Clinical spectrum and outcome of children with deficiency of adenosine deaminase 2 (DADA2): multicentric experience from India.

OBJECTIVES: Deficiency of adenosine deaminase-2 (DADA2) is a monogenic disorder closely resembling polyarteritis nodosa (PAN) and can present to physicians across various specialties. Through this case series, we aim to describe the clinical spectrum and outcome of Indian children with DADA2. We aimed to study the clinical spectrum and outcome of Indian children with DADA-2. METHODS: The deidentified data from all participating centres were entered in an excel sheet, and the coordinating centre (All India Institute of Medical Sciences, New Delhi) screened the data for accuracy and completeness. RESULTS: We enrolled 16 children (11 females) in the study; the mean (SD) age at the time of onset of symptoms for males and females was 46.2 (47) and 73.6 (50.4) months, respectively. The most common clinical feature in this cohort was fever and rash in 80% of patients. More than half of children n, (%) [8, (53%)] had a CNS stroke. The other clinical features were hypertension [5(33%)], anaemia [3 (20%)] and arthralgia/arthritis in 4 (26%). These children were managed with various immunomodulators: steroids [13, (86%)], anti-TNF agents [(12, (80%)], cyclophosphamide [2 (13%)] and mycophenolate mofetil [3 (20%)]. The median (IQR) duration of follow-up for this cohort was 17 (10, 29) months. Fourteen children achieved remission and none had recurrent strokes after the initiation of anti-TNF drugs. CONCLUSION: DADA-2 closely resembles PAN; early age of onset and CNS stroke are striking differentiating features from classic PAN. Most children respond well to anti-TNF agents without serious adverse events during short-term follow-up.

Ischemic stroke as a presenting feature of promyelocytic blast phase in chronic myeloid leukemia - an uncommon presentation: a case report and literature review in the post imatinib era.

Chronic myeloid leukemia (CML) is a myeloproliferative neoplasm (MPN characterized by reciprocal translocation in the ABL1 and BCR region of chromosomes 9 and 22 respectively. Progression to the blast phase in chronic myeloid leukemia results in a poorer prognosis. It can be of either myeloid, lymphoid or a mixed lineage. Progression to the promyelocytic blast phase is very rare, and there are no evidence-based guidelines for its management. Thrombosis in CML is not well defined. Thrombosis can be seen in patients with acute promyelocytic leukemia (APL) with venous thrombosis (VTE) being more common than arterial thrombosis. Ischemic stroke as the presenting feature of blast phase progression in CML is extremely rare. We report a case of CML who presented to us with acute ischemic stroke and subsequently was diagnosed as CML transformed to the promyelocytic blast phase. She was successfully treated with dasatinib along with all-trans retinoic acid (ATRA) and arsenic trioxide (ATO).

Ultrasound in Causes of Stridor in Children.

Airway ultrasound (US) is an easily available, portable, radiation-free imaging modality for quick, non-invasive, dynamic evaluation of the airway without sedation. This is useful in children with stridor, which is an emergency due to upper airway obstruction requiring immediate management. Several causes of stridor including laryngomalacia, laryngeal cyst, subglottic hemangioma, vocal cord palsy, and lymphatic malformations can be evaluated accurately. Thin musculature and unossified cartilages in children provide a good acoustic window. Thus, airway US is valuable, but underutilized for the evaluation of children with stridor. In this case-based review, we describe the technique, indications, anatomy, and pathologies on airway US.

Pediatric hemoptysis: diagnostic and interventional challenges.

Hemoptysis in the pediatric population, while infrequent, poses significant challenges for both the family and healthcare practitioners. The severity of hemoptysis dictates management decisions. Most cases being mild and self-limiting are treated conservatively. However, "life-threatening hemoptysis" may occur, and is defined as any degree of blood loss that endangers the airway and is arbitrarily considered to be > 8 ml/kg in 24 h in children. It requires prompt airway management and resuscitation followed by a tailored approach consisting of bronchoscopy, computed tomography (CT), interventional radiology, and/or surgery depending on the patient 's clinical status and cardiopulmonary comorbidities. Bronchial arteries are hypertrophied in myriad conditions and account for 90-95% cases of hemoptysis due to their systemic pressure levels; the rest being contributed by pulmonary artery pathologies. Despite similar pathogenic mechanisms, the etiologies of pediatric hemoptysis differ from those in adults, with acute lower respiratory tract infections being the predominant cause. Imaging plays a crucial role in identifying the source and cause of hemorrhage. Multidetector computed tomography (MDCT) has emerged as a prime modality in the diagnostic evaluation of hemoptysis and provides a roadmap for potential interventional procedures. This article discusses the etiopathogenesis of hemoptysis along with a brief mention of the diagnostic modalities. It provides a structured reporting format and uses it to illustrate the imaging features in hemoptysis, with emphasis on CT angiography. The key findings in the lung parenchyma, airways, bronchial and non-bronchial systemic collaterals, and pulmonary arteries are elaborated upon. It further addresses the nuances of interventional management, particularly emphasizing the applications of bronchial artery embolization and pulmonary artery embolization in the pediatric population. The article also underscores the potential complications and factors influencing recurrence rates.

Endemic pediatric fungal infections in India: clues to diagnosis.

This review is intended to familiarize readers with an emerging group of fungal infections that mostly manifest in immunocompetent individuals. This group was initially considered endemic to the tropics, but increasing worldwide prevalence has been reported. The organisms have been divided into dominant non-invasive forms and dominant invasive forms for ease of understanding. The non-invasive organisms include the group Entomophthoromycota, under which two genera Basidiobolus and Conidiobolus, have been identified as human pathogens. They present with plaques in the extremities and rhinofacial region, respectively. The invasive organisms are dematiaceous fungi (phaeohypomycosis), which includes Cladophialophora and Exophiala among others. They cause invasion of deep tissues, with the central nervous system being the most common target. The mycology, epidemiology, diagnosis, and treatment options have been summarized in brief. The clinical presentation, imaging manifestations, differentiation from other common infections and malignancies that show similar features have been detailed.

Kawasaki disease or polyarteritis nodosa: coronary involvement, a diagnostic conundrum.

Polyarteritis nodosa (PAN) is a medium-vessel vasculitis presenting with cutaneous and multisystem involvement with considerable morbidity. The necrotizing vasculitis in PAN typically involves renal, celiac, and mesenteric vascular beds. Coronary artery involvement is a characteristic feature of Kawasaki disease, another medium-vessel vasculitis; however, it has been rarely reported with PAN. Here, we present 2 cases with PAN involving coronaries mimicking Kawasaki disease. A 3.5-year-old boy with classical features of Kawasaki disease with giant coronary aneurysm refractory to IVIg, methylprednisolone, infliximab presented with persistent rise in inflammatory markers and gastrointestinal bleeding. Digital subtraction angiography (DSA) revealed celiac artery branches stenosis and beading suggestive of PAN. Another 2-year-old girl presented with persistent fever, abdominal pain, and distension. She had hypertension, hepatomegaly, and splenomegaly on examination. Echocardiography revealed multiple coronary aneurysms and DSA revealed numerous renal artery aneurysms. Coronary aneurysm although is a rare presentation of childhood PAN, and can mimic Kawasaki disease. Although both are medium-vessel vasculitis differentiation between these two entities is pivotal, as there are differences in treatment modalities, duration of immunomodulatory therapy, and the outcome. This manuscript describes the salient differences which can help differentiate PAN masquerading as Kawasaki disease at initial presentation.

Outcome and Determinants of Neutropenic Enterocolitis in Pediatric Cancer Patients.

BACKGROUND: Neutropenic enterocolitis (NEC) is a dreaded complication of chemotherapy. There is scant literature regarding incidence, clinical features, and determinants. The understanding of gut dysbiosis in NEC and pediatric cancer is evolving. METHODS: Pediatric cancer patients with neutropenia and gastrointestinal symptoms were evaluated for NEC with contrast-enhanced computed tomography abdomen. Clinical, imaging, and laboratory features were analyzed. Fecal samples were analyzed for fecal calprotectin by sandwich enzyme-linked immunoassay and gut microbiota by conventional culture and compared with healthy controls and children without NEC. RESULTS: NEC was diagnosed in 44 children based on clinical and imaging features with incidence of 7.4% (4 had recurrent episodes). Common manifestations included fever (98%), pain abdomen (88%), and diarrhea (83%). Hypoalbuminemia was observed in 78% of patients. Large bowel involvement (94%) with diffuse bowel involvement (63%) and pancolitis (64%) were common. Fecal calprotectin was significantly elevated in NEC group than non-NEC group and healthy controls (median: 87, 53, and 42 µg/g, respectively). A higher degree of gut dysbiosis was observed in children with NEC with higher isolation of Bacteroides and infrequent isolation of Lactobacilli. Mortality rate of 23% was observed. Only the presence of free fluid predicted higher mortality. Though levels of fecal calprotectin and gut dysbiosis were higher in NEC, they did not increase mortality. Isolation of Bacteroides and absence of Lactobacilli predicted a longer duration of intravenous alimentation. CONCLUSIONS: NEC caused significant morbidity and mortality in pediatric cancer patients. Gut dysbiosis was significantly higher in NEC group suggesting a role in pathogenesis and influencing outcome. This highlights the role of targeted interventions towards gut dysbiosis like prebiotics and probiotics.

Role of computed tomography angiography in the evaluation of haemoptysis in children: Decoding the abnormal vessels.

Background & objectives: Haemoptysis in children is potentially life-threatening. In most cases, the bleeding arises from the systemic circulation, and in 5-10 per cent of cases, it arises from the pulmonary circulation. The role of computed tomography angiography (CTA) in this setting is important. This study was undertaken (i) to study the role of single-phase split-bolus dual energy contrast-enhanced multidetector row CTA (DECTA) in the evaluation of haemoptysis in children; (ii) to analyze the patterns of abnormal vascular supply in the various aetiologies encountered. Methods: A retrospective study of 86 patients who underwent split bolus DECTA for the evaluation of haemoptysis was performed. Final diagnoses were categorized as normal computed tomography, active tuberculosis (TB), post-infectious sequelae, non-TB active infection, cystic fibrosis (CF), non-CF bronchiectasis, congenital heart disease (CHD), interstitial lung disease, vasculitis, pulmonary thromboembolism and idiopathic pulmonary haemosiderosis. Abnormal bronchial arteries (BAs) and non-bronchial systemic collateral arteries (NBSCs) were assessed for number and site and their correlation with underlying aetiologies. Results: A total of 86 patients (45 males, age from 0.3 to 18 yr, mean 13.88 yr) were included in the study; among these only two patients were less than five years of age. The most common cause of haemoptysis was active infection (n=30), followed by bronchiectasis (n=18), post-infectious sequelae (n=17) and CHD (n=7). One hundred and sixty five abnormal arteries were identified (108 BA and 57 NBSC), and were more marked in bronchiectasis group. Interpretation & conclusions: Active infections and bronchiectasis are the most common causes of haemoptysis in children. While post-infectious sequelae are less common, in patients with haemoptysis, the presence of any abnormal arteries correlates with a more frequent diagnosis of bronchiectasis. NBSCs are more common in post-infectious sequelae and CHD.

Ultrasonography in the Evaluation of Pediatric Chest "Masses": When to Consider?

Thoracic ultrasound is radiation-free, easily available, portable modality with added advantage of real-time assessment. It is useful in mediastinal lesions and peripheral lung, pleural and chest wall masses. Not only is it a valuable modality in differentiating solid from cystic lesion, it can also depict internal architecture without the use of contrast material. The added advantages of its use in children are the lack of ionizing radiation, and no need for sedation or general anesthesia in most cases. Although it has its limitations with a longer learning curve, it can act as a second-line modality to chest radiograph and adjunctive modality to CT in cases of a thoracic mass in a child.

Transcutaneous Mediastinal Ultrasonography for Lymphadenopathy in Children: A Pictorial Essay of Technique and Imaging Findings.

Ultrasonography (US) forms the mainstay of imaging in children; however, in the chest, its use has traditionally been limited to evaluation of pleural pathology. US techniques such as endobronchial and endoscopic ultrasound, which are commonly used for detection of mediastinal lymphadenopathy are invasive, aerosol generating, and often require sedation. Transcutaneous mediastinal sonography (TMUS) offers a useful alternative, which is easier to perform and overcomes these limitations. In this review, we summarize the technique, as well as imaging appearances of lymph nodes on TMUS. We also list common problems faced by operators and suggest troubleshooting methods for these.

Pediatric lung ultrasonography: current perspectives.

Ultrasonography (US) is the workhorse of pediatric imaging; however, lung US is only a recently developed application. US of the lung is based predominantly on the imaging of chest wall-air-fluid interfaces. In this review, we summarize the available literature on applications of lung US in neonatal as well as pediatric care. We describe the imaging appearance of various commonly encountered pathologies including pneumonia and respiratory distress syndrome, among others, and provide illustrative images. Finally, we describe the limitations of the technique that are essential knowledge for radiologists, critical care physicians, sonographers and technologists attempting to use lung US effectively for diagnosis and management.

Ingestion poisoning related lung injury- a pictorial review.

Poison ingestion is a medical emergency requiring immediate care in the emergency department. Respiratory symptoms with ingested poisons can occur due to aspiration, cardiopulmonary effects, or direct lung toxicity due to injury of the alveolar epithelium. Chest imaging (chest radiographs/CT) is usually performed in the emergency setting to evaluate such symptoms. It is often impossible to elicit the nature of the poison ingested by the patients due to their unconscious state. Identification of the culprit poison can expedite the patient's management towards a specific antidote or help understand the underlying mechanism causing the pulmonary symptoms. The imaging manifestations depend on the underlying mechanisms, varying for each ingested poison, forming an imaging signature which has not been adequately discussed in existing literature. Poisons like paraquat and organophosphate are important to differentiate as indiscriminate use of oxygen therapy in the former can exacerbate the lung injury caused by redox cycling. In this pictorial assay, we present the chest imaging spectrum of commonly ingested poisons, and further suggest algorithmic approach towards identification of common poisons based on their chest imaging.

Comparison of Cisplatin Monotherapy and PLADO in the Management in Children with Standard-Risk Hepatoblastoma in a Resource-Challenged Nation.

Background: Recent SIOPEL studies have shown cisplatin monotherapy to be equally effective in management of Standard risk Hepatoblastoma (SRHB)as compared to PLADO. Aims and Objectives: To study the chemotherapy, response and outcomes in children with SRHB. Material and Methods: A retrospective study was conducted and all children with SRHB who presented to us from June 2007 to December 2017 were included. All patients with standard risk hepatoblastoma who had received at least 2 cycles of chemotherapy were included. Data regarding the demographics, PRETEXT stage, chemotherapy, response to chemotherapy and outcomes were recorded. Kaplan Meier survival analysis was performed to calculate 5 year overall survival (OS) and event free survival (EFS). Results: Thirty two children were included in the study. The disease was PRETEXT I in 5 (15.6%), II in 9 (28.1%) and 18 (56.2%). Nineteen children (59.4%) received Cisplatin monotherapy and of these 6 patients (all PREXT III) had poor response and the chemotherapy was upgraded to PLADO. The remaining 13 (40.6%) received upfront PLADO chemotherapy. Only 31 patients could be operated. Tumor recurred in 5 patients, 2 who had upfront PLADO and 3 patients had been upgraded to PLADO. The 5 year OS and EFS was 100% in the monotherapy group (n=13), 92% and 69% in the upfront PLADO group (n=13), and 62% and 22% in the upgraded to PLADO group (n=6). Patients with PRETEXT III disease in whom chemotherapy was upgraded to PLADO had significantly lower survival (p=0.036) compared to those who received upfront PLADO chemotherapy. Conclusion: Two thirds of patients with PRETEXT stage III who received cisplatin monotherapy showed poor response and were upgraded to PLADO chemotherapy. These patients had a significantly poorer outcome compared to the rest of the cohort. PRETEXT stage III standard-risk hepatoblastoma may benefit from PLADO chemotherapy instead of cisplatin monotherapy.

Comparison of Non-Operative Mesotherapy and Surgery in the Management of Superficial Lipomas.

BACKGROUND: Lipomas are benign adipocytic tumours. Surgical excision is the gold standard for treating such lipomas, but it results in unaesthetic scarring. METHODS: A total of 126 patients were randomised into two groups. The patients in Group A underwent mesotherapy (n = 66) and those in Group B underwent surgery (n = 60). The patients in Group A group received six sessions of mesotherapy treatment at 2-week intervals. Both groups were followed up for 12 weeks, during which they were assessed for complications arising from treatment, reduction of the size of the lipoma and cosmetic outcomes. RESULTS: The overall mean age of the patients was 32.93 (± 10.1) years old and the mean volume of the lipomas was 2.29 (± 3.8) mL. A 55.86% (P = 0.0032) mean reduction in the volume of lipomas was noted in the patients who received mesotherapy, while one patient showed a gain of 16% by volume. The patients in Group A (cosmetic score ≥ 4: 63%) were happier with the treatment than those in Group B (cosmetic score ≥ 4: 21%). CONCLUSION: Our findings indicate that mesotherapy modestly reduces the volume of lipomas with very few and minor complications and excellent cosmetic outcomes.

Primary Pulmonary Tumors in Pediatric Population: Imaging Markers for Predicting Histology.

OBJECTIVES: The objective of the study was to review the imaging features of proven pediatric primary lung tumors, with a purpose of detecting key distinguishing features among the various entities. MATERIALS AND METHODS: We retrospectively reviewed multidetector computed tomography (CT) images of 17 pediatric patients with primary lung tumors. For each examination, various CT image descriptors were used to characterize the pulmonary nodules/masses; including location, size, number, morphology, cavitation, calcification, intense enhancement, airway involvement, chest wall/pleural involvement, mediastinal/vascular involvement, and nodal enlargement. RESULTS: The age of the patients ranged from 2 to 18 years (mean age of 9.5 years). Approximately 35.3% of tumors were benign and 64.7% were aggressive/malignant. Nine distinct histopathologic tumor entities were found. Common tumor types were recurrent respiratory papillomatosis (4) and inflammatory myofibroblastic tumor (4) with two endobronchial tumors including carcinoid and mucoepidermoid carcinomas. Besides invasion and nodal enlargement, large size and central location (P < 0.05) were predictors of aggressiveness/malignancy. Multiple lesions and cavitation (P < 0.05), on the other hand, were frequent in benign lesions. CONCLUSION: On imaging, location and morphological markers can allow diagnosis in majority of the tumors.

Mediastinal Pancreatic Pseudocyst in Children: A Case Report and Review of Literature.

Mediastinal pancreatic pseudocyst (MPP) is an infrequent complication of acute pancreatitis in children. A contrast-enhanced computed tomogram (CECT) of the chest and abdomen can aid in diagnosing pleural effusion and MPP. We describe a child with MPP in whom a transcutaneous computed tomogram-guided external drainage was curative. The case is being presented, and the relevant literature is highlighted in view of rarity of this entity.

Bowel Excretion of Technetium-99mL, L-Ethylene Dicysteine Masquerading as a Dilated Ureter in a Case of Pelvi-Ureteric Junction Obstruction: Case Report and Review.

The treatment plan and the decision for surgery in a significant proportion of patients with pelvi-ureteric junction (PUJ) obstruction type of hydronephrosis are dependent on the findings of renal scintigraphy. We report a case of a 3.5-year-old girl with right-sided PUJ obstruction, wherein the tracer excretion into the cecum and ascending colon complicated the clinical picture thereby misleading the final diagnosis or treatment plan and blurring the distinction between hydronephrosis and hydroureteronephrosis. Additional investigations may be required in such cases to reach a conclusion. The authors considered reporting this case in view of the deep-rooted clinical implications toward making a correct diagnosis. Besides, the possible mechanisms to explain the presence of the tracer inside the bowel have been discussed.

Previously Undescribed Anomalies of Hepatic Artery and Portal Venous Anatomy in a Case of Extrahepatic Biliary Atresia and its Implications.

A search on PubMed and Web of Science revealed scarcity of the literature on anomalies of hepatic artery or portal vein and the presence of arterioportal fistula in biliary atresia; although, it has long-lasting implications for both the patient and the surgeon, including hepato-pancreato-biliary surgeons, pediatric surgeons (who perform Kasai's portoenterostomy), liver transplant surgeons, and interventional radiologists. We report a case of extrahepatic biliary atresia with multiple anomalies involving the hepatic arteries, portal vein, cystic artery, arterioportal fistula and shunting, intrahepatic portal vein radicals, kidney, and external genitalia. The merits of the case from various standpoints including its implications for etiopathogenesis, caution during surgical anesthesia or postoperative management, and enrichment of the literature have been discussed.