche. The diagnosis is essentially made at laparoscopy or at laparotomy because of nonspecific clinical signs. We present a case of isolated tubal torsion in a 12-year-old girl a few days after menarche, highlighting the sonographic and MR findings. Both techniques demonstrated the enlarged and tortuous fallopian tube with normal ovaries and uterus, but MR was also able to characterize contained blood and absent vascular supply. Although this condition is uncommon it should be considered as a cause of acute pelvic pain in adolescents because of the possibility of salvage surgery with early diagnosis. Sonography and MRI have a complementary role in this diagnosis.

Sonographic biometry of liver and spleen size long after closure of abdominal wall defects.

UNLABELLED: Little is known about the fate of the liver and spleen after closure of the abdominal cavity in patients with abdominal wall defects (AWD). Therefore, counselling families for long-term follow-up and in the case of surgery for acute disease, pregnancy or trauma may be difficult. A total of 18 patients ranging in age from 7 to 18 years, with AWD closed at birth, underwent ultrasound evaluation of liver and spleen size by determination of the index of liver size (ILS) and splenic volume (SV). These values were then correlated with some anthropometric parameters such as body mass index (BMI) and weight; correlation was also sought with some clinical features such as type of defect and direct or staged closure. Nearly all subjects exhibited weight above and BMI below the 50th percentile for age. ILS and SV were significantly above normal limits in all cases and no difference was found with regard to the type of defect. CONCLUSION: In patients having undergone surgery for abdominal wall defects, liver and spleen usually regain their normal shape and position even though size and volume appear to be larger than in normal controls.