Neha Thakur

Anemia in severe acute malnutrition

OBJECTIVES India has the highest prevalence of severe acute malnutrition (SAM). Severe anemia is one of the comorbidities responsible for increased mortality in severely malnourished children, yet it has not received the attention it should. The aim of the present study was to determine the prevalence and type of anemia and to evaluate the possible etiologies for severe anemia, in these children. METHODS A cross-sectional study of patients with SAM in a tertiary care hospital in northern India over a period of 12 mo from Sept. 1, 2010 to Aug. 31, 2011 was conducted. We observed the prevalence of severe anemia (hemoglobin < 7 g/dL), morphologic type of anemia, number of patients requiring blood transfusion, hematologic profile of mothers, nature of feeding, duration of exclusive breastfeeding, and the demographic profile of these patients. RESULTS Included in the study were 131 cases of SAM. The age group varied between 6 and to 59 mo. Of patients with SAM, 67.3% had severe anemia; 13.8% had moderate anemia. Of these patients, 25% required packed red blood cell transfusion. The most common type of anemia was microcytic (38.6%) followed by megaloblastic (30.5%). CONCLUSIONS A high incidence of severe anemia in SAM with a large proportion (25%) requiring blood transfusion is a pointer toward nutritional anemia being a very common comorbidity of SAM requiring hospital admission. Because megaloblastic anemia closely followed microcytic anemia, supplementation with vitamin B12 in addition to iron and folic acid would be recommended.

Leukocyte adhesion defect type 1 presenting with recurrent pyoderma gangrenosum.

Leukocyte adhesion deficiency 1 (LAD-1) is a rare autosomal recessive disorder of leukocyte function. LAD-1 affects about 1 per 10 million individuals and is characterized by recurrent bacterial and fungal infections and depressed inflammatory responses despite striking blood neutrophilia. Patients with the severe clinical form of LAD-1 express <0.3% of the normal amount of the β2-integrin molecules, whereas patients with the moderate phenotype may express 2-7%. Skin infection may progress to large chronic ulcers with polymicrobial infection, including anaerobic organisms. The ulcers heal slowly, require months of antibiotic treatment, and often require plastic surgical grafting. The diagnosis of LAD-1 is established most readily by flow cytometric measurements of surface CD11b in stimulated and unstimulated neutrophils using monoclonal antibodies directed against CD11b. Pyoderma gangrenosum (PG) is an uncommon condition characterized by recurrent sterile, inflammatory skin ulcers. Commonly, PG occurs in the context of inflammatory bowel disease or rheumatic, hematologic, or immunologic disorders. Here, we present a 5-year-old female with a long history of PG, which healed with atrophic scarring, who was ultimately diagnosed with leukocyte adhesion deficiency type 1 (LAD1). She had a good response to high-dose prednisone therapy (2 mg/kg) and was discharged after 3 weeks of admission but only to be re-admitted 3 weeks later with severe pneumonia. During hospital stay, she developed pneumothorax and pneumomediastinum and later succumbed to her illness.

Congenital CMV with LAD type 1 and NK cell deficiency.

We report a rare case of congenital cytomegalovirus (CMV) in a patient who was subsequently diagnosed as leukocyte adhesion defect type 1 with natural killer cell deficiency. The clinical course was complicated by severe CMV pneumonitis during the newborn period. Thereafter the infant suffered from recurrent skin infections without pus formation, otitis media, and bronchopneumonia since 3 months of age. The patient had congenital CMV infection as urine and blood plasma was positive for CMV from day 12 onward. Neutrophil chemotaxis studies showed a decrease in directed chemotaxis. Neutrophils were dyspoetic and nonfunctional lacking HLA DR, CD11c, and CD18. Lymphocytes were polyclonal but lacked CD56, CD16, and surface membrane immunoglobulin.

Pediatric Lupus Nephritis-Review of Literature.

Systemic lupus erythematous (SLE) is a multisystem autoimmune disorder characterized by immune dysregulation and formation of autoantibodies. A high index of suspicion is necessary to diagnose SLE. Children have more systemic involvement than adults. Kidney involvement is seen in a significant proportion of children. With advancement of therapy the survival rate of patients with SLE has significantly improved. Even then lupus nephritis is still the most important predictor of morbidity and mortality. Treatment of lupus nephritis is mostly derived from studies in adults as data on children is still lacking. Prednisolone and cyclophosphamide was the mainstay of treatment till now. Recently drugs like mycophenolate mofetil, azathioprine, rituximab are also being used in treatment of lupus nephritis with promising results and without significant adverse effects. In this review we will be discussing lupus nephritis, its diagnosis, pathogenesis, clinical picture and treatment advancements.

An evidence-based approach to evaluation and management of the febrile child in Indian emergency department

Fever is the most common complaint for a child to visit hospital. Under the aegis of INDO-US Emergency and Trauma Collaborative, Pediatric Emergency Medicine chapter of Academic College of Emergency Experts in India developed evidence-based consensus for evaluation and management of febrile child in emergency department. An extensive literature search and further online communication of the group led to the development of a detailed approach for the evaluation and management of individual conditions associated with fever. To develop an approach to individual conditions presenting with fever, that is, best suited to the epidemiology prevalent in India. The algorithmic approach given by the group describes in details the evaluation and management of specialized and individual conditions like fever and immunocompromised state, fever with localizing signs that include fever with seizures, cough, ear discharge, loose stools, rash and dysuria; fever without localization with epidemiological evidence supporting diagnosis such as malaria, enteric fever and dengue; and fever without any localization and no epidemiological evidence supporting the diagnosis.

Consensus guidelines on evaluation and management of the febrile child presenting to the emergency department in India

JustificationIndia, home to almost 1.5 billion people, is in need of a country-specific, evidence-based, consensus approach for the emergency department (ED) evaluation and management of the febrile child.ProcessWe held two consensus meetings, performed an exhaustive literature review, and held ongoing web-based discussions to arrive at a formal consensus on the proposed evaluation and management algorithm. The first meeting was held in Delhi in October 2015, under the auspices of Pediatric Emergency Medicine (PEM) Section of Academic College of Emergency Experts in India (ACEE-INDIA); and the second meeting was conducted at Pune during Emergency Medical Pediatrics and Recent Trends (EMPART 2016) in March 2016. The second meeting was followed with futher e-mail-based discussions to arrive at a formal consensus on the proposed algorithm.ObjectiveTo develop an algorithmic approach for the evaluation and management of the febrile child that can be easily applied in the context of emergency care and modified based on local epidemiology and practice standards.RecommendationsWe created an algorithm that can assist the clinician in the evaluation and management of the febrile child presenting to the ED, contextualized to health care in India. This guideline includes the following key components: triage and the timely assessment; evaluation; and patient disposition from the ED. We urge the development and creation of a robust data repository of minimal standard data elements. This would provide a systematic measurement of the care processes and patient outcomes, and a better understanding of various etiologies of febrile illnesses in India; both of which can be used to further modify the proposed approach and algorithm.

Case Series of all three typesof Ushers Syndrome of varyingseverity in the same family

Introduction: Ushers syndrome is an autosomal recessive disorder characterized by hearing loss and visual impairment due to retinitis pigmentosa. There are three types of Ushers syndrome with decreasing order of severity. Type 1 has onset of illness at birth with rapid progression of symptoms. Type 2 has gradual onset of symptoms with moderate hearing loss and later onset of night vision problems. Type 3 is the least severe form with onset of symptoms at late teenage. Case Series: We report here four siblings with Ushers. The first and second child had clinical symptoms suggestive of type1 Ushers. Third child has clinical features of Type 3 Ushers. Fourth child who had presented to us was having clinical features supportive of type 2 Ushers. There was a family history of similar symptoms in their cousin brother. All the four siblings were product of consanguineous marriage. Their mother was suffering from discoid lupus erythematosus. Conclusion: Timely diagnosis of Ushers could have decreased the morbidity of these children. Universal Screening for newborn hearing at birth will help in early detection of children with hearing loss and associated syndromes. Cochlear implantation is the only treatment in Ushers and earlier the implantation better is the prognosis. Hence in developing countries like India where genetic diagnosis is not possible most of the times due to financial constraints we can at least implement programs like hearing screening at birth.

Case series of spondylocostal dysostosis and associated congenital malformations

Spondylocostal dysostosis (SCD) is a rare anomaly of axial skeleton due to flawed embryological development characterized by malformed ribs, fused ribs, and hemivertebra. Case one: A newborn baby boy with right-sided polythelia, meningocele, fan-like configuration of 3 rd and 4 th rib, fused 5 th and 6 th rib, and 3 rd thoracic hemivertebra was delivered to a second gravid mother by elective cesarean section. Based on clinical examination and radiological picture, a diagnosis of SCD with meningocele with right-sided polythelia was made. Case two: Baby girl born to primigravida mother by cesarean section had hemivertebrae with multiple right-sided rib defects, short neck, preauricular ear tags, imperforate anus, and rectovaginal fistula. Very few cases of SCD have been reported in literature with neural tube defects (NTDs) with supernumerary nipple, none from developing country. Till now, there is limited literature regarding the associations of SCD none showing its association with the genitourinary system without NTDs. We need to study the causal associations of SCD with detailed genetic work up as it is not so uncommon as presumed.

Spondylocostal dysostosis associated with right-sided polythelia, right-sided rib deformity and meningocoele: Case report with review of literature

Spondylocostal dysostosis (SCD) is a rare anomaly of axial skeleton due to flawed embryological development. A newborn baby boy with right-sided polythelia, meningocoele, fan-like configuration of third and fourth rib, fused fifth and sixth rib and third thoracic hemivertebra was delivered to a second gravid mother by elective caesarean section. Baby was active, cried immediately after birth, had normal muscle tone and reflexes. He passed urine and meconium within 24 h of birth. Based on clinical examination and radiological picture, a diagnosis of SCD with meningocele with right-sided polythelia was made. Our case is the first SCD with polythelia and meningocele in newborn. SCD with right-sided polythelia and rib deformity with neural tube defect (NTD) may be due to a genetic defect with the culprit genes missing. Further genetic and embryological studies might find a link between right-sided rib defects, polythelia and NTD.