Changing outcomes of stem cell transplantation in primary immunodeficiencies: Results from a tertiary-care charitable trust hospital in Mumbai.

Background: Hematopoietic stem cell transplantation in primary immunodeficiency disorders has come a long way since the first transplant in 1968. In India, pediatric stem cell transplantation long-term survival outcomes range from 62.5% to 75%, compared to 90% in high-income countries. Objective: We present single-center data of primary immunodeficiency transplants with immune-reconstitution evaluation after transplantation from a charitable trust hospital. Methods: Retrospective data of children transplanted for primary immunodeficiency disorders from March 2019 to March 2022 in a newly established transplant unit were collected. Data of pretransplant infections and comorbidities, surveillance for carbapenem-resistant Enterobacteriaceae, transplant characteristics, donor source, graft-versus-host disease, posttransplant infections, immune reconstitution, overall survival at 1 year, and immunodeficiency-free survival were collated. Results: Twenty-one patients underwent transplantation for primary immunodeficiency disorders. The median age at transplantation was 3 years and 5 months (range, 7 months to 17 years). Seventy-five percent of the cohort had organ involvement, with lung being the most common organ involved, followed by central nervous system. Fifty-two percent of children had peritransplant infections, with most of them recognized at the pretransplant assessment. Among 20 of 21 children with engraftment, 94% had complete chimerism initially, with 33% developing mixed chimerism over time. The median duration of immunosuppression was 3 months after transplantation, and only 1 child required systemic graft-versus-host disease treatment for more than a year. Immune-reconstitution showed good T-cell recovery at 3 months and naive T-cell production at 6 months. There was no regimen-related or sepsis-related mortality. Overall survival of the cohort was 95% at 1-year follow-up. Immunodeficiency-free survival was 86% after a median follow-up of 20 months. Conclusions: Immunodeficiency-free and graft-versus-host disease-free survival can be achieved in the majority of children with primary immunodeficiencies using enhanced supportive care and the latest transplantation algorithms.

Impact of Air Pollution on Allergic Rhinitis and Asthma: Consensus Statement by Indian Academy of Pediatrics.

JUSTIFICATION: Rising air pollution is an ever-growing threat to many human diseases. Poor air quality has been directly correlated with respiratory allergies with a disproportionate affection among the pediatric age group. A clear understanding of common air pollutants and their potential contribution in allergic rhinitis and asthma is lacking. OBJECTIVE: To formulate a consensus statement for appropriate understanding among pediatricians and general practitioners about the effects of air pollution on respiratory allergies and their prevention. PROCESS: A group of experts (Pediatric pulmonologists and allergy specialists) from across India were appointed by the Indian Academy of Pediatrics (IAP) to formulate a consensus statement on 'Allergy and Air pollution'. A virtual meeting was conducted on 6th April 2020 to discuss in detail regarding various issues related to the subject and a writing committee was formed with broad consensus. After extensive literature review and multiple virtual sessions, the current document was prepared and circulated via email to the representatives from central IAP and IAP environment chapter. All the experts approved the consensus with minor modifications after a detailed discussion on 29th September 2020 on a virtual platform. RECOMMENDATIONS: Air pollution is the emerging contributor to respiratory allergies due to various mechanisms including oxidative stress and compromised mucociliary clearance. Children are more vulnerable to both outdoor and indoor pollution, due to their unique physiological characteristics. Knowledge about pollutant particle size and air quality index will help in demarcating level and extent of airway involvement. Relevant environmental history in difficult allergic rhinitis and asthma cases, along with conventional pharmacological measures, is warranted. Multipronged approach, targeted at community, physician and individual levels, needs to be emphasized to improve air quality and reduce economic and psychological burden of respiratory allergies.

Maxillary myxoma misdiagnosed as tuberculosis.

We present here the case of a three-year-old girl with a maxillary myxoma misdiagnosed as tuberculosis (TB). She was referred to our TB clinic with fever for seven months and swelling of the left cheek and a positive Mantoux test. Her mother was also on treatment for TB lymphadenitis. The child had been commenced on anti-tuberculous therapy (ATT) two months before, and because of its unusual location of the swelling, we did a Caldwell-Luc procedure and a white gelatinous tissue was obtained which, on histopathological examination, revealed myxomatous tissue and no granulomas. TB culture was negative. The patient was then referred to the ENT department for surgical excision. We present this case, as not all swellings with positive Mantoux test or contact with TB are TB and it is essential to have a tissue diagnosis of TB to prevent unnecessary treatment with ATT drugs.

Enteric Fever Presenting as Hemorrhagic Shock due to Bleeding from Dieulafoy's Lesion.

Dieulafoy's lesion (DL) is an arteriole that protrudes through a tiny mucosal defect, usually within 6 cm of the gastroesophageal junction on the lesser curve of the stomach. Similar lesions have also been described in the distal esophagus, small intestine, colon, and rectum. Enteric fever has been reported as one of the cause of bleeding from DL of ileum in the past. The authors report a rare case of life threatening bleeding from DL of stomach in a child with enteric fever.

Isolated scapular involvement: uncommon presentation of childhood tuberculosis.

Scapular involvement in childhood tuberculosis (TB) is rare. To date, only eight cases are reported in the literature in children aged <18 years. We report a case of isolated scapular TB in a 7-year-old boy who presented with swelling and pain over right shoulder and was suspected to have malignancy based on the X-ray findings. Magnetic resonance imaging was suggestive of erosive lesion of whole scapula with normal shoulder joint, humerus and spine and conglomerate axillary lymph nodes. Histopathology and TB culture were diagnostics of TB. Patient was started on anti-TB treatment and doing well on follow-up.

Pulmonary alveolar proteinosis in a 10-year-old girl masquerading as tuberculosis.

Pulmonary alveolar proteinosis (PAP) is a rare pulmonary disease. Diagnosis is established by bronchoalveolar lavage (BAL), which has macroscopic 'milky appearance', and in the presence of typical computed tomography, findings are diagnostic of PAP but, however, the feature of periodic acid-Schiff-positive eosinophilic proteinaceous fluid raises the confidence of the diagnosis. We report late-onset PAP in a 10-year-old girl who had acid fast bacilli on an initial BAL examination, but was subsequently diagnosed as PAP.

Fetal valproate syndrome.

Antenatal use of anticonvulsant valproic acid can result in a well-recognized cluster of facial dysmorphism, congenital anomalies and neurodevelopmental retardation. In this report, we describe a case with typical features of fetal valproate syndrome (FVS). A 26-year-old female with epilepsy controlled on sodium valproate 800 mg/day since 3 years, gave birth to a male child with characteristic features of FVS. She also had 3 spontaneous first-trimester abortions during those 3 years. Sodium valproate, a widely used anticonvulsant and mood regulator, is a well-recognized teratogen that can result in facial dysmorphism, craniosynostosis, neural tube defects, and neurodevelopmental retardation. Therefore, we strongly recommend avoidance of valproic acid and supplementation of folic acid during pregnancy.