Pub Date : 2023-01-01DOI: 10.7199/ped.oncall.2023.22
Amrita Lal Halder, Md. Abid Hossain Mollah, Md. Abdullah Al Baki, Shareen Khan, J. Nahar, Sabrina Jasim
{"title":"The Sensitivity and Specificity of DPOAE (Distortion Product Otoacoustic Emission) Compared with ABR (Auditory Brain Stem Response Audiometry) in Neonatal Hearing Screening","authors":"Amrita Lal Halder, Md. Abid Hossain Mollah, Md. Abdullah Al Baki, Shareen Khan, J. Nahar, Sabrina Jasim","doi":"10.7199/ped.oncall.2023.22","DOIUrl":"https://doi.org/10.7199/ped.oncall.2023.22","url":null,"abstract":"","PeriodicalId":19949,"journal":{"name":"Pediatric Oncall","volume":"12 1","pages":""},"PeriodicalIF":0.0,"publicationDate":"2023-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"83791841","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2022-01-01DOI: 10.7199/ped.oncall.2022.28
Subhash Poyekar
Background: Acute poisoning is a common cause for morbidity and mortality in children. The profile and outcome in children with acute poisoning depend a lot on the socioeconomic status, cultural practices, parental education status and availability of health care. The present study was aimed to analyze the pattern and outcome of pediatric poisoning in rural area. Methodology: This is a retrospective study, conducted over a period of twenty-four months in a rural hospital attached to medical college. Results: The poisoning constituted 4.7% of total admissions in Pediatric Intensive Care Unit (PICU). Male: Female ratio was 1:33. 98(87.5%) of children were less than 5 years of age. Organophosphorus compounds were most commonly (n=55, 49.1%), responsible for poisoning, followed by kerosene (n=20, 17.9%). Thirty percent children had short stay in hospital i.e., less than 48 hours. Overall survival rate noted in the study was 91% (n=103). Conclusion: Poisoning in Pediatric age contributes to significant number of admissions to Pediatric Intensive Care Unit in rural area. Insecticide/Pesticides, Kerosene, and plants were leading causes of poisoning.
{"title":"Pattern and outcome of poisoning in children: A study from a rural teaching hospital, Western Maharashtra, India","authors":"Subhash Poyekar","doi":"10.7199/ped.oncall.2022.28","DOIUrl":"https://doi.org/10.7199/ped.oncall.2022.28","url":null,"abstract":"Background: Acute poisoning is a common cause for morbidity and mortality in children. The profile and outcome in children with acute poisoning depend a lot on the socioeconomic status, cultural practices, parental education status and availability of health care. The present study was aimed to analyze the pattern and outcome of pediatric poisoning in rural area. Methodology: This is a retrospective study, conducted over a period of twenty-four months in a rural hospital attached to medical college. Results: The poisoning constituted 4.7% of total admissions in Pediatric Intensive Care Unit (PICU). Male: Female ratio was 1:33. 98(87.5%) of children were less than 5 years of age. Organophosphorus compounds were most commonly (n=55, 49.1%), responsible for poisoning, followed by kerosene (n=20, 17.9%). Thirty percent children had short stay in hospital i.e., less than 48 hours. Overall survival rate noted in the study was 91% (n=103). Conclusion: Poisoning in Pediatric age contributes to significant number of admissions to Pediatric Intensive Care Unit in rural area. Insecticide/Pesticides, Kerosene, and plants were leading causes of poisoning.","PeriodicalId":19949,"journal":{"name":"Pediatric Oncall","volume":"1 1","pages":""},"PeriodicalIF":0.0,"publicationDate":"2022-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"82780691","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2022-01-01DOI: 10.7199/PED.ONCALL.2022.5
D. K. Tague, S. Nguefack, Fleurine Lekeulem Tebon, Francklin Tétinou, Nadia Adjifack Tetinou, F. Nguefack, E. Mah, A. Chiabi
Aim: To determine the long-term outcome of neonates with hypoxic-ischemic encephalopathy (HIE). Materials and Methods: This was a descriptive cross-sectional study carried over a period of 4 months from February 20 to May 22, 2018. We recruited consecutively 60 children aged 6 to 72 months who had survived HIE and had followed up in the outpatient department. Children born at term (≥37 weeks of amenorrhea) and who got an Apgar score = 7 at the 5th minute of birth and / or mild, moderate or severe encephalopathy were included in the study. The parameters studied included age, gender, schooling for those at school age, the Apgar score at the 5th minute of birth, the degree of encephalopathy according to Sarnat grade, the resuscitation maneuvers used at birth, the duration of resuscitation (in minutes), the duration of the neonatal hospitalization (in days) and the child’s pathologies during the neonatal hospitalization. Child’s vision, hearing and psychomotor development were assessed. Association between HIE severity and long-term outcome was assessed. Results: Total 60 children with male: female ratio of 2:1 were included in the study. The mean age was 36.4 ± 19.0 months. Twenty-seven (45%) children were at school age. However, 19 (70.37%) of these school age children were not in school. Co-morbidities seen were cerebral palsy in 47 (78.3%), epilepsy in 17 (23.3%), blindness in 4 (5.5%) and deafness in 3 (4.1%). The majority of children with a history of perinatal asphyxia were born in a borough health center 24 (40.0%). Psychomotor assessment was normal in 8 (13.3%) children, mild retardation in 2 (3.3%), moderate retardation in 16 (16.6%) children, severe retardation in 7 (11.6%) and profound in 27 (45.0%) children. Thirty-five (59%) children had grade 3 HIE, 20 (33.3%) had grade 2 HIE and 5 (8.3%) had grade 1 HIE. An Apgar score of between 3 and 4 was associated with profound mental delay (p=0.001). Children with Sarnat 1 HIE were at no risk of psychomotor retardation (p=0.001). Sarnat 3 HIE grade increased the risk of having profound psychomotor retardation (OR=13.2; p=0.01). Children resuscitated for more than 20 minutes were at significant risk of developing profound delay (OR=1000; p=0.002). Comorbidities strongly associated with profound psychomotor retardation were cerebral palsy (p=0.007) and epilepsy (p=0.001). Conclusion: The children presenting a severe HIE had a profound mental delay. The neurological sequelae found were mainly psychomotor retardation, cerebral palsy, epilepsy and neurosensory abnormalities. Introduction Psychomotor development reflects the cerebral maturation of the child through his motor acquisitions and his psychic progress (intelligence, language, and affectivity, etc.).1 The etiology of psychomotor retardation are mostly unknown; however, some potential causes can be found in the perinatal period.2 Perinatal asphyxia is defined as an impairment of gas exchange which, when persisted, leads to fetal hypoxemia an
{"title":"Long Term Outcome of Neonates with Hypoxic Ischemic Encephalopathy","authors":"D. K. Tague, S. Nguefack, Fleurine Lekeulem Tebon, Francklin Tétinou, Nadia Adjifack Tetinou, F. Nguefack, E. Mah, A. Chiabi","doi":"10.7199/PED.ONCALL.2022.5","DOIUrl":"https://doi.org/10.7199/PED.ONCALL.2022.5","url":null,"abstract":"Aim: To determine the long-term outcome of neonates with hypoxic-ischemic encephalopathy (HIE). Materials and Methods: This was a descriptive cross-sectional study carried over a period of 4 months from February 20 to May 22, 2018. We recruited consecutively 60 children aged 6 to 72 months who had survived HIE and had followed up in the outpatient department. Children born at term (≥37 weeks of amenorrhea) and who got an Apgar score = 7 at the 5th minute of birth and / or mild, moderate or severe encephalopathy were included in the study. The parameters studied included age, gender, schooling for those at school age, the Apgar score at the 5th minute of birth, the degree of encephalopathy according to Sarnat grade, the resuscitation maneuvers used at birth, the duration of resuscitation (in minutes), the duration of the neonatal hospitalization (in days) and the child’s pathologies during the neonatal hospitalization. Child’s vision, hearing and psychomotor development were assessed. Association between HIE severity and long-term outcome was assessed. Results: Total 60 children with male: female ratio of 2:1 were included in the study. The mean age was 36.4 ± 19.0 months. Twenty-seven (45%) children were at school age. However, 19 (70.37%) of these school age children were not in school. Co-morbidities seen were cerebral palsy in 47 (78.3%), epilepsy in 17 (23.3%), blindness in 4 (5.5%) and deafness in 3 (4.1%). The majority of children with a history of perinatal asphyxia were born in a borough health center 24 (40.0%). Psychomotor assessment was normal in 8 (13.3%) children, mild retardation in 2 (3.3%), moderate retardation in 16 (16.6%) children, severe retardation in 7 (11.6%) and profound in 27 (45.0%) children. Thirty-five (59%) children had grade 3 HIE, 20 (33.3%) had grade 2 HIE and 5 (8.3%) had grade 1 HIE. An Apgar score of between 3 and 4 was associated with profound mental delay (p=0.001). Children with Sarnat 1 HIE were at no risk of psychomotor retardation (p=0.001). Sarnat 3 HIE grade increased the risk of having profound psychomotor retardation (OR=13.2; p=0.01). Children resuscitated for more than 20 minutes were at significant risk of developing profound delay (OR=1000; p=0.002). Comorbidities strongly associated with profound psychomotor retardation were cerebral palsy (p=0.007) and epilepsy (p=0.001). Conclusion: The children presenting a severe HIE had a profound mental delay. The neurological sequelae found were mainly psychomotor retardation, cerebral palsy, epilepsy and neurosensory abnormalities. Introduction Psychomotor development reflects the cerebral maturation of the child through his motor acquisitions and his psychic progress (intelligence, language, and affectivity, etc.).1 The etiology of psychomotor retardation are mostly unknown; however, some potential causes can be found in the perinatal period.2 Perinatal asphyxia is defined as an impairment of gas exchange which, when persisted, leads to fetal hypoxemia an","PeriodicalId":19949,"journal":{"name":"Pediatric Oncall","volume":"37 1","pages":""},"PeriodicalIF":0.0,"publicationDate":"2022-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"84806142","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2022-01-01DOI: 10.7199/ped.oncall.2022.37
C. A. N. Kana, Rosette Boundjike Deugoue, F. Dongmo, D. Enyama, Diomède Noukeu, E. Mah, D. Kago, E. Mbonda, S. Nguefack
{"title":"Comorbidities in Children with Cerebral Palsy","authors":"C. A. N. Kana, Rosette Boundjike Deugoue, F. Dongmo, D. Enyama, Diomède Noukeu, E. Mah, D. Kago, E. Mbonda, S. Nguefack","doi":"10.7199/ped.oncall.2022.37","DOIUrl":"https://doi.org/10.7199/ped.oncall.2022.37","url":null,"abstract":"","PeriodicalId":19949,"journal":{"name":"Pediatric Oncall","volume":"120 1","pages":""},"PeriodicalIF":0.0,"publicationDate":"2022-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"85250938","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2022-01-01DOI: 10.7199/ped.oncall.2022.27
K. Kumaravel, S. Nithyalakshmi, P. Kumar, V. Anurekha, S. Gobinathan, P. Sampathkumar
{"title":"A case report of minor blood group incompatibility (anti c) in a neonate - Is there a need for routine maternal antibody screening?","authors":"K. Kumaravel, S. Nithyalakshmi, P. Kumar, V. Anurekha, S. Gobinathan, P. Sampathkumar","doi":"10.7199/ped.oncall.2022.27","DOIUrl":"https://doi.org/10.7199/ped.oncall.2022.27","url":null,"abstract":"","PeriodicalId":19949,"journal":{"name":"Pediatric Oncall","volume":"24 1","pages":""},"PeriodicalIF":0.0,"publicationDate":"2022-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"89429841","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2022-01-01DOI: 10.7199/ped.oncall.2022.44
Sara Completo, J. Vieira, P. Pinto, A. Dias, A. Sokolova
Biological drugs are becoming the standard of care in severe refractory allergic diseases. In the case of Omalizumab, it is indicated for severe asthma. Some biological drugs have unexpected effects related to hematotoxicity. Hereditary spherocytosis is a common cause of hereditary anemia, with heterogeneous manifestations influenced by multiple factors, as exposure to drugs. Our aim was to evaluate possible hematological effect of omalizumab in a case of hereditary spherocytosis. A 10-year-old boy with hereditary spherocytosis and severe asthma was started on Omalizumab due to several exacerbations and frequent need of oral corticosteroids, along with a decreased respiratory function. After six months, clinical improvement was observed. Simultaneously, there were no changes in hematological parameters. We report the first case of treatment with Omalizumab in a child with severe asthma and hereditary spherocytosis. In this study, this therapy appears to be safe in hemolytic anemia. Introduction Omalizumab is a recombinant DNA-derived humanized monoclonal antibody indicated in Step 5 treatment of asthma.1,2,3,4,5,6This biological drug has a specific connection to the constant region present on the surface of the molecule of Immunoglobulin E (IgE) Cɛ3, which will block the binding to its receptors (both high and low affinity), decreasing IgE levels in the bloodstream. This process will reduce the expression of the specific IgE receptors on inflammatory cells, such as mast cells and basophils, decreasing the release of inflammatory and allergic mediators. Omalizumab will act on dendritic cells as well, limiting the process of allergen presentation to T cells and, consequently, the cascade of the allergic reaction.1,2 Some biological therapies have shown unexpected effects related to hematotoxicity, such as thrombocytopenia, de novo immune hemolysis, or even the worsening of the previous anemia.7 Hereditary spherocytosis is a congenital, non-immune, hemolytic anemia, characterized by modifications of the red cell membrane. It is a common cause of hereditary anemia in children. Its clinical expression is heterogeneous, varying from silent chronic hemolysis to severe, transfusion-dependent forms. A broad range of factors can influence a worsening of the anemia, namely: infections, certain foods, deficiencies (vitamin B12, iron, folate) and oxidative drugs.8 There are no previous published data on the use of Omalizumab in patients with hemolytic hereditary anemias. This paper aimed to evaluate the possible effect of Omalizumab therapy, directed to the treatment of severe asthma, in a child with concomitant hereditary spherocytosis, and to ascertain any effects on hemolysis, given the underlying hemolytic anemia of the patient. For that, the authors collected clinical and laboratory data and compared them, before and after the periodic administration of Omalizumab. Case Report A ten-year-old boy (weight 30 kg, height 137 cm), with spherocytosis and asthm
{"title":"Omalizumab use in a patient with asthma and hereditary spherocytosis","authors":"Sara Completo, J. Vieira, P. Pinto, A. Dias, A. Sokolova","doi":"10.7199/ped.oncall.2022.44","DOIUrl":"https://doi.org/10.7199/ped.oncall.2022.44","url":null,"abstract":"Biological drugs are becoming the standard of care in severe refractory allergic diseases. In the case of Omalizumab, it is indicated for severe asthma. Some biological drugs have unexpected effects related to hematotoxicity. Hereditary spherocytosis is a common cause of hereditary anemia, with heterogeneous manifestations influenced by multiple factors, as exposure to drugs. Our aim was to evaluate possible hematological effect of omalizumab in a case of hereditary spherocytosis. A 10-year-old boy with hereditary spherocytosis and severe asthma was started on Omalizumab due to several exacerbations and frequent need of oral corticosteroids, along with a decreased respiratory function. After six months, clinical improvement was observed. Simultaneously, there were no changes in hematological parameters. We report the first case of treatment with Omalizumab in a child with severe asthma and hereditary spherocytosis. In this study, this therapy appears to be safe in hemolytic anemia. Introduction Omalizumab is a recombinant DNA-derived humanized monoclonal antibody indicated in Step 5 treatment of asthma.1,2,3,4,5,6This biological drug has a specific connection to the constant region present on the surface of the molecule of Immunoglobulin E (IgE) Cɛ3, which will block the binding to its receptors (both high and low affinity), decreasing IgE levels in the bloodstream. This process will reduce the expression of the specific IgE receptors on inflammatory cells, such as mast cells and basophils, decreasing the release of inflammatory and allergic mediators. Omalizumab will act on dendritic cells as well, limiting the process of allergen presentation to T cells and, consequently, the cascade of the allergic reaction.1,2 Some biological therapies have shown unexpected effects related to hematotoxicity, such as thrombocytopenia, de novo immune hemolysis, or even the worsening of the previous anemia.7 Hereditary spherocytosis is a congenital, non-immune, hemolytic anemia, characterized by modifications of the red cell membrane. It is a common cause of hereditary anemia in children. Its clinical expression is heterogeneous, varying from silent chronic hemolysis to severe, transfusion-dependent forms. A broad range of factors can influence a worsening of the anemia, namely: infections, certain foods, deficiencies (vitamin B12, iron, folate) and oxidative drugs.8 There are no previous published data on the use of Omalizumab in patients with hemolytic hereditary anemias. This paper aimed to evaluate the possible effect of Omalizumab therapy, directed to the treatment of severe asthma, in a child with concomitant hereditary spherocytosis, and to ascertain any effects on hemolysis, given the underlying hemolytic anemia of the patient. For that, the authors collected clinical and laboratory data and compared them, before and after the periodic administration of Omalizumab. Case Report A ten-year-old boy (weight 30 kg, height 137 cm), with spherocytosis and asthm","PeriodicalId":19949,"journal":{"name":"Pediatric Oncall","volume":"43 1","pages":""},"PeriodicalIF":0.0,"publicationDate":"2022-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"77920051","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2022-01-01DOI: 10.7199/PED.ONCALL.2022.20
Himali Meshram
Tuberculosis (TB) is a major health problem in our country. Though TB is highly prevalent in women of childbearing age, only few cases of congenital tuberculosis (TB) have been reported. We present a 21-day old child with congenital drug-resistant (DR) TB who was detected to have rifampicin resistance (RR) mycobacterium tuberculosis (MTB) on GeneXpert. Subsequently on screening the mother, she was detected to have pulmonary TB with sputum showing RR-MTB on GeneXpert. Introduction Tuberculosis (TB) is relatively common in pregnant women; the prevalence of active TB in pregnant and postpartum women from high burden countries is upper to 60 cases per 100,000 population per year and from low burden TB countries, the prevalence is lower to 20 cases per 100,000 population per year.1 Congenital TB is defined as TB occurring in infants as a result of maternal TB when the illness involves the genital track or the placenta.2 Less than 300 cases of congenital TB have been reported till now. Very few neonates with drug-resistant (DR) congenital TB have been reported. Espiritu et al reported a case of multidrug-resistant (MDR) tuberculosis (TB) in a Peruvian infant.3 Kulhari et al reported a 46-day old male infant with congenitally acquired MDR-TB.4 We present a 21-day old child with congenital DR-TB who was detected to have rifampicin resistance (RR) on GeneXpert. Unfortunately the child succumbed to his disease. Mother was subsequently detected to have pulmonary TB with sputum showing RR mycobacterium tuberculosis (MTB) on GeneXpert suggesting perinatal acquisition. Case Report A 21 day old male neonate first by birth order presented with fever, lethargy and poor feeding for 12 days. He was born to a 24 year old mother at term by normal vaginal delivery and had a birth weight of 2.2 kg. Mother had no illness in pregnancy. Child was started on breast-feeds. There was no history of TB in the family. On presentation, he was lethargic and weighed 2.3 kg. There was mild respiratory distress with no cyanosis or jaundice. Chest had bilateral crepts with normal heart sounds. He had hepatomegaly. Other systems were normal. Routine hematological investigations were normal with reactive CRP (81 mg/dl). Liver functions showed raised liver enzymes (AST=528 IU/L; ALT=347 IU/L) with normal bilirubin levels. Ultrasound of abdomen showed mild hepatomegaly. Initial chest radiograph showed bilateral miliary shadows in the lung fields (figure 1). Echocardiography showed trivial tricuspid regurgitation with normal biventricular function. Gastric lavage (GL) for acid fast bacilli (AFB) was negative on three occasions. Blood, urine and CSF cultures were sterile. He was treated with pipercillin-tazobactum and ciprofloxacin. Respiratory distress further increased and required oxygen supplementation. On eighth day of admission, he developed severe respiratory distress requiring invasive ventilatory support. Hematological test showed thrombocytopenia. Antibiotics were upgraded to mer
{"title":"Congenital Drug Resistant Tuberculosis in a Neonate","authors":"Himali Meshram","doi":"10.7199/PED.ONCALL.2022.20","DOIUrl":"https://doi.org/10.7199/PED.ONCALL.2022.20","url":null,"abstract":"Tuberculosis (TB) is a major health problem in our country. Though TB is highly prevalent in women of childbearing age, only few cases of congenital tuberculosis (TB) have been reported. We present a 21-day old child with congenital drug-resistant (DR) TB who was detected to have rifampicin resistance (RR) mycobacterium tuberculosis (MTB) on GeneXpert. Subsequently on screening the mother, she was detected to have pulmonary TB with sputum showing RR-MTB on GeneXpert. Introduction Tuberculosis (TB) is relatively common in pregnant women; the prevalence of active TB in pregnant and postpartum women from high burden countries is upper to 60 cases per 100,000 population per year and from low burden TB countries, the prevalence is lower to 20 cases per 100,000 population per year.1 Congenital TB is defined as TB occurring in infants as a result of maternal TB when the illness involves the genital track or the placenta.2 Less than 300 cases of congenital TB have been reported till now. Very few neonates with drug-resistant (DR) congenital TB have been reported. Espiritu et al reported a case of multidrug-resistant (MDR) tuberculosis (TB) in a Peruvian infant.3 Kulhari et al reported a 46-day old male infant with congenitally acquired MDR-TB.4 We present a 21-day old child with congenital DR-TB who was detected to have rifampicin resistance (RR) on GeneXpert. Unfortunately the child succumbed to his disease. Mother was subsequently detected to have pulmonary TB with sputum showing RR mycobacterium tuberculosis (MTB) on GeneXpert suggesting perinatal acquisition. Case Report A 21 day old male neonate first by birth order presented with fever, lethargy and poor feeding for 12 days. He was born to a 24 year old mother at term by normal vaginal delivery and had a birth weight of 2.2 kg. Mother had no illness in pregnancy. Child was started on breast-feeds. There was no history of TB in the family. On presentation, he was lethargic and weighed 2.3 kg. There was mild respiratory distress with no cyanosis or jaundice. Chest had bilateral crepts with normal heart sounds. He had hepatomegaly. Other systems were normal. Routine hematological investigations were normal with reactive CRP (81 mg/dl). Liver functions showed raised liver enzymes (AST=528 IU/L; ALT=347 IU/L) with normal bilirubin levels. Ultrasound of abdomen showed mild hepatomegaly. Initial chest radiograph showed bilateral miliary shadows in the lung fields (figure 1). Echocardiography showed trivial tricuspid regurgitation with normal biventricular function. Gastric lavage (GL) for acid fast bacilli (AFB) was negative on three occasions. Blood, urine and CSF cultures were sterile. He was treated with pipercillin-tazobactum and ciprofloxacin. Respiratory distress further increased and required oxygen supplementation. On eighth day of admission, he developed severe respiratory distress requiring invasive ventilatory support. Hematological test showed thrombocytopenia. Antibiotics were upgraded to mer","PeriodicalId":19949,"journal":{"name":"Pediatric Oncall","volume":"48 1","pages":""},"PeriodicalIF":0.0,"publicationDate":"2022-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"84955411","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2022-01-01DOI: 10.7199/PED.ONCALL.2022.41
M. Phadke, Vishwajeet Sonu, N. Harish
A 4-year-old boy suffering from celiac disease on gluten free diet and in close contact with a COVID-19 patient for 2 weeks presented with fever 101 degree F, diarrhea and breathlessness with hypoxia. COVID-19 RT PCR and inflammatory markers were negative. There was pneumothorax on right side with lacy bullous pattern on chest x-ray. CT chest showed bilateral cystic lung disease. Lung biopsy showed moderately dense diffuse nodular infiltrates of oval to medium sized Langerhans cells. It also showed CD1a and S100 positivity on immunohistochemistry confirming Langerhans Cell Histiocytosis (LCH). There was no bone, skin, liver, or lymph node affected suggestive of isolated pulmonary LCH. Introduction Pulmonary Langerhans Cell Histiocytosis (PLCH) with few or more systemic involvement is common in adults with smoking as strong association whereas in children 1 to 10 per million is the estimated incidence of all Langerhans Cell Histiocytosis (LCH) cases under 15 years of age.1 It has slight male preponderance (1.2 to 1.4:1).1 Isolated pulmonary LCH is rare and exact incidence is not available. Breathlessness is a feature of both COVID-19 infection and PLCH. However, ground glass appearance is a feature of COVID-19 infection and cystic lung disease is a feature of PLCH.2 We present a confusing case of a 4-year-old boy with exposure to COVID-19 who developed breathlessness but was subsequently diagnosed to have PLCH. Case Report A 4 year old boy suffering from celiac disease on gluten free diet and in close contact with a COVID-19 patient for 2 weeks presented with fever 101 degree F, diarrhea and breathlessness with hypoxia for 5 days. On examination child was 13 kg and had respiratory rate of 45 with room air oxygen saturation of 88%, pulse rate of 110/min, axillary temperature of 1010F and decreased air entry on right side of chest. Rest of the systemic examination was normal. Nasopharyngeal swab for Covid-19 RT PCR done 10 days ago as well as on admission was negative. Hemoglobin was 10.2 gm%, white cell count was 16,370/cumm with platelet count of 725,000/cumm and ESR of 24 mm at end of 1 hour. Chest x-ray was suggestive of right sided pneumothorax with pushed effect on heart while electrocardiogram (ECG) was normal. Chest tube drainage was done for pneumothorax and patient was started on oxygen, intravenous (IV) fluids and IV antibiotics (amoxicillin-clavulanate and amikacin). After chest tube drainage, a repeat chest X-ray showed hyperinflated right lung with lacy bullous pattern (figure 1). Mantoux test and gastric aspirate for acid fast bacilli were negative. CT chest revealed diffuse numerous cysts of variable size, shape and wall thickness in both lung fields with few tiny solid nodules in right lower lobe with generalized ground glass haziness with mild right sided pneumothorax suggestive of PLCH or lymphangioleiomyomatosis. A lung biopsy showed Address for Correspondance: Dr Meghana Phadke, OPD no 2001, new OPD wing, Metro Heart and Super S
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Pub Date : 2022-01-01DOI: 10.7199/ped.oncall.2022.36
S. Pimenta
Introduction Coffin-Siris syndrome is a rare genetic disease, characterized by global developmental delay, typical facial dysmorphisms, hirsutism and bilateral aplasia or hypoplasia of the 5th distal phalange, although other malformations may be found. Several genes (ARID1A, ARID1B, SMARCA4, SMARCB1, SMARCE1 or SOX11) have been associated with this syndrome, and most of the cases occur as de novo events. The use of array-CGH in clinical practice has several implications. Diagnosis can be found for the manifestations in question, but variants of unknown significance or secondary/incidental findings (mainly for pre-symptomatic diseases) can also be detected. The implications of knowing this kind of information have been the subject of much discussion among the scientific and ethical community. The authors report the case of a 3-year-old male, second child of healthy non-consanguineous parents, with no relevant family history and no prenatal or perinatal complications reported. At the age of 4 months, the child was referred to a Neurodevelopment clinic due to axial hypotonia, with frequent choking episodes and eating difficulties. On physical examination, the hypotonia was confirmed, with no cephalic control, a plagiocephaly and few anti-gravity limb movements. He had a systolic murmur, that came to correspond to a slight supravalvular pulmonary stenosis on the echocardiogram. On the following appointments, facial dysmorphisms and hypoplasia of the nail of the 5th finger were noticed. Meanwhile, with physical therapy support, he started to sit with no support by the age of 9 months, to walk autonomously at the age of 20 months, and said his first words at 24 months old. At 9 months blood tests revealed hypercholesterinaemia (254 mg/L) and hypothyroidism (TSH: 5,97 mg/L, free T4: 0,75 mg/L.), starting treatment with levothyroxine. As first line testing, an array-CGH was performed, revealing a deletion in the 19p13.2 region. This deletion includes several genes such as: SMARCA4-associated with the Coffin-Siris syndrome and risk of developing rhabdoid tumours, LDRL-associated with familial hypercholesterolemia, DMN2 - related with autosomal dominant Charcot-Marie-Tooth and with a centronuclear myopathy, and PRKCSH - related with polycystic hepatic disease in adults. After Genetics clinic, the diagnosis of de novo Coffin-Siris syndrome was made, and this patient was also put on follow-up for the risk of the diseases potentially caused by the incidental findings in the genetic study. Conclusion: Coffin-Siris syndrome is a rare disorder, characterised by dysmorphia (that worsens over time) and intellectual disability, which might point to the diagnosis. This case portrays a rare situation in which a total genetic deletion of the SMARCA4 gene took place, but there were also deletions of other genes that have clinical significance. Genetic testing allows to confirm the diagnosis and family counselling. However, when carrying out the genetic study, as in thi
{"title":"Not just a Coffin-Siris Syndrome - The diagnosis of pre-symptomatic diseases","authors":"S. Pimenta","doi":"10.7199/ped.oncall.2022.36","DOIUrl":"https://doi.org/10.7199/ped.oncall.2022.36","url":null,"abstract":"Introduction Coffin-Siris syndrome is a rare genetic disease, characterized by global developmental delay, typical facial dysmorphisms, hirsutism and bilateral aplasia or hypoplasia of the 5th distal phalange, although other malformations may be found. Several genes (ARID1A, ARID1B, SMARCA4, SMARCB1, SMARCE1 or SOX11) have been associated with this syndrome, and most of the cases occur as de novo events. The use of array-CGH in clinical practice has several implications. Diagnosis can be found for the manifestations in question, but variants of unknown significance or secondary/incidental findings (mainly for pre-symptomatic diseases) can also be detected. The implications of knowing this kind of information have been the subject of much discussion among the scientific and ethical community. The authors report the case of a 3-year-old male, second child of healthy non-consanguineous parents, with no relevant family history and no prenatal or perinatal complications reported. At the age of 4 months, the child was referred to a Neurodevelopment clinic due to axial hypotonia, with frequent choking episodes and eating difficulties. On physical examination, the hypotonia was confirmed, with no cephalic control, a plagiocephaly and few anti-gravity limb movements. He had a systolic murmur, that came to correspond to a slight supravalvular pulmonary stenosis on the echocardiogram. On the following appointments, facial dysmorphisms and hypoplasia of the nail of the 5th finger were noticed. Meanwhile, with physical therapy support, he started to sit with no support by the age of 9 months, to walk autonomously at the age of 20 months, and said his first words at 24 months old. At 9 months blood tests revealed hypercholesterinaemia (254 mg/L) and hypothyroidism (TSH: 5,97 mg/L, free T4: 0,75 mg/L.), starting treatment with levothyroxine. As first line testing, an array-CGH was performed, revealing a deletion in the 19p13.2 region. This deletion includes several genes such as: SMARCA4-associated with the Coffin-Siris syndrome and risk of developing rhabdoid tumours, LDRL-associated with familial hypercholesterolemia, DMN2 - related with autosomal dominant Charcot-Marie-Tooth and with a centronuclear myopathy, and PRKCSH - related with polycystic hepatic disease in adults. After Genetics clinic, the diagnosis of de novo Coffin-Siris syndrome was made, and this patient was also put on follow-up for the risk of the diseases potentially caused by the incidental findings in the genetic study. Conclusion: Coffin-Siris syndrome is a rare disorder, characterised by dysmorphia (that worsens over time) and intellectual disability, which might point to the diagnosis. This case portrays a rare situation in which a total genetic deletion of the SMARCA4 gene took place, but there were also deletions of other genes that have clinical significance. Genetic testing allows to confirm the diagnosis and family counselling. However, when carrying out the genetic study, as in thi","PeriodicalId":19949,"journal":{"name":"Pediatric Oncall","volume":"80 1","pages":""},"PeriodicalIF":0.0,"publicationDate":"2022-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"88917593","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
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