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Granulomatosis with Polyangiitis Misdiagnosed as IgA Vasculitis in a Child. 儿童肉芽肿合并多血管炎误诊为IgA血管炎1例。
IF 0.9 Q4 PEDIATRICS Pub Date : 2023-01-01 DOI: 10.1155/2023/9950855
Sheida Amini, Mohsen Jari

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.

背景:早期表现类似IgA血管炎的肉芽肿性多血管炎(GPA)是一种非常罕见的儿童全身性疾病。案例演示。一名10岁男孩,最初表现为皮肤、骨骼和腹部征象提示IgA血管炎。随着时间的推移,皮肤溃疡、睾丸炎和肾脏受累的恶化导致根据抗中性粒细胞胞浆抗体阳性和肾活检诊断GPA。结论:临床医生在对7岁以上儿童IgA血管炎进行临床诊断时应注意诊断误区。
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引用次数: 0
Kawasaki Disease: Unusual Presentation with Retropharyngeal Involvement. 川崎病:有咽后受累的不寻常表现。
IF 0.9 Q4 PEDIATRICS Pub Date : 2023-01-01 DOI: 10.1155/2023/4913700
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.

背景:川崎病是一种病因不明的儿童急性发热性全身性血管综合征。最严重的并发症可累及心脏,包括急性心肌炎伴心脏衰竭、心律失常和冠状动脉动脉瘤。临床典型症状为发热、结膜炎、皮疹、颈淋巴肿大、皮肤粘膜改变,根据临床标准诊断。早期使用阿司匹林和免疫球蛋白可改善症状并预防心脏并发症。案例演示。一名4岁男性患者因多发单侧颈侧淋巴结病、吞咽困难和颈部僵硬而引起我们的注意,最初接受静脉抗生素治疗,症状部分缓解。4个月后,他因颈痛、扁桃体不对称、牙关紧闭、颈部僵硬、跛行、指骨充血和颈部淋巴结增大而重新进入急诊室。影像学显示淋巴结肿大,咽后间隙不对称。当天出现心脏杂音,因此患者接受了心脏学评估,记录了冠状动脉扩张。这一征象使诊断怀疑为川崎病成为可能,并开始静脉注射免疫球蛋白和乙酰水杨酸,反应迅速。结论:川崎病表现出一系列症状,单独来看,这些症状在儿童时期非常常见。其中一种症状是颈部淋巴结肿大。只有临床推理才能导致正确的诊断,从而导致正确的治疗方案,减少并发症的风险。
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引用次数: 0
An Unusual Diagnosis of Sporadic Type III Osteogenesis Imperfecta in the First Day of Life 出生第一天散发性III型成骨不全的罕见诊断
IF 0.9 Q4 PEDIATRICS Pub Date : 2022-06-06 DOI: 10.1155/2022/3251980
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.
成骨不全症(OI)是一组罕见的、永久性的遗传性骨疾病,由编码1型胶原蛋白的基因突变引起。它通常以常染色体显性模式遗传,但有时也会零星发生。在四种主要类型中,ⅲ型最为严重,表现为多处骨折、骨骼畸形、蓝色巩膜、听力和牙齿异常。据估计,2万例成骨不全症中只有1例在婴儿期被发现,而且诊断预后很差。本病例因罕见的新生儿零星成骨不全诊断而被报道。我们提出了一个1天大的新生儿在正常阴道分娩后提到我们的中心低出生体重和多发性骨畸形的观点。体格检查发现一个长相不佳的孩子,吮吸不良,上肢和下肢明显骨畸形,巩膜蓝色。x线显示骨纤细,多处骨折。超声心动图显示4毫米动脉导管未闭。患者被诊断为III型成骨不全伴动脉导管未闭。虽然成骨不全在新生儿和婴儿中很少见,但在新生儿出现多发性骨畸形时,无论其家族史、创伤史或身体虐待史,都应考虑到成骨不全。成骨不全也与心脏异常有关,如房间隔缺损和动脉导管未闭,超声心动图是常规推荐的检查方法。
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引用次数: 0
Self-Injury with Carbamazepine Intoxication in an Elementary School-Aged Child 卡马西平中毒致小学生自伤
IF 0.9 Q4 PEDIATRICS Pub Date : 2022-05-30 DOI: 10.1155/2022/5135456
A. Shieh, Natalie Schellpfeffer
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.
卡马西平是一种常见的抗惊厥药物,用于治疗癫痫,通常被认为是一种安全的药物。我们描述的情况下,一个9岁的女性谁提出急性精神状态改变和呼吸衰竭需要机械通气。通过尿检,她被发现服用了卡马西平,血液检测也证实了这一点。在病情好转后,该患者承认为应对家人的死亡而通过摄入自伤。她接受了完整的精神评估,最终出院,没有永久性的神经系统后遗症。据我们所知,这是第一例卡马西平中毒导致的小学学龄儿童故意自伤。当怀疑出现精神状态改变的儿童中毒时,应调查家中可用的所有药物。青春期前的儿童可能会有非致命的自残行为,诊断需要高度的怀疑。
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引用次数: 0
A Report of Rosai–Dorfman Disease in an Adolescent 青少年Rosai-Dorfman病报告
IF 0.9 Q4 PEDIATRICS Pub Date : 2022-05-26 DOI: 10.1155/2022/9571400
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.
Rosai-Dorfman病(RDD)是一种病因不明的罕见疾病。它是一种良性的自限性疾病,其特征是活化的组织细胞在淋巴结和/或结外组织的窦状窦中积聚。大量宫颈淋巴结病变作为初始表现倾向于增加淋巴瘤的初始几率,因此降低进行简单活检的阈值不能被高估。在此,我们报告一个13岁的青少年谁提出了进行性后左侧颈部肿胀。我们对RDD的诊断是根据文献中所述的组织学和免疫组织化学的S100阳性来建立的。虽然已知这种情况是自限性的,但文献证据和我们的病例管理表明,药物治疗可以加速儿科病例的缓解。
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引用次数: 1
Bean Syndrome in a Child Treated with Sirolimus: About a Case 西罗莫司治疗儿童Bean综合征1例
IF 0.9 Q4 PEDIATRICS Pub Date : 2022-05-24 DOI: 10.1155/2022/8245139
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.
Bean综合征(BS)或蓝橡胶水泡痣综合征是一种罕见的临床症状,主要表现为皮肤和消化道静脉畸形,其出血性并发症可危及生命。我们报告一例无血缘关系的3岁儿童的Bean综合征,患者最初诊断为军事性血管瘤病,因为左侧大腿上有一个巨大的肿块,一直到膝盖,然后逐渐出现全身大小不等的蓝色肿胀。病人服用了受体阻滞剂,但没有好转。进化的标志是大腿体积的增加。超声检查结合多普勒成像显示大腿存在血管瘤,在大出血后需要紧急手术。病人接受了硬化治疗。在18个月大的时候,孩子带着严重的贫血和黑黑回来了。腹部CT扫描显示继发于血管瘤的胆囊肠套叠,需要肠切除术止血。在三岁时,血管瘤随着体积的增加而恶化,特别是在面部。这些静脉畸形的皮肤和消化道的累及使我们纠正了诊断。患者给予西罗莫司(雷帕霉素),2 mg/m2,进展良好,延迟18个月;随着皮肤血管瘤大小的缩小,患者不再出现出血发作。这一观察结果强调,由于其发病率低,BS难以诊断,西罗莫司对我们的患者有效且耐受性良好,可以建议将其作为一种良好且安全的治疗选择。
{"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}
引用次数: 0
Novel Variant in Exon 3 of the BMP4 Gene Resulted in Ectopic Posterior Pituitary, Craniocervical Junction Dysmorphism and Limb Anomaly BMP4基因外显子3的新变异导致垂体后叶异位、颅颈交界处畸形和肢体异常
IF 0.9 Q4 PEDIATRICS Pub Date : 2022-05-19 DOI: 10.1155/2022/8059409
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。
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引用次数: 0
A Massive Ewing Sarcoma of the Rib: A Case Report with Literature Review 肋骨巨大尤文氏肉瘤1例并文献复习
IF 0.9 Q4 PEDIATRICS Pub Date : 2022-05-14 DOI: 10.1155/2022/6921004
Naseem Fahad, Dima Hamideh, Rana Zareef, S. Akel
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.
一名9岁男孩,胸壁肿块16厘米,表现为进行性咳嗽和用力呼吸困难,最终被诊断为肋骨尤因肉瘤。这种巨大的肿瘤通常伴有转移,预后较差。幸运的是,我们在这里提出了一种成功的治疗肋骨尤文氏肉瘤的方法,克服了胸壁肿瘤通常面临的巨大障碍。诊断延误、误诊、全身麻醉困难、机会性感染、化疗递送中断和胸壁衰弱性畸形都是可能使治疗过程复杂化的潜在挑战。
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引用次数: 0
Catastrophic Antiphospholipid Syndrome Presenting as a Stroke in an 11-Year-Old with Lupus 灾难性抗磷脂综合征表现为11岁狼疮患者的中风
IF 0.9 Q4 PEDIATRICS Pub Date : 2022-05-13 DOI: 10.1155/2022/7890566
B. Senken, A. Whitehead
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.
灾难性抗磷脂综合征(CAPS)是抗磷脂综合征(APS)中一种罕见但令人担忧的危及生命的并发症。CAPS的特点是跨多个器官的大量血栓的快速发展导致多器官衰竭。这是罕见的,但在成年人中有充分的记录。相比之下,它在儿科患者中非常罕见,因此尚未在儿科文献中得到很好的描述。早期识别APS对于提供及时有效的管理以获得积极的结果至关重要。我们报告一名患有系统性红斑狼疮(SLE)和高血压(HTN)病史的11岁女孩,表现为急性发作的精神状态改变,发现有一个大的缺血性大脑中动脉(MCA)和大脑前动脉(ACA)中风,以及额叶和小脑的多发,弥漫性和较小的缺血性病变。她的表现进一步复杂化了血小板减少,肾和脾梗死,以及右臂静脉血栓形成,与CAPS的诊断一致。
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引用次数: 2
Infection-Induced Elevated Plasma Perampanel in a Patient with Hemimegalencephaly 感染引起的半巨脑畸形患者血浆Perampanel升高
IF 0.9 Q4 PEDIATRICS Pub Date : 2022-04-29 DOI: 10.1155/2022/9844820
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.
Perampanel是一种非竞争性α-氨基-3-羟基-5-甲基-4-异恶唑丙酸谷氨酸受体拮抗剂。在此,我们报告一例由感染引起的perampanel血浆浓度升高和意识受损。患者有难治性癫痫伴半巨脑畸形。在青少年时期,使用perampanel(最大剂量,10mg,口服)、丙戊酸、氯巴赞和拉科沙胺来控制癫痫发作。患者入院时伴有高热、意识受损、血浆水平升高(从1300至1790 ng/mL),但其他抗癫痫药物浓度未升高。进一步的检查(血液、脑脊液、脑磁共振成像和脑电图)显示意识受损没有物理原因。停药后,患者意识水平逐渐改善。perampanel的药代动力学可能因半大脑畸形和感染而改变,导致perampanel的血浆浓度升高。本病例强调了在发生感染的颅脑疾病患者中监测perampanel血浆浓度的重要性。
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引用次数: 1
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Case Reports in Pediatrics
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