Ravi Chirag, Arun Jayendra Rasuri, Thirunavukkarasu Arun Babu
Kartagener’s syndrome (KS) is a rare autosomal recessive genetic condition causing disruption to ciliary movement, leading to the triad of sinusitis, situs inversus, and bronchiectasis. Mutations in genes such as DNAI1 and DNAH5 increase susceptibility to recurrent sinopulmonary infections, infertility and errors with the left-right body orientation. A teenage boy with a decade-long history of sinusitis, chronic cough and ear infections showed bronchiectasis and situs inversus in clinical and imaging examinations. He had a neonatal intensive care unit stay for 1 month due to respiratory distress at birth, where dextrocardia was noted. Treatment with antibiotics, mucolytics, chest therapy and vaccination improved his symptoms. KS should be considered in newborns with dextrocardia and breathing problems. Genetic counselling and fertility issues should be addressed once KS is diagnosed.
{"title":"Kartagener’s syndrome in an adolescent male: A case report and review of literature","authors":"Ravi Chirag, Arun Jayendra Rasuri, Thirunavukkarasu Arun Babu","doi":"10.25259/kpj_11_2024","DOIUrl":"https://doi.org/10.25259/kpj_11_2024","url":null,"abstract":"Kartagener’s syndrome (KS) is a rare autosomal recessive genetic condition causing disruption to ciliary movement, leading to the triad of sinusitis, situs inversus, and bronchiectasis. Mutations in genes such as DNAI1 and DNAH5 increase susceptibility to recurrent sinopulmonary infections, infertility and errors with the left-right body orientation. A teenage boy with a decade-long history of sinusitis, chronic cough and ear infections showed bronchiectasis and situs inversus in clinical and imaging examinations. He had a neonatal intensive care unit stay for 1 month due to respiratory distress at birth, where dextrocardia was noted. Treatment with antibiotics, mucolytics, chest therapy and vaccination improved his symptoms. KS should be considered in newborns with dextrocardia and breathing problems. Genetic counselling and fertility issues should be addressed once KS is diagnosed.","PeriodicalId":499914,"journal":{"name":"Karnataka paediatric journal","volume":"118 34","pages":""},"PeriodicalIF":0.0,"publicationDate":"2024-07-20","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141820190","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}
Vykuntaraju K. Gowda, A. Roy, Varunvenkat M Srinivasan
{"title":"Sialuria due to GNE pathogenic variant masquerading as cerebral palsy","authors":"Vykuntaraju K. Gowda, A. Roy, Varunvenkat M Srinivasan","doi":"10.25259/kpj_10_2024","DOIUrl":"https://doi.org/10.25259/kpj_10_2024","url":null,"abstract":"","PeriodicalId":499914,"journal":{"name":"Karnataka paediatric journal","volume":"84 3","pages":""},"PeriodicalIF":0.0,"publicationDate":"2024-06-11","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141359853","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}
Vykuntaraju K. Gowda, Varunvenkat M Srinivasan, Viveka-Santhosh Reddy, Amena Nayyer
{"title":"Leigh like phenotype secondary to 3-hydroxyisobutyryl-CoA hydrolase deficiency: A first Indian case","authors":"Vykuntaraju K. Gowda, Varunvenkat M Srinivasan, Viveka-Santhosh Reddy, Amena Nayyer","doi":"10.25259/kpj_9_2024","DOIUrl":"https://doi.org/10.25259/kpj_9_2024","url":null,"abstract":"","PeriodicalId":499914,"journal":{"name":"Karnataka paediatric journal","volume":"124 2","pages":""},"PeriodicalIF":0.0,"publicationDate":"2024-06-11","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141360686","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}
V.K. Gowda, V. R. Challa, Varunvenkat M Srinivasan, Dhananjaya K. Vamyanmane
Hemiplegia Hemiconvulsion Epilepsy syndrome (HHE syndrome) is a condition characterized by the acute onset of unilateral seizures, which progress to cortical atrophy, hemiplegia and later develop epilepsy over weeks to years. Various aetiologies include infectious causes, especially meningitis, encephalitis, trauma, vascular insults, and sometimes idiopathic. Here, we present a 13-month-old female child, first in birth order, born to a non-consanguineous marriage, who presented with mild global developmental delay with acute onset right focal seizures followed by right-sided weakness and drug-resistant epilepsy. The child was found to have clinical and biochemical features of vitamin B12 deficiency with right-sided weakness. MRI of the brain initially showed edema of the left cerebral hemisphere and later atrophy on the left side. The electroencephalogram showed low voltage activity over the left cerebral hemisphere. Post-treatment with cobalamin, improvement in development was noted, with partial improvement in weakness and persistent epilepsy. In the current report, we highlight Hemiplegia Hemiconvulsion Epilepsy (HHE) syndrome on the background of nutritional vitamin B12 deficiency.
{"title":"A nutritional Vitamin B12 deficiency (infantile tremor syndrome) presenting as hemiconvulsion hemiplegia epilepsy syndrome","authors":"V.K. Gowda, V. R. Challa, Varunvenkat M Srinivasan, Dhananjaya K. Vamyanmane","doi":"10.25259/kpj_58_2023","DOIUrl":"https://doi.org/10.25259/kpj_58_2023","url":null,"abstract":"Hemiplegia Hemiconvulsion Epilepsy syndrome (HHE syndrome) is a condition characterized by the acute onset of unilateral seizures, which progress to cortical atrophy, hemiplegia and later develop epilepsy over weeks to years. Various aetiologies include infectious causes, especially meningitis, encephalitis, trauma, vascular insults, and sometimes idiopathic. Here, we present a 13-month-old female child, first in birth order, born to a non-consanguineous marriage, who presented with mild global developmental delay with acute onset right focal seizures followed by right-sided weakness and drug-resistant epilepsy. The child was found to have clinical and biochemical features of vitamin B12 deficiency with right-sided weakness. MRI of the brain initially showed edema of the left cerebral hemisphere and later atrophy on the left side. The electroencephalogram showed low voltage activity over the left cerebral hemisphere. Post-treatment with cobalamin, improvement in development was noted, with partial improvement in weakness and persistent epilepsy. In the current report, we highlight Hemiplegia Hemiconvulsion Epilepsy (HHE) syndrome on the background of nutritional vitamin B12 deficiency.","PeriodicalId":499914,"journal":{"name":"Karnataka paediatric journal","volume":"184 S490","pages":""},"PeriodicalIF":0.0,"publicationDate":"2024-02-26","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140428609","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}
Adenovirus infections in paediatrics present a significant health burden, causing various respiratory, gastrointestinal and ocular illnesses. Diagnosing adenovirus infections in pediatric patients can be challenging due to overlapping symptoms with other viral and bacterial infections. Molecular techniques, such as polymerase chain reaction, are highly sensitive and specific for adenovirus detection. Enhanced surveillance, accurate diagnosis, supportive management and preventive measures are crucial for reducing the morbidity and mortality associated with adenovirus infections in pediatric populations. Further research is needed to advance our understanding of adenovirus pathogenesis, develop effective antiviral therapies and improve vaccine strategies.
{"title":"Adenovirus infections in paediatrics: Understanding the symptoms, diagnosis and treatment","authors":"Pooja Doddikoppad, Bhaskar Shenoy","doi":"10.25259/kpj_38_2023","DOIUrl":"https://doi.org/10.25259/kpj_38_2023","url":null,"abstract":"Adenovirus infections in paediatrics present a significant health burden, causing various respiratory, gastrointestinal and ocular illnesses. Diagnosing adenovirus infections in pediatric patients can be challenging due to overlapping symptoms with other viral and bacterial infections. Molecular techniques, such as polymerase chain reaction, are highly sensitive and specific for adenovirus detection. Enhanced surveillance, accurate diagnosis, supportive management and preventive measures are crucial for reducing the morbidity and mortality associated with adenovirus infections in pediatric populations. Further research is needed to advance our understanding of adenovirus pathogenesis, develop effective antiviral therapies and improve vaccine strategies.","PeriodicalId":499914,"journal":{"name":"Karnataka paediatric journal","volume":"36 1","pages":""},"PeriodicalIF":0.0,"publicationDate":"2023-12-13","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139003274","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}
Allergy to latex is one of the reported concerns among healthcare workers. It has been found in various studies that latex sensitivity is 3–5 times higher in doctors and nurses as compared to non-healthcare workers. The main source of latex allergy is exposure to powdered gloves. Chronic exposure to latex can lead to various symptoms such as pruritus, dermatitis, erythema and urticaria, rhinitis, conjunctivitis, and asthma. There is sparse Indian data due to a lack of awareness and diagnostic facilities; therefore, studies are required to evaluate latex-related symptoms and sensitisation with the use of powdered gloves as compared to the use of non-powdered gloves and to institute appropriate preventive strategies.
{"title":"Latex allergy in healthcare workers: A review","authors":"Kavita Yadav, Neeraj Gupta","doi":"10.25259/kpj_44_2023","DOIUrl":"https://doi.org/10.25259/kpj_44_2023","url":null,"abstract":"Allergy to latex is one of the reported concerns among healthcare workers. It has been found in various studies that latex sensitivity is 3–5 times higher in doctors and nurses as compared to non-healthcare workers. The main source of latex allergy is exposure to powdered gloves. Chronic exposure to latex can lead to various symptoms such as pruritus, dermatitis, erythema and urticaria, rhinitis, conjunctivitis, and asthma. There is sparse Indian data due to a lack of awareness and diagnostic facilities; therefore, studies are required to evaluate latex-related symptoms and sensitisation with the use of powdered gloves as compared to the use of non-powdered gloves and to institute appropriate preventive strategies.","PeriodicalId":499914,"journal":{"name":"Karnataka paediatric journal","volume":"9 9","pages":""},"PeriodicalIF":0.0,"publicationDate":"2023-12-09","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"138585534","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}
The article describes a rare congenital malformation – laryngeal cleft in a newborn. Clinical manifestations are characterised by diverse non-specific symptoms in the form of dysphagia, cough, aspiration, and stridor. The severity of the condition is determined by the depth and degree of the defect and concomitant somatic and neurological pathology of the child. The article presents a clinical case of a Type 3 laryngeal cleft in a newborn with multiple congenital malformations and presents a diagnostic search for a cleft. At the age of 7 months, endoscopic suturing of the defect was performed, which allowed restoring enteral nutrition and normalizing the nutritional status of the child.
{"title":"Diagnosis of posterior laryngeal cleft in a newborn with multiple congenital malformations","authors":"Fedina Natalia Vasilyevna, Petrova Valeria Igorevna, Dmitriev Andrey Vladimirovich, Gudkov Roman Anatolyevich, Terekhina Tatiana Anatolyevna","doi":"10.25259/kpj_55_2023","DOIUrl":"https://doi.org/10.25259/kpj_55_2023","url":null,"abstract":"The article describes a rare congenital malformation – laryngeal cleft in a newborn. Clinical manifestations are characterised by diverse non-specific symptoms in the form of dysphagia, cough, aspiration, and stridor. The severity of the condition is determined by the depth and degree of the defect and concomitant somatic and neurological pathology of the child. The article presents a clinical case of a Type 3 laryngeal cleft in a newborn with multiple congenital malformations and presents a diagnostic search for a cleft. At the age of 7 months, endoscopic suturing of the defect was performed, which allowed restoring enteral nutrition and normalizing the nutritional status of the child.","PeriodicalId":499914,"journal":{"name":"Karnataka paediatric journal","volume":"1 1","pages":""},"PeriodicalIF":0.0,"publicationDate":"2023-12-09","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"138585905","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}
Younes Dehneh, M. A. Elfarissi, Mohammed Khoulali, Nourredine Oulali, F. Moufid
Midbrain abscess is an uncommon pathology, especially in paediatric patients. Establishing a guideline for managing brain-stem abscesses is not yet well described, as few paediatrics patients have been treated for this central nervous system infection type. A 3-year-old boy was admitted for facial paralysis. A brain magnetic resonance imaging showed a brain-stem abscess. He was put on Teicoplanin and cephalosporin third generation for four weeks, with favourable evolution. The prognosis in paediatric brain-stem abscesses is generally favourable. Most patients recover with minor neurologic deficits or improve ultimately.
{"title":"Paediatric midbrain abscess: A case report and literature review","authors":"Younes Dehneh, M. A. Elfarissi, Mohammed Khoulali, Nourredine Oulali, F. Moufid","doi":"10.25259/kpj_54_2023","DOIUrl":"https://doi.org/10.25259/kpj_54_2023","url":null,"abstract":"Midbrain abscess is an uncommon pathology, especially in paediatric patients. Establishing a guideline for managing brain-stem abscesses is not yet well described, as few paediatrics patients have been treated for this central nervous system infection type. A 3-year-old boy was admitted for facial paralysis. A brain magnetic resonance imaging showed a brain-stem abscess. He was put on Teicoplanin and cephalosporin third generation for four weeks, with favourable evolution. The prognosis in paediatric brain-stem abscesses is generally favourable. Most patients recover with minor neurologic deficits or improve ultimately.","PeriodicalId":499914,"journal":{"name":"Karnataka paediatric journal","volume":"13 1","pages":""},"PeriodicalIF":0.0,"publicationDate":"2023-12-09","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"138585656","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}
Acute encephalitis syndrome (AES) can pose challenges in diagnosis and management. Infection-associated acute encephalopathies (AEs) are increasingly being recognised and closely mimic AES. We provide an overview of various causes of AE and a detailed review of the clinical laboratory, including neuroradiologic features of acute necrotising encephalopathy (ANE) of childhood, its treatment, and outcome. A literature search was performed using the keywords’ Paediatric acute encephalopathy’ and ‘acute necrotising encephalopathy of childhood’ in PubMed and Google Scholar, and all relevant articles from 2001 to 2021 (including case reports) in the English language were reviewed. Relevant and major articles before 2001 were also reviewed. Infection-associated AEs remain under-recognised and pose a challenge in neurocritical care. Judicious use of neuroimaging and laboratory tests aids diagnosis of specific clinicoradiological AE syndromes. We need to suspect ANE if fever (esp. viral illness) is followed by the rapid deterioration in the sensorium associated with tone abnormalities or seizures. Neuroimaging typically shows symmetric lesions in the thalami, internal capsule or cerebellar white matter and tegmentum. While definite treatment guidelines are not available, several interventions have shown potential benefits in supporting patients with ANE. These include standard supportive care, immunotherapy, especially high-dose pulse methylprednisolone, therapeutic hypothermia initiated before 12 h to reduce cytokines, and anti-oedema measures. However, it is essential to note that outcomes in ANE can be highly variable, with a mortality rate of approximately 30% and only 10% experiencing intact survival. Predictors of poor outcome include age younger than one year, increased cerebrospinal fluid protein/transaminases, the presence of haemorrhage/cavitation/brainstem lesions on neuroimaging, and a high ANE severity score.
{"title":"Acute necrotising encephalopathy of childhood – A narrative review","authors":"Bidisha Banerjee, Ullas V. Acharya","doi":"10.25259/kpj_30_2023","DOIUrl":"https://doi.org/10.25259/kpj_30_2023","url":null,"abstract":"Acute encephalitis syndrome (AES) can pose challenges in diagnosis and management. Infection-associated acute encephalopathies (AEs) are increasingly being recognised and closely mimic AES. We provide an overview of various causes of AE and a detailed review of the clinical laboratory, including neuroradiologic features of acute necrotising encephalopathy (ANE) of childhood, its treatment, and outcome. A literature search was performed using the keywords’ Paediatric acute encephalopathy’ and ‘acute necrotising encephalopathy of childhood’ in PubMed and Google Scholar, and all relevant articles from 2001 to 2021 (including case reports) in the English language were reviewed. Relevant and major articles before 2001 were also reviewed. Infection-associated AEs remain under-recognised and pose a challenge in neurocritical care. Judicious use of neuroimaging and laboratory tests aids diagnosis of specific clinicoradiological AE syndromes. We need to suspect ANE if fever (esp. viral illness) is followed by the rapid deterioration in the sensorium associated with tone abnormalities or seizures. Neuroimaging typically shows symmetric lesions in the thalami, internal capsule or cerebellar white matter and tegmentum. While definite treatment guidelines are not available, several interventions have shown potential benefits in supporting patients with ANE. These include standard supportive care, immunotherapy, especially high-dose pulse methylprednisolone, therapeutic hypothermia initiated before 12 h to reduce cytokines, and anti-oedema measures. However, it is essential to note that outcomes in ANE can be highly variable, with a mortality rate of approximately 30% and only 10% experiencing intact survival. Predictors of poor outcome include age younger than one year, increased cerebrospinal fluid protein/transaminases, the presence of haemorrhage/cavitation/brainstem lesions on neuroimaging, and a high ANE severity score.","PeriodicalId":499914,"journal":{"name":"Karnataka paediatric journal","volume":"17 10","pages":""},"PeriodicalIF":0.0,"publicationDate":"2023-12-09","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"138585451","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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