Background: Granulomatosis with polyangiitis (GPA) with early manifestations simulating IgA vasculitis is a very rare childhood systemic disease. Case Presentation. A 10-year-old boy presented initially with cutaneous, skeletal, and abdominal signs suggestive of IgA vasculitis. Over time, the worsening of skin ulcers, orchitis, and renal involvement led to the diagnosis of GPA according to cytoplasmic positive antineutrophil cytoplasmic antibodies and renal biopsy.
Conclusion: Clinicians should be awared of the diagnostic pitfalls when making a clinical diagnosis of IgA vasculitis in children older than 7 years.
{"title":"Granulomatosis with Polyangiitis Misdiagnosed as IgA Vasculitis in a Child.","authors":"Sheida Amini, Mohsen Jari","doi":"10.1155/2023/9950855","DOIUrl":"https://doi.org/10.1155/2023/9950855","url":null,"abstract":"<p><strong>Background: </strong>Granulomatosis with polyangiitis (GPA) with early manifestations simulating IgA vasculitis is a very rare childhood systemic disease. <i>Case Presentation</i>. A 10-year-old boy presented initially with cutaneous, skeletal, and abdominal signs suggestive of IgA vasculitis. Over time, the worsening of skin ulcers, orchitis, and renal involvement led to the diagnosis of GPA according to cytoplasmic positive antineutrophil cytoplasmic antibodies and renal biopsy.</p><p><strong>Conclusion: </strong>Clinicians should be awared of the diagnostic pitfalls when making a clinical diagnosis of IgA vasculitis in children older than 7 years.</p>","PeriodicalId":9623,"journal":{"name":"Case Reports in Pediatrics","volume":"2023 ","pages":"9950855"},"PeriodicalIF":0.9,"publicationDate":"2023-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10125763/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"9362360","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}
Chiara Zeroli, Armela Gorica, Giulia Claire D'Aleo Canova, Monica Caruso, Paolo Castelnuovo, Francesca De Bernardi
Background: Kawasaki disease is an acute febrile generalized vasculitic syndrome of childhood of unknown ethology. The most severe complication may involve the hearth and include acute myocarditis with hearth failure, arrythmia, and coronary artery aneurism. The typical clinical symptoms are fever, conjunctivitis, rash, cervical lymphadenopathy, and mucocutaneous changes, and the diagnosis is made by the clinical criteria. Early use of aspirin and immunoglobuline improves symptoms and prevent heart complications. Case Presentation. A 4-year-old male presented to our attention for multiple unilateral laterocervical lymphadenopathies, odynophagia, and neck stiffness, initially treated with IV antibiotic therapy with partial resolution of symptoms. After four months he made a new ER access for cervicalgia, tonsils asymmetry, trismus, stiff neck, lameness, and phalanx hyperaemia and increase in the size of cervical lymph nodes. Radiology showed increase of lymphnodes dimension and retropharyngeal space asymmetry. The same day heart murmur appeared, so the patient underwent cardiological evaluation that documented dilation of the coronary arteries. This sign made it possible to place the diagnostic suspicion of Kawasaki disease and to start IV immunoglobulins and acetylsalicylic acid administration with prompt response.
Conclusions: Kawasaki disease presents with a range of symptoms which, taken individually, are very common in childhood. One of these symptoms is represented by the swollen of neck lymph nodes. It is only clinical reasoning that leads to the correct diagnosis, and therefore, to the correct setting of the therapy, reducing the risk of complications.
{"title":"Kawasaki Disease: Unusual Presentation with Retropharyngeal Involvement.","authors":"Chiara Zeroli, Armela Gorica, Giulia Claire D'Aleo Canova, Monica Caruso, Paolo Castelnuovo, Francesca De Bernardi","doi":"10.1155/2023/4913700","DOIUrl":"https://doi.org/10.1155/2023/4913700","url":null,"abstract":"<p><strong>Background: </strong>Kawasaki disease is an acute febrile generalized vasculitic syndrome of childhood of unknown ethology. The most severe complication may involve the hearth and include acute myocarditis with hearth failure, arrythmia, and coronary artery aneurism. The typical clinical symptoms are fever, conjunctivitis, rash, cervical lymphadenopathy, and mucocutaneous changes, and the diagnosis is made by the clinical criteria. Early use of aspirin and immunoglobuline improves symptoms and prevent heart complications. <i>Case Presentation</i>. A 4-year-old male presented to our attention for multiple unilateral laterocervical lymphadenopathies, odynophagia, and neck stiffness, initially treated with IV antibiotic therapy with partial resolution of symptoms. After four months he made a new ER access for cervicalgia, tonsils asymmetry, trismus, stiff neck, lameness, and phalanx hyperaemia and increase in the size of cervical lymph nodes. Radiology showed increase of lymphnodes dimension and retropharyngeal space asymmetry. The same day heart murmur appeared, so the patient underwent cardiological evaluation that documented dilation of the coronary arteries. This sign made it possible to place the diagnostic suspicion of Kawasaki disease and to start IV immunoglobulins and acetylsalicylic acid administration with prompt response.</p><p><strong>Conclusions: </strong>Kawasaki disease presents with a range of symptoms which, taken individually, are very common in childhood. One of these symptoms is represented by the swollen of neck lymph nodes. It is only clinical reasoning that leads to the correct diagnosis, and therefore, to the correct setting of the therapy, reducing the risk of complications.</p>","PeriodicalId":9623,"journal":{"name":"Case Reports in Pediatrics","volume":"2023 ","pages":"4913700"},"PeriodicalIF":0.9,"publicationDate":"2023-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10151147/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"9402659","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}
Shreeja Shikhrakar, S. K. Mandal, Pradeep Sharma, S. Shrestha, Sanket Bhattarai
Osteogenesis imperfecta (OI) is a group of rare, permanent genetic bone disorders resulting from the mutations in genes encoding type 1 collagen. It usually is inherited by an autosomal dominant pattern, but it can sometimes occur sporadically. Among the four main types, type III is the most severe type which presents with multiple bone fractures, skeletal deformities, blue sclera, hearing, and dental abnormalities. It is estimated that only 1 in 20,000 cases of OI are detected during infancy, and the diagnosis carries a poor prognosis. This case is reported for the rarity of sporadic OI diagnosis in neonates. We present a case of a 1-day-old neonate following a normal vaginal delivery referred to our center in the view of low birth weight and multiple bony deformities. Physical examination revealed an ill-looking child with poor suckling, gross bony deformities in upper and lower limbs, and blue sclera. X-ray showed thin gracile bones with multiple bone fractures. Echocardiography revealed a 4 mm patent ductus arteriosus. The patient was diagnosed with type III OI with patent ductus arteriosus. Though OI is rare in neonates and infants, it should be considered in the differentials in a newborn presenting with multiple bony deformities regardless of family history, history of trauma, or physical abuse. OI is also associated with cardiac anomalies such as the atrial septal defect and patent ductus arteriosus for which echocardiography is recommended routinely.
{"title":"An Unusual Diagnosis of Sporadic Type III Osteogenesis Imperfecta in the First Day of Life","authors":"Shreeja Shikhrakar, S. K. Mandal, Pradeep Sharma, S. Shrestha, Sanket Bhattarai","doi":"10.1155/2022/3251980","DOIUrl":"https://doi.org/10.1155/2022/3251980","url":null,"abstract":"Osteogenesis imperfecta (OI) is a group of rare, permanent genetic bone disorders resulting from the mutations in genes encoding type 1 collagen. It usually is inherited by an autosomal dominant pattern, but it can sometimes occur sporadically. Among the four main types, type III is the most severe type which presents with multiple bone fractures, skeletal deformities, blue sclera, hearing, and dental abnormalities. It is estimated that only 1 in 20,000 cases of OI are detected during infancy, and the diagnosis carries a poor prognosis. This case is reported for the rarity of sporadic OI diagnosis in neonates. We present a case of a 1-day-old neonate following a normal vaginal delivery referred to our center in the view of low birth weight and multiple bony deformities. Physical examination revealed an ill-looking child with poor suckling, gross bony deformities in upper and lower limbs, and blue sclera. X-ray showed thin gracile bones with multiple bone fractures. Echocardiography revealed a 4 mm patent ductus arteriosus. The patient was diagnosed with type III OI with patent ductus arteriosus. Though OI is rare in neonates and infants, it should be considered in the differentials in a newborn presenting with multiple bony deformities regardless of family history, history of trauma, or physical abuse. OI is also associated with cardiac anomalies such as the atrial septal defect and patent ductus arteriosus for which echocardiography is recommended routinely.","PeriodicalId":9623,"journal":{"name":"Case Reports in Pediatrics","volume":"79 1","pages":""},"PeriodicalIF":0.9,"publicationDate":"2022-06-06","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"80906819","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}
Carbamazepine is a common anticonvulsant medication used to treat seizure disorders and is generally considered a safe medication. We describe the case of a 9-year-old female who presented with acute altered mental status and respiratory failure requiring mechanical ventilation. She was found to be intoxicated with carbamazepine through a urine drug test which was confirmed by bloodwork. After her medical condition improved, the patient admitted to self-injury through ingestion to cope with the death of a family member. She received a complete psychiatric assessment and was eventually discharged without permanent neurologic sequelae. To our knowledge, this is the first case of intentional self-injury with carbamazepine intoxication in an elementary school-aged child. When intoxication is suspected in children presenting with altered mental status, all medications available at home should be investigated. Preadolescent children may engage in nonfatal self-injury behavior, and diagnosis requires a high index of suspicion.
{"title":"Self-Injury with Carbamazepine Intoxication in an Elementary School-Aged Child","authors":"A. Shieh, Natalie Schellpfeffer","doi":"10.1155/2022/5135456","DOIUrl":"https://doi.org/10.1155/2022/5135456","url":null,"abstract":"Carbamazepine is a common anticonvulsant medication used to treat seizure disorders and is generally considered a safe medication. We describe the case of a 9-year-old female who presented with acute altered mental status and respiratory failure requiring mechanical ventilation. She was found to be intoxicated with carbamazepine through a urine drug test which was confirmed by bloodwork. After her medical condition improved, the patient admitted to self-injury through ingestion to cope with the death of a family member. She received a complete psychiatric assessment and was eventually discharged without permanent neurologic sequelae. To our knowledge, this is the first case of intentional self-injury with carbamazepine intoxication in an elementary school-aged child. When intoxication is suspected in children presenting with altered mental status, all medications available at home should be investigated. Preadolescent children may engage in nonfatal self-injury behavior, and diagnosis requires a high index of suspicion.","PeriodicalId":9623,"journal":{"name":"Case Reports in Pediatrics","volume":"3 1","pages":""},"PeriodicalIF":0.9,"publicationDate":"2022-05-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"78815049","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}
Emmanuella Amoako, K. A. Danso, Rosemary Sefakor Akuaku, Kofi Ulzen-Appiah
Rosai–Dorfman disease (RDD) is a rare disease of unknown cause. It is a benign self-limiting condition characterized by the accumulation of activated histiocytes in the sinusoids of lymph nodes and/or extranodal tissues. Massive cervical lymphadenopathy as the initial manifestation tends to raise the initial odds in favour of a lymphoma, and thus reducing the threshold to performing a simple biopsy cannot be overestimated. Herein, we report a 13-year-old adolescent who presented with a progressive posterior left-sided neck swelling. Our diagnosis of RDD was established by demonstrating emperipolesis in histology and S100 positivity in immunohistochemistry as stated in the literature. Although the condition is known to be self-limiting, evidence from the literature and our case management shows that medical therapy can hasten remission in pediatric cases.
{"title":"A Report of Rosai–Dorfman Disease in an Adolescent","authors":"Emmanuella Amoako, K. A. Danso, Rosemary Sefakor Akuaku, Kofi Ulzen-Appiah","doi":"10.1155/2022/9571400","DOIUrl":"https://doi.org/10.1155/2022/9571400","url":null,"abstract":"Rosai–Dorfman disease (RDD) is a rare disease of unknown cause. It is a benign self-limiting condition characterized by the accumulation of activated histiocytes in the sinusoids of lymph nodes and/or extranodal tissues. Massive cervical lymphadenopathy as the initial manifestation tends to raise the initial odds in favour of a lymphoma, and thus reducing the threshold to performing a simple biopsy cannot be overestimated. Herein, we report a 13-year-old adolescent who presented with a progressive posterior left-sided neck swelling. Our diagnosis of RDD was established by demonstrating emperipolesis in histology and S100 positivity in immunohistochemistry as stated in the literature. Although the condition is known to be self-limiting, evidence from the literature and our case management shows that medical therapy can hasten remission in pediatric cases.","PeriodicalId":9623,"journal":{"name":"Case Reports in Pediatrics","volume":"19 1","pages":""},"PeriodicalIF":0.9,"publicationDate":"2022-05-26","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"74985806","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}
A. Ghanam, A. Elouali, M. Nour, M. Rkain, N. Benajiba, A. Babakhouya
Bean syndrome (BS) or blue rubber bleb nevus syndrome is a rare clinical entity characterized by venous malformations mainly in the skin and digestive tract, whose hemorrhagic complications can be life threatening. We report a case of Bean syndrome in a 3-year-old child of nonconsanguineous parents, in whom the diagnosis of miliary hemangiomatosis was initially made in view of a huge mass on the left thigh, taking the knee, and then the progressive appearance of a skin disorder with bluish swellings of variable sizes spread over the whole body. The patient was put on beta-blockers but without improvement. The evolution was marked by an increase in the volume of the thigh mass. Ultrasound exploration coupled with Doppler imaging revealed the presence of angiomas in the thigh, requiring emergency surgery following a large hemorrhage. The patient underwent sclerotherapy. At the age of 18 months, the child returned with severe anemia and melena. The abdominal CT scan showed gallbladder intussusception secondary to an angioma requiring intestinal resection for hemostasis. At the age of three years, the angiomas worsened with an increase in volume, particularly on the face. The association of the cutaneous and digestive involvement of these venous malformations made us rectify the diagnosis. The patient was put on sirolimus (rapamycin), 2 mg/m2, with good evolution with a delay of 18 months; the patient presents no more episodes of bleeding with regression of the size of cutaneous angiomas. This observation underlines that BS is difficult to diagnose because of its low frequency, that sirolimus was effective and well tolerated in our patient, and that it can be suggested as a good and safe therapeutic option.
{"title":"Bean Syndrome in a Child Treated with Sirolimus: About a Case","authors":"A. Ghanam, A. Elouali, M. Nour, M. Rkain, N. Benajiba, A. Babakhouya","doi":"10.1155/2022/8245139","DOIUrl":"https://doi.org/10.1155/2022/8245139","url":null,"abstract":"Bean syndrome (BS) or blue rubber bleb nevus syndrome is a rare clinical entity characterized by venous malformations mainly in the skin and digestive tract, whose hemorrhagic complications can be life threatening. We report a case of Bean syndrome in a 3-year-old child of nonconsanguineous parents, in whom the diagnosis of miliary hemangiomatosis was initially made in view of a huge mass on the left thigh, taking the knee, and then the progressive appearance of a skin disorder with bluish swellings of variable sizes spread over the whole body. The patient was put on beta-blockers but without improvement. The evolution was marked by an increase in the volume of the thigh mass. Ultrasound exploration coupled with Doppler imaging revealed the presence of angiomas in the thigh, requiring emergency surgery following a large hemorrhage. The patient underwent sclerotherapy. At the age of 18 months, the child returned with severe anemia and melena. The abdominal CT scan showed gallbladder intussusception secondary to an angioma requiring intestinal resection for hemostasis. At the age of three years, the angiomas worsened with an increase in volume, particularly on the face. The association of the cutaneous and digestive involvement of these venous malformations made us rectify the diagnosis. The patient was put on sirolimus (rapamycin), 2 mg/m2, with good evolution with a delay of 18 months; the patient presents no more episodes of bleeding with regression of the size of cutaneous angiomas. This observation underlines that BS is difficult to diagnose because of its low frequency, that sirolimus was effective and well tolerated in our patient, and that it can be suggested as a good and safe therapeutic option.","PeriodicalId":9623,"journal":{"name":"Case Reports in Pediatrics","volume":"20 1","pages":""},"PeriodicalIF":0.9,"publicationDate":"2022-05-24","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"90145097","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. Calcaterra, R. Lamberti, C. Viggiano, P. Baldassarre, L. Spaccini, R. Alfano, G. Izzo, L. Valentini, G. Zuccotti
Introduction. Pituitary differentiation involves a large number of transcription factors. In particular, BMP4 expression is fundamental for pituitary gland commitment from the ventral diencephalon, suppressing Shh expression in Rathke's pouch. Pathogenic variants in BMP4 are reported in the literature with a broad phenotypic spectrum, including pituitary and brain malformations. Case Presentation. A five-year-old girl came to medical attention following a mild cervical trauma with onset of cervical pain. On clinical examination at birth, postaxial polydactyly type B of the left hand was observed and removed at 10 months of age. A cervical radiography was performed, and a suspicion of craniocervical junction malformation was made. A magnetic resonance imaging of the cervical spine was made, showing an ectopic posterior pituitary, associated with dysmorphism of the craniocervical junction. The anthropometric parameters were pubertal Tanner stage 1, weight 16 kg (z-score: −1.09), height 107 cm (z-score: −0.76), and BMI 14 kg/m2 (z-score: −0.92). Normal hormonal assessment was detected. Genetic analysis via next generation sequencing showed a novel de novo heterozygous variant (c.277 G > T, p.Glu93∗) in exon 3 of BMP4. Discussion. We described a novel mutation in BMP4, resulting in ectopic posterior pituitary with normal hormonal assessment, associated to craniocervical junction dysmorphism and limb anomaly. It is important to monitor patient's growth and puberty and to screen the onset of symptoms related to the deficiency of one or more anterior as well as posterior pituitary hormones.
介绍。垂体分化涉及大量的转录因子。特别是,BMP4的表达是腹侧间脑垂体承诺的基础,抑制Rathke's袋中的Shh表达。文献报道BMP4的致病变异具有广泛的表型谱,包括垂体和脑畸形。案例演示。一名五岁女孩因轻微颈椎外伤并伴有颈部疼痛而入院就医。出生时临床检查,观察到左手轴后多指B型,并在10月龄时切除。进行了颈椎x线摄影,并怀疑颅颈交界处畸形。颈椎磁共振成像显示垂体后叶异位,伴有颅颈交界处畸形。人体测量参数为青春期Tanner期1,体重16 kg (z-score:−1.09),身高107 cm (z-score:−0.76),BMI 14 kg/m2 (z-score:−0.92)。激素评估正常。通过下一代测序分析发现,在BMP4的外显子3上发现了一个新的杂合变异(c.277 G > T, p.Glu93 *)。讨论。我们描述了一种新的BMP4突变,导致垂体后叶异位,激素评估正常,与颅颈交界处畸形和肢体异常有关。重要的是监测患者的生长和青春期,并筛查与一种或多种垂体前叶和垂体后叶激素缺乏相关的症状。
{"title":"Novel Variant in Exon 3 of the BMP4 Gene Resulted in Ectopic Posterior Pituitary, Craniocervical Junction Dysmorphism and Limb Anomaly","authors":"V. Calcaterra, R. Lamberti, C. Viggiano, P. Baldassarre, L. Spaccini, R. Alfano, G. Izzo, L. Valentini, G. Zuccotti","doi":"10.1155/2022/8059409","DOIUrl":"https://doi.org/10.1155/2022/8059409","url":null,"abstract":"Introduction. Pituitary differentiation involves a large number of transcription factors. In particular, BMP4 expression is fundamental for pituitary gland commitment from the ventral diencephalon, suppressing Shh expression in Rathke's pouch. Pathogenic variants in BMP4 are reported in the literature with a broad phenotypic spectrum, including pituitary and brain malformations. Case Presentation. A five-year-old girl came to medical attention following a mild cervical trauma with onset of cervical pain. On clinical examination at birth, postaxial polydactyly type B of the left hand was observed and removed at 10 months of age. A cervical radiography was performed, and a suspicion of craniocervical junction malformation was made. A magnetic resonance imaging of the cervical spine was made, showing an ectopic posterior pituitary, associated with dysmorphism of the craniocervical junction. The anthropometric parameters were pubertal Tanner stage 1, weight 16 kg (z-score: −1.09), height 107 cm (z-score: −0.76), and BMI 14 kg/m2 (z-score: −0.92). Normal hormonal assessment was detected. Genetic analysis via next generation sequencing showed a novel de novo heterozygous variant (c.277 G > T, p.Glu93∗) in exon 3 of BMP4. Discussion. We described a novel mutation in BMP4, resulting in ectopic posterior pituitary with normal hormonal assessment, associated to craniocervical junction dysmorphism and limb anomaly. It is important to monitor patient's growth and puberty and to screen the onset of symptoms related to the deficiency of one or more anterior as well as posterior pituitary hormones.","PeriodicalId":9623,"journal":{"name":"Case Reports in Pediatrics","volume":"29 1","pages":""},"PeriodicalIF":0.9,"publicationDate":"2022-05-19","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"75757681","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}
A 9-year-old boy with a 16 cm chest wall mass, presenting with progressive cough and exertional dyspnea, was finally diagnosed with Ewing sarcoma of the rib. Such massive tumors usually present with metastasis and carry a bad prognosis. Fortunately, we present here a successful treatment approach for Ewing sarcoma of the ribs, defeating the overwhelming obstacles commonly faced in chest wall tumors. Delays in diagnosis, misdiagnosis, difficulty with general anesthesia, opportunistic infections, disruptions in chemotherapy delivery, and debilitating chest wall deformities are all potential challenges that could complicate the course of treatment.
{"title":"A Massive Ewing Sarcoma of the Rib: A Case Report with Literature Review","authors":"Naseem Fahad, Dima Hamideh, Rana Zareef, S. Akel","doi":"10.1155/2022/6921004","DOIUrl":"https://doi.org/10.1155/2022/6921004","url":null,"abstract":"A 9-year-old boy with a 16 cm chest wall mass, presenting with progressive cough and exertional dyspnea, was finally diagnosed with Ewing sarcoma of the rib. Such massive tumors usually present with metastasis and carry a bad prognosis. Fortunately, we present here a successful treatment approach for Ewing sarcoma of the ribs, defeating the overwhelming obstacles commonly faced in chest wall tumors. Delays in diagnosis, misdiagnosis, difficulty with general anesthesia, opportunistic infections, disruptions in chemotherapy delivery, and debilitating chest wall deformities are all potential challenges that could complicate the course of treatment.","PeriodicalId":9623,"journal":{"name":"Case Reports in Pediatrics","volume":"120 1","pages":""},"PeriodicalIF":0.9,"publicationDate":"2022-05-14","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"82246743","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}
Catastrophic antiphospholipid syndrome (CAPS) is an infrequent but feared life-threatening complication of antiphospholipid syndrome (APS). CAPS is characterized by the rapid development of numerous thromboses across multiple organs resulting in multiorgan failure. It is rare but well-documented in the adult population. In contrast, it is exceedingly uncommon in pediatric patients and therefore not yet well described in the pediatric literature. Early recognition of APS is of the utmost importance to provide timely and effective management for a positive outcome. We present the case of an 11-year-old girl with history of systemic lupus erythematosus (SLE) and hypertension (HTN) who presented with acute onset altered mental status, found to have a large ischemic middle cerebral artery (MCA) and anterior cerebral artery (ACA) stroke as well as multiple, diffuse, and smaller ischemic lesions in the frontal lobe and cerebellum. Her presentation was further complicated by thrombocytopenia and renal and splenic infarction, as well as thrombosis of the right brachial vein consistent with a diagnosis of CAPS.
{"title":"Catastrophic Antiphospholipid Syndrome Presenting as a Stroke in an 11-Year-Old with Lupus","authors":"B. Senken, A. Whitehead","doi":"10.1155/2022/7890566","DOIUrl":"https://doi.org/10.1155/2022/7890566","url":null,"abstract":"Catastrophic antiphospholipid syndrome (CAPS) is an infrequent but feared life-threatening complication of antiphospholipid syndrome (APS). CAPS is characterized by the rapid development of numerous thromboses across multiple organs resulting in multiorgan failure. It is rare but well-documented in the adult population. In contrast, it is exceedingly uncommon in pediatric patients and therefore not yet well described in the pediatric literature. Early recognition of APS is of the utmost importance to provide timely and effective management for a positive outcome. We present the case of an 11-year-old girl with history of systemic lupus erythematosus (SLE) and hypertension (HTN) who presented with acute onset altered mental status, found to have a large ischemic middle cerebral artery (MCA) and anterior cerebral artery (ACA) stroke as well as multiple, diffuse, and smaller ischemic lesions in the frontal lobe and cerebellum. Her presentation was further complicated by thrombocytopenia and renal and splenic infarction, as well as thrombosis of the right brachial vein consistent with a diagnosis of CAPS.","PeriodicalId":9623,"journal":{"name":"Case Reports in Pediatrics","volume":"81 1","pages":""},"PeriodicalIF":0.9,"publicationDate":"2022-05-13","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"81662807","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}
Yuya Kinoshita, H. Ueno, H. Kurata, Chizuru Ikeda, Erika Hori, Takumi Okada, T. Shimazu, I. Fujii, Makoto Matsukura, Hoseki Imamura
Perampanel is a noncompetitive, α-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid glutamate receptor antagonist. Herein, we report a case of increased perampanel plasma concentration and impaired consciousness triggered by an infection. The patient had refractory epilepsy associated with hemimegalencephaly. During adolescence, perampanel (maximum dose, 10 mg, oral), valproic acid, clobazam, and lacosamide were administered for seizure control. He was admitted to our hospital with high fever, impaired consciousness, and elevated perampanel plasma level (from 1,300 to 1,790 ng/mL), but with no increase in the concentration of other antiseizure medications. Further examinations (blood, cerebrospinal fluid, brain magnetic resonance images, and electroencephalogram) revealed no physical cause for impaired consciousness. After discontinuation of perampanel, his level of consciousness gradually improved. The pharmacokinetics of perampanel may be modified by both hemimegalencephaly and infection, resulting in an elevated plasma concentration of perampanel. This case underlines the importance of monitoring perampanel plasma concentration in patients with underlying brain disease who develop an infection.
{"title":"Infection-Induced Elevated Plasma Perampanel in a Patient with Hemimegalencephaly","authors":"Yuya Kinoshita, H. Ueno, H. Kurata, Chizuru Ikeda, Erika Hori, Takumi Okada, T. Shimazu, I. Fujii, Makoto Matsukura, Hoseki Imamura","doi":"10.1155/2022/9844820","DOIUrl":"https://doi.org/10.1155/2022/9844820","url":null,"abstract":"Perampanel is a noncompetitive, α-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid glutamate receptor antagonist. Herein, we report a case of increased perampanel plasma concentration and impaired consciousness triggered by an infection. The patient had refractory epilepsy associated with hemimegalencephaly. During adolescence, perampanel (maximum dose, 10 mg, oral), valproic acid, clobazam, and lacosamide were administered for seizure control. He was admitted to our hospital with high fever, impaired consciousness, and elevated perampanel plasma level (from 1,300 to 1,790 ng/mL), but with no increase in the concentration of other antiseizure medications. Further examinations (blood, cerebrospinal fluid, brain magnetic resonance images, and electroencephalogram) revealed no physical cause for impaired consciousness. After discontinuation of perampanel, his level of consciousness gradually improved. The pharmacokinetics of perampanel may be modified by both hemimegalencephaly and infection, resulting in an elevated plasma concentration of perampanel. This case underlines the importance of monitoring perampanel plasma concentration in patients with underlying brain disease who develop an infection.","PeriodicalId":9623,"journal":{"name":"Case Reports in Pediatrics","volume":"29 1","pages":""},"PeriodicalIF":0.9,"publicationDate":"2022-04-29","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"78213813","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}