Pub Date : 2025-01-01Epub Date: 2024-05-04DOI: 10.1007/s12098-024-05124-y
Soumalya Chakraborty, Ravneet Kaur, Bijoy Patra, J P Meena, S K Kabra, Madhulika Kabra, Neerja Gupta
Lysinuric protein intolerance (LPI) is an inborn metabolic error caused by cationic amino acid transport defects. The disease has a significant degree of phenotypic variation, with no confirmed genotype-phenotype correlation. Because it presents with symptoms similar to far more common diseases, the diagnosis is often missed, resulting in increased morbidity and mortality. This case series describes three examples of LPI with pulmonary, neurological, and immunological manifestations, emphasising the importance of keeping this disorder on the differential list. Appropriate metabolic and genetic testing is important in providing the correct diagnosis and timely care in such cases.
{"title":"The Great Masquerade: Varying Manifestations of Lysinuric Protein Intolerance.","authors":"Soumalya Chakraborty, Ravneet Kaur, Bijoy Patra, J P Meena, S K Kabra, Madhulika Kabra, Neerja Gupta","doi":"10.1007/s12098-024-05124-y","DOIUrl":"10.1007/s12098-024-05124-y","url":null,"abstract":"<p><p>Lysinuric protein intolerance (LPI) is an inborn metabolic error caused by cationic amino acid transport defects. The disease has a significant degree of phenotypic variation, with no confirmed genotype-phenotype correlation. Because it presents with symptoms similar to far more common diseases, the diagnosis is often missed, resulting in increased morbidity and mortality. This case series describes three examples of LPI with pulmonary, neurological, and immunological manifestations, emphasising the importance of keeping this disorder on the differential list. Appropriate metabolic and genetic testing is important in providing the correct diagnosis and timely care in such cases.</p>","PeriodicalId":13320,"journal":{"name":"Indian Journal of Pediatrics","volume":" ","pages":"70-72"},"PeriodicalIF":2.1,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140854576","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2025-01-01Epub Date: 2024-10-30DOI: 10.1007/s12098-024-05318-4
Singanamalla Bhanudeep, Bramhini Bhargavi Koneti
{"title":"Episodic Dystonia in an Infant with Spastic Paraplegia Type 11.","authors":"Singanamalla Bhanudeep, Bramhini Bhargavi Koneti","doi":"10.1007/s12098-024-05318-4","DOIUrl":"10.1007/s12098-024-05318-4","url":null,"abstract":"","PeriodicalId":13320,"journal":{"name":"Indian Journal of Pediatrics","volume":" ","pages":"101"},"PeriodicalIF":2.1,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142545191","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
{"title":"Atypical Presentation of Distal Renal Tubular Acidosis in a Child.","authors":"Akanksha, Sayan Banerjee, Anju Bala, Sunil Kushwah, Lesa Dawman, Jaivinder Yadav","doi":"10.1007/s12098-024-05307-7","DOIUrl":"10.1007/s12098-024-05307-7","url":null,"abstract":"","PeriodicalId":13320,"journal":{"name":"Indian Journal of Pediatrics","volume":" ","pages":"97"},"PeriodicalIF":2.1,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142499379","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2025-01-01Epub Date: 2024-10-30DOI: 10.1007/s12098-024-05315-7
Akshat Gupta, Priyanka Gaikwad, Kapil Jetha, Ravi Kumar
{"title":"Musculoskeletal Brucellosis Masquerading as a Pediatric Hematological Malignancy.","authors":"Akshat Gupta, Priyanka Gaikwad, Kapil Jetha, Ravi Kumar","doi":"10.1007/s12098-024-05315-7","DOIUrl":"10.1007/s12098-024-05315-7","url":null,"abstract":"","PeriodicalId":13320,"journal":{"name":"Indian Journal of Pediatrics","volume":" ","pages":"102"},"PeriodicalIF":2.1,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142545194","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2025-01-01Epub Date: 2024-11-25DOI: 10.1007/s12098-024-05337-1
Akanksha Singh, Priyanka Madaan, Dipika Bansal
Cannabidiol (CBD) has arisen as a promising therapeutic option for children with drug-resistant epilepsy (DRE). CBD has received regulatory nod from different regulatory authorities in the United States, Europe, and India for children with DRE particularly, Dravet syndrome (DS), Lennox Gastaut syndrome (LGS), and Tuberous sclerosis complex (TSC). Recent clinical trials and observational studies highlight the potential of CBD to lower seizure frequency and provide better quality of life in children affected by these disorders. The safety profile is generally favorable with minor common adverse events such as somnolence, diarrhea, and gastrointestinal issues. Furthermore, the expense associated with CBD remains a notable concern, especially in low- and middle-income countries such as India, where access to this promising treatment may be constrained. This draws attention to the cost-effective perspective of CBD. This review aims to explore the pharmacological properties of CBD, its mechanisms of action, and the clinical evidence supporting its use in various pediatric epilepsies, including LGS, DS, and TSC. Additionally, this review sheds light on the current regulatory landscape in India where CBD use is still in its nascent stages, and discusses the challenges and opportunities for integrating CBD into clinical practice.
{"title":"Update on Cannabidiol in Drug-Resistant Epilepsy.","authors":"Akanksha Singh, Priyanka Madaan, Dipika Bansal","doi":"10.1007/s12098-024-05337-1","DOIUrl":"10.1007/s12098-024-05337-1","url":null,"abstract":"<p><p>Cannabidiol (CBD) has arisen as a promising therapeutic option for children with drug-resistant epilepsy (DRE). CBD has received regulatory nod from different regulatory authorities in the United States, Europe, and India for children with DRE particularly, Dravet syndrome (DS), Lennox Gastaut syndrome (LGS), and Tuberous sclerosis complex (TSC). Recent clinical trials and observational studies highlight the potential of CBD to lower seizure frequency and provide better quality of life in children affected by these disorders. The safety profile is generally favorable with minor common adverse events such as somnolence, diarrhea, and gastrointestinal issues. Furthermore, the expense associated with CBD remains a notable concern, especially in low- and middle-income countries such as India, where access to this promising treatment may be constrained. This draws attention to the cost-effective perspective of CBD. This review aims to explore the pharmacological properties of CBD, its mechanisms of action, and the clinical evidence supporting its use in various pediatric epilepsies, including LGS, DS, and TSC. Additionally, this review sheds light on the current regulatory landscape in India where CBD use is still in its nascent stages, and discusses the challenges and opportunities for integrating CBD into clinical practice.</p>","PeriodicalId":13320,"journal":{"name":"Indian Journal of Pediatrics","volume":" ","pages":"61-69"},"PeriodicalIF":2.1,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142710040","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2025-01-01Epub Date: 2024-09-05DOI: 10.1007/s12098-024-05257-0
Nitin Dhochak, Rakesh Lodha
{"title":"Vitamin B12 Deficiency: An Under-Addressed Community Health Problem.","authors":"Nitin Dhochak, Rakesh Lodha","doi":"10.1007/s12098-024-05257-0","DOIUrl":"10.1007/s12098-024-05257-0","url":null,"abstract":"","PeriodicalId":13320,"journal":{"name":"Indian Journal of Pediatrics","volume":" ","pages":"3-4"},"PeriodicalIF":2.1,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142132614","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
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