{"title":"Cytokine Storm Syndrome Responsive to IL-1 Inhibition in Trisomy 21.","authors":"Aimee Magnarelli, Julia Shalen, Maria J Gutierrez","doi":"10.1155/2024/9946401","DOIUrl":"10.1155/2024/9946401","url":null,"abstract":"<p><strong>Background: </strong>Cytokine storm syndromes (CSS) are life-threatening systemic inflammatory disorders caused by immune system dysregulation. They can lead to organ failure and are triggered by various factors, including infections, malignancy, inborn errors of immunity, and autoimmune conditions. Trisomy 21 (TS21), also known as Down syndrome, is a genetic disorder associated with immune dysfunction, increased infection susceptibility, and inflammation. While TS21 has been linked to infectious-triggered hyperinflammation, its role as a primary cause of CSS has not been confirmed. <i>Case Presentation</i>. We present a case of a 16-year-old male with TS21 with fever, rash, joint pain, and abdominal symptoms. Extensive investigations ruled out infections, autoimmune conditions, malignancies, and inborn errors of immunity as triggers for a CSS. The patient's symptoms improved with treatment using IL-1 inhibition and corticosteroids.</p><p><strong>Conclusions: </strong>This case reinforces that TS21 is an immune dysregulation disorder and highlights the importance of considering CSS in TS21 patients, even when triggers are unclear. The positive response to IL-1 inhibition in this patient suggests that dysregulation of the IL-1 superfamily and the NLRP3 inflammasome may contribute to CSS in TS21. This finding raises the possibility of using IL-1 inhibition as a treatment approach for CSS in TS21 patients.</p>","PeriodicalId":9623,"journal":{"name":"Case Reports in Pediatrics","volume":"2024 ","pages":"9946401"},"PeriodicalIF":0.7,"publicationDate":"2024-03-28","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10994700/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140848044","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Marwa El Masri, Lidiya Samotiy-Hanna, Ramy Ghabril, Yolla Nassif, Dany Al Hamod
{"title":"Too Much Salt to My Taste: An Entity to Think about in Neonatal Hypernatremia: A Case Report and Review of the Literature.","authors":"Marwa El Masri, Lidiya Samotiy-Hanna, Ramy Ghabril, Yolla Nassif, Dany Al Hamod","doi":"10.1155/2024/8838362","DOIUrl":"10.1155/2024/8838362","url":null,"abstract":"<p><p>In exclusively breastfed newborns, hypernatremic dehydration is associated with a free water deficit secondary to insufficient fluid intake. Failure of newborns to regain their birth weight by the 10th day of life should be investigated urgently. In this report, we present a case of a 2 -week-old girl who presented to our institution for 30% weight loss and was found to have severe hypernatremic dehydration associated with acute renal failure (creatinine 4 mg/dL). Upon further investigation, the breast milk sodium content was found to be extremely elevated (90 mEq/L). To our knowledge, the following reported case of severe neonatal hypernatremic dehydration associated with acute renal failure has the most elevated breast milk sodium content, serum sodium, and serum creatinine levels described in the literature. Thus, hypernatremic dehydration secondary to elevated breast milk content should always be borne in mind and investigated whenever suspected.</p>","PeriodicalId":9623,"journal":{"name":"Case Reports in Pediatrics","volume":"2024 ","pages":"8838362"},"PeriodicalIF":0.9,"publicationDate":"2024-03-08","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10942816/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140142793","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Mansour Al Qurashi, Abdulaziz Al-Khotani, Farzeen Mohtisham, Eman AlRaddadi, Heba AlShaikh, Alqassem Y Hakami, Syed Sameer Aga
{"title":"Digital Ischemia in an Extreme Preterm Infant Treated with Nitroglycerin Patch.","authors":"Mansour Al Qurashi, Abdulaziz Al-Khotani, Farzeen Mohtisham, Eman AlRaddadi, Heba AlShaikh, Alqassem Y Hakami, Syed Sameer Aga","doi":"10.1155/2024/2255756","DOIUrl":"10.1155/2024/2255756","url":null,"abstract":"<p><p>Ischemic limb lesions occasionally occur in neonates admitted to neonatal intensive care units. Known risk factors include the placement of arterial catheters, arterial punctures to obtain blood samples, and the use of vasoactive/vasopressor medications for hypotension. Prolonged peripheral tissue ischemia may result in serious complications, and successful management depends on early detection, proper assessment, and the institution of appropriate intervention. Currently, there is no standard approach for the management of peripheral tissue ischemia in extreme preterm infants. Topical nitroglycerine use is one of the promising options used to manage ischemic limb injuries in neonates, as demonstrated in several case reports. We report a case of digital ischemia in an extreme preterm infant with no clear risk factors except extreme prematurity, which recovered after topical nitroglycerine therapy.</p>","PeriodicalId":9623,"journal":{"name":"Case Reports in Pediatrics","volume":"2024 ","pages":"2255756"},"PeriodicalIF":0.9,"publicationDate":"2024-02-28","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10917479/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140051463","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Matthew C Authement, Brandon M Jones, Robert J Kahoud, Elizabeth H Ristagno
{"title":"From Rarity to Recognition: Infantile Botulism and the Broad Spectrum of Differential Diagnoses.","authors":"Matthew C Authement, Brandon M Jones, Robert J Kahoud, Elizabeth H Ristagno","doi":"10.1155/2024/4647591","DOIUrl":"10.1155/2024/4647591","url":null,"abstract":"<p><p>This case illustrates a 5-week-old girl who presented with decreased activity, decreased feeds, poor suck, weak cry, lethargy, hypotonia, and areflexia. The child was found to have infant botulism. The case demonstrates the importance of a full history and broad differential in an ill-appearing infant. The differential for an ill-appearing infant should always include infectious etiologies and may include metabolic disorders, congenital anomalies, nonaccidental trauma, neurologic disorders, and endocrine disorders. The broad differential diagnosis may make rapid diagnosis and treatment for infantile botulism a challenge.</p>","PeriodicalId":9623,"journal":{"name":"Case Reports in Pediatrics","volume":"2024 ","pages":"4647591"},"PeriodicalIF":0.9,"publicationDate":"2024-02-26","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10911872/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140027443","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
{"title":"Unmasking the Hidden Culprit: A Coma Mimicry in a Child Bitten by Cobra","authors":"Aphirak Mekmangkonthong, Khanittha Khusiwilai, Sudathip Paticheep, Duangtip Tiacharoen","doi":"10.1155/2024/6630842","DOIUrl":"https://doi.org/10.1155/2024/6630842","url":null,"abstract":"Snake bite is a significant public health concern, particularly in tropical regions. Individuals who are bitten by neurotoxin snake commonly present with ptosis, ophthalmoparesis, muscle weakness, and diminished or absent of deep tendon reflexes. However, accurately determining the occurrence of a snakebite can sometimes be challenging, potentially leading to misdiagnosis. We present the case of a 2-year-old boy with sudden cardiac arrest. Following a brief resuscitation, he had return of spontaneous circulation. Despite normal electroencephalography results, the patient continued to have absence of brainstem reflexes, spontaneous breathing, and movement. Cobra antivenom was promptly initiated based on suspicions of a neurotoxic snakebite, resulting in a rapid recovery of the patient’s condition. We proposed that neurotoxin snake envenomation should be considered in patients with sudden cardiac arrest with uncertain cause, particularly in snake endemic areas.","PeriodicalId":9623,"journal":{"name":"Case Reports in Pediatrics","volume":"6 3","pages":""},"PeriodicalIF":0.9,"publicationDate":"2024-01-09","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139441371","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}
{"title":"Successful Termination of Insulin Therapy in Transient Neonatal Diabetes Mellitus.","authors":"Risa Sakai, Nobuyuki Kikuchi, Daisuke Nishi, Haruko Horiguchi","doi":"10.1155/2023/6667330","DOIUrl":"10.1155/2023/6667330","url":null,"abstract":"<p><p>A sensor-augmented pump (SAP) therapy is used to treat neonatal diabetes mellitus (NDM). We treated a case for which SAP therapy was successful and prevented hypoglycemia. The patient was a baby boy who was small for his gestational age. He had hyperglycemia at 4 days of age, and a diagnosis of NDM had previously been made at another hospital. A continuous intravenous insulin infusion was initiated. At 29 days of age, the patient was transferred to our hospital for further treatment. SAP therapy was initiated at 39 days, which was successful and prevented hypoglycemia. Gradually, blood glucose levels improved. The insulin infusion was stopped to determine if any potential pump issues arose prior to discharge; the patient's blood glucose level did not increase. The decision was therefore made to discharge the patient from the hospital at 58 days of age with discontinued insulin. After discharge, genetic analysis showed hypomethylation on one of the alleles within 6q24, leading to a diagnosis of 6q24-related diabetes mellitus. Although almost all 6q24-related NDM cases are transient, no evidence exists for the appropriate timing of insulin discontinuation. Retrospective continuous glucose monitoring (CGM) analysis showed improved standard deviation (SD) values as well as improved blood glucose variability. This experience suggested SD values of CGM may be used as an index for tapering and discontinuing insulin in SAP therapy. However, future collaborative studies at other centers that focus on SD values as a guide for insulin discontinuation in SAP are required.</p>","PeriodicalId":9623,"journal":{"name":"Case Reports in Pediatrics","volume":"2023 ","pages":"6667330"},"PeriodicalIF":0.9,"publicationDate":"2023-12-11","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10728360/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"138798429","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
{"title":"Acute Cheilitis Associated with Oseltamivir after Influenzae A Infection","authors":"Koji Yokoyama, Mitsukazu Mamada","doi":"10.1155/2023/8618245","DOIUrl":"https://doi.org/10.1155/2023/8618245","url":null,"abstract":"Oseltamivir is a neuraminidase inhibitor used to treat acute influenza A or B in adult and pediatric patients. Adverse reactions are usually mild. Here, we report novel side effects associated with oseltamivir. The patient was an 11-year-old girl who developed lower lip cheilitis and stomatitis, after taking oseltamivir. Her symptoms and signs resolved within 36 h of oseltamivir discontinuation. She has clinically fully recovered and has remained well.","PeriodicalId":9623,"journal":{"name":"Case Reports in Pediatrics","volume":"75 9","pages":""},"PeriodicalIF":0.9,"publicationDate":"2023-12-06","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"138596164","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}
{"title":"Chronic Morel-Lavallée Lesion in a Pediatric Patient: An Underrecognized Sequela after Trauma.","authors":"Anthony O Kamson, Bradley Lazzari, Joshua Murphy","doi":"10.1155/2023/6662079","DOIUrl":"10.1155/2023/6662079","url":null,"abstract":"<p><p>Morel-Lavallée lesions are serious internal degloving injuries associated with trauma. Its diagnosis and treatment can be challenging. We describe the surgical treatment of a case of a chronic Morel-Lavallée lesion in a pediatric patient who sustained an injury to her left thigh during an all-terrain vehicle accident more than a year ago.</p>","PeriodicalId":9623,"journal":{"name":"Case Reports in Pediatrics","volume":"2023 ","pages":"6662079"},"PeriodicalIF":0.7,"publicationDate":"2023-11-21","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10684318/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"138458124","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
{"title":"Growth Hormone Therapy for Small for Gestational Age Short Stature Develops Type 2 Diabetes.","authors":"Naohiro Nomura, Yuko Tanabe, Miki Minami, Junji Takaya, Kazunari Kaneko","doi":"10.1155/2023/9912817","DOIUrl":"https://doi.org/10.1155/2023/9912817","url":null,"abstract":"<p><p>Growth Hormone therapy has been shown to induce transient insulin resistance in children, and there is concern regarding the diabetogenic potential of GH therapy in children born small for gestational age (SGA). In this case, female patient born SGA with a weight of 2,750 g (-1.73 standard deviation (SD)) and length of 45.5 cm (-2.6 SD). The patient's father and paternal grandfather were diagnosed with type 2 diabetes mellitus. At 3 years of age, the patient presented with short stature; height and weight were 85 cm (-2.5 SD) and 13 kg (-0.19 SD), respectively. She was placed on GH therapy. At 11 years of age, her fasting blood glucose and hemoglobin A1c levels were 116 mg/dL and 7.4%, respectively. Blood test results were negative for anti-glutamic acid decarboxylase and anti-islet antigen-2 antibodies. The patient discontinued GH therapy and started diet therapy and oral metformin (500 mg/day) administration. Five months later, the hemoglobin A1c level was 5.3% and glycemic control further improved. To our knowledge, family history may be an important risk factor for GH-induced diabetes. So, the GH dosage for patients born SGA with family history of diabetes should be adjusted so as not to be too excessive, and long-term follow-up studies will be required to evaluate fully the effects of GH therapy for them.</p>","PeriodicalId":9623,"journal":{"name":"Case Reports in Pediatrics","volume":"2023 ","pages":"9912817"},"PeriodicalIF":0.9,"publicationDate":"2023-11-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10665101/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"138458125","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Michael P Penfold, Wentiirim B Annankra, Nathan C Hull, Margarita Corredor
{"title":"Congenital Hepatic Fibrosis in a 2-Year-Old Child Presenting with Fever of Unknown Origin.","authors":"Michael P Penfold, Wentiirim B Annankra, Nathan C Hull, Margarita Corredor","doi":"10.1155/2023/4497784","DOIUrl":"10.1155/2023/4497784","url":null,"abstract":"<p><p>Congenital hepatic fibrosis is a rare, autosomal recessive, fibro-polycystic disease resulting from ductal plate malformation, leading to proliferation and fibrosis of bile ducts. Progressive hepatic fibrosis leads to portal hypertension and varices which can present with life threatening gastrointestinal hemorrhage. We report a case of congenital hepatic fibrosis in a 2-year-old child who presented with 8 days of fever without any significant medical history or physical examination findings.</p>","PeriodicalId":9623,"journal":{"name":"Case Reports in Pediatrics","volume":"2023 ","pages":"4497784"},"PeriodicalIF":0.9,"publicationDate":"2023-11-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10632057/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"72013617","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}