scholarly journals Lupus anticoagulant in children – a confounding factor in diagnosis and targeted therapy

2021 ◽  
Vol 29 (3) ◽  
pp. 287-298
Author(s):  
Cristian Jinca ◽  
Margit Serban ◽  
Emilia Ursu ◽  
Nicoleta Anamaria Pascalau ◽  
Oana Belei ◽  
...  

Abstract Introduction: Lupus anticoagulant (LAC) belongs to a heterogeneous group of antibodies directed against negatively charged phospholipid-binding proteins, inhibiting phospholipid-dependent reactions. We assessed the frequency, etiological background, clinical and biological expression as well as the appropriate management and outcome of LAC in a pediatric population. Patients and methods: We included 19 pediatric patients diagnosed with a positive LAC test during a period of 1 year. LAC detection was carried out according to the ISTH/SCC guidelines 2012. Coagulometric assays were performed in order to check for coagulation factor activities. The presence of specific inhibitors has been tested by the Bethesda assay. Results: LAC was positive in 0.4% of the patients monitored for increased activated partial thromboplastin time (aPTT) during the study period of 1 year. In contrast to the asymptomatic clinical image presented by the majority of our patients, the biological picture was dominated by an elevated aPTT (79 %), the aPTT ratio correlating significantly with the strength of LAC. In 58 % of the patients LAC became negative within 12 weeks, in another 4 (21%) patients within 20 weeks, whereas in 4 (21%) patients LAC remained positive throughout the follow-up. Conclusion: Albeit usually innocent in asymptomatic patients, LAC needs to be seriously taken into consideration from the diagnostic point of view in order to avoid dangerous therapeutic attitudes..

2021 ◽  
pp. 112067212110206
Author(s):  
Iliya Simantov ◽  
Lior Or ◽  
Inbal Gazit ◽  
Biana Dubinsky-Pertzov ◽  
David Zadok ◽  
...  

Background: Retrospective cohort study evaluating long term keratoconus progression amongst cross-linking (CXL) treated pediatric patients in the treated and the fellow untreated eyes. Methods: Data on 60 eyes of 30 patients, 18 years old or younger, who underwent CXL in at least one eye was collected and analyzed. Follow-up measurements taken from the treated and untreated eye up to 7 years after CXL treatment, were compared to baseline measurements. Parameters included uncorrected distance visual acuity (UCDVA), best-corrected spectacle visual acuity (BCSVA), manifest refraction, pachymetry, corneal tomography, and topography. Results: Mean age of patients was 16 ± 2.1 years. For the treated eyes, during follow-up period mean UCDVA had improved (from 0.78 ± 0.22 at baseline to 0.58 ± 0.26 logMAR at 7 years; p = 0.13), as well as mean BCSVA (from 0.23 ± 0.107 at baseline to 0.172 ± 0.05 logMAR at 7 years; p = 0.37). The mean average keratometry showed a significant flattening (from 49.95 ± 4.04 to 47.94 ± 3.3 diopters (D); p < 0.001), However there was no change in the mean maximal keratometry. The mean minimal corneal thickness (MCT) showed a significant mild reduction of 26 µm ( p = 0.006). Although statistically insignificant, the mean manifest cylinder was also reduced to 2D ( p = 0.15). During the follow-up period, eight untreated eyes (26.6%) deteriorated and underwent CXL, while only one treated eye (3.33%) required an additional CXL. Conclusion: CXL is a safe and efficient procedure in halting keratoconus progression in the pediatric population, the fellow eye needs to be carefully monitored but only a 25% of the patients will require CXL in that eye during a period of 7 years.


2008 ◽  
Vol 1 (4) ◽  
pp. 337-342 ◽  
Author(s):  
Matthew J. McGirt ◽  
Frank J. Attenello ◽  
Daniel M. Sciubba ◽  
Ziya L. Gokaslan ◽  
Jean-Paul Wolinsky

✓ Pediatric basilar invagination and cranial settling have traditionally been approached through a transoral–transpharyngeal route with or without extended maxillotomy or mandibulotomy for resection of the anterior portion of C-1 and the odontoid. The authors hypothesize that application of a recently described endoscopic transcervical odontoidectomy (ETO) technique would allow an alternative approach for the treatment of ventral pathological entities at the craniocervical junction in pediatric patients. The authors performed ETO in a consecutive series of pediatric patients presenting with myelopathy or bulbar dysfunction resulting from basilar invagination or cranial settling. All clinical, radiographic, surgical, and follow-up data were prospectively collected. The initial experience with ETO in the pediatric population is analyzed and outcomes are reported. Three patients required ETO for basilar invagination and 1 required ETO with anterior C-1 arch and distal clivus resection for cranial settling. All patients presented with myelopathy. One patient was wheelchair bound with severe quadriparesis. The mean age was 14 ± 3 years (mean ± standard deviation [SD]) in the 2 male and 2 female patients. The ETO and posterior fusion were performed as a 2-stage procedure in 2 (50%) and as a single-stage procedure in 2 (50%) cases. Prolonged intubation or postoperative placement of a gastrostomy tube was not needed in any case. The postoperative hospitalization lasted 9 ± 4 days (mean ± SD). At last follow-up (mean 5 months), head and neck pain had resolved and motor strength had improved or stabilized in all cases. All 4 children were independently functioning and ambulatory at the last follow-up. In the authors' initial experience, ETO has allowed ventral brainstem decompression without the need for prolonged intubation, worsening dysphagia requiring enteral tube feeding, or prolonged hospitalization, and has resulted in cosmetically appealing results. The ETO technique allows an alternative approach for the treatment of ventral pathological entities at the craniocervical junction in pediatric patients.


2018 ◽  
Vol 22 (4) ◽  
pp. 444-452 ◽  
Author(s):  
Hannah E. Goldstein ◽  
Brett E. Youngerman ◽  
Belinda Shao ◽  
Cigdem I. Akman ◽  
Arthur M. Mandel ◽  
...  

OBJECTIVEPatients with medically refractory localization-related epilepsy (LRE) may be candidates for surgical intervention if the seizure onset zone (SOZ) can be well localized. Stereoelectroencephalography (SEEG) offers an attractive alternative to subdural grid and strip electrode implantation for seizure lateralization and localization; yet there are few series reporting the safety and efficacy of SEEG in pediatric patients.METHODSThe authors review their initial 3-year consecutive experience with SEEG in pediatric patients with LRE. SEEG coverage, SOZ localization, complications, and preliminary seizure outcomes following subsequent surgical treatments are assessed.RESULTSTwenty-five pediatric patients underwent 30 SEEG implantations, with a total of 342 electrodes placed. Ten had prior resections or ablations. Seven had no MRI abnormalities, and 8 had multiple lesions on MRI. Based on preimplantation hypotheses, 7 investigations were extratemporal (ET), 1 was only temporal-limbic (TL), and 22 were combined ET/TL investigations. Fourteen patients underwent bilateral investigations. On average, patients were monitored for 8 days postimplant (range 3–19 days). Nearly all patients were discharged home on the day following electrode explantation.There were no major complications. Minor complications included 1 electrode deflection into the subdural space, resulting in a minor asymptomatic extraaxial hemorrhage; and 1 in-house and 1 delayed electrode superficial scalp infection, both treated with local wound care and oral antibiotics.SEEG localized the hypothetical SOZ in 23 of 25 patients (92%). To date, 18 patients have undergone definitive surgical intervention. In 2 patients, SEEG localized the SOZ near eloquent cortex and subdural grids were used to further delineate the seizure focus relative to mapped motor function just prior to resection. At last follow-up (average 21 months), 8 of 15 patients with at least 6 months of follow-up (53%) were Engel class I, and an additional 6 patients (40%) were Engel class II or III. Only 1 patient was Engel class IV.CONCLUSIONSSEEG is a safe and effective technique for invasive SOZ localization in medically refractory LRE in the pediatric population. SEEG permits bilateral and multilobar investigations while avoiding large craniotomies. It is conducive to deep, 3D, and perilesional investigations, particularly in cases of prior resections. Patients who are not found to have focally localizable seizures are spared craniotomies.


2013 ◽  
Vol 12 (4) ◽  
pp. 317-324 ◽  
Author(s):  
Michelle A. Holman ◽  
William R. Schmitt ◽  
Matthew L. Carlson ◽  
Colin L. W. Driscoll ◽  
Charles W. Beatty ◽  
...  

Object The aim in this study was to describe the clinical presentation, differential diagnosis, and risk for neurofibromatosis Type 2 (NF2) in pediatric patients presenting with cerebellopontine angle (CPA) and internal auditory canal (IAC) tumors. Methods The authors conducted a retrospective study at a tertiary care academic referral center. All patients with an age ≤ 18 years who had presented with an extraaxial CPA or IAC tumor between 1987 and 2012 were included in the study cohort. Data regarding symptoms, diagnosis, tumor characteristics, and NF2 status were collected and analyzed. Results Sixty patients (55% female, 45% male) harboring 87 tumors were identified. The mean age at diagnosis was 12.8 years (median 14.0 years, range 0.9–18.9 years). Schwannomas were the most commonly identified lesions (57 of 87 tumors, including 52 vestibular, 3 facial, and 2 trigeminal schwannomas), followed by meningiomas (5 of 87) and epidermoid cysts (4 of 87). Six malignant tumors were diagnosed, including small-cell sarcoma, squamous cell carcinoma, malignant meningioma, atypical rhabdoid-teratoid tumor, endolymphatic sac tumor, and malignant ganglioglioma. Headache, followed by hearing loss and imbalance, was the most common presenting symptom, whereas dysphagia, otalgia, and facial pain were uncommon. Neurofibromatosis Type 2 was diagnosed in 20 (61%) of 33 patients with vestibular schwannoma (VS), while the other 13 patients (39%) had sporadic tumors. Nineteen of the 20 patients with NF2 met the diagnostic criteria for that disorder on initial presentation, and 15 of them presented with bilateral VS. At the last follow-up, 19 of the 20 patients subsequently diagnosed with NF2 demonstrated bilateral VSs, whereas 1 patient with a unilateral VS and multiple other NF2-associated tumors has yet to demonstrate a contralateral VS to date. Only 1 patient presenting with an isolated unilateral VS and no family history of NF2 demonstrated a contralateral VS on subsequent radiological screening. Conclusions Cerebellopontine angle and IAC tumors in the pediatric population are rare. There are several noteworthy differences between the adult and pediatric populations harboring these lesions. While VS is the most common pathology in both age groups, the lesion was found in only 60% of the pediatric patients in the present study. Unlike in adults, VSs in the pediatric population were associated with NF2 in over one-half of all cases. The majority of pediatric patients with NF2 fulfilled the diagnostic criteria at initial presentation; however, approximately 7% of patients presenting with a seemingly sporadic (no family history of NF2) unilateral VS will meet the criteria for NF2 later in life. Finally, malignancies account for a significantly higher percentage (10%) of cases among pediatric patients. These findings underscore the importance of early screening and close radiological follow-up and may be helpful in patient counseling.


2008 ◽  
Vol 1 (4) ◽  
pp. 296-304 ◽  
Author(s):  
David Hung-Chi Pan ◽  
Yu-Hung Kuo ◽  
Wan-Yuo Guo ◽  
Wen-Yuh Chung ◽  
Hsiu-Mei Wu ◽  
...  

Object Studies on the efficacy of arteriovenous malformation (AVM) radiosurgery have largely been conducted in the adult population. Clinically, the results may not always be applicable to pediatric patients. Moreover, studies involving the pediatric population have largely comprised small- (< 3 cm3) and medium-sized (3–10 cm3) AVMs. For large (> 10 cm3) AVMs in children, sparse radiosurgical results are available. The current study was conducted to further clarify the role of radiosurgery in the treatment of pediatric AVMs. Methods A retrospective analysis was performed of data obtained in 105 pediatric patients (< 18 years of age) with cerebral AVMs treated by Gamma Knife surgery (GKS) between 1993 and 2006. For statistical comparison the authors studied data acquired in 458 adult patients with AVMs treated during the same period. The patients underwent follow-up magnetic resonance imaging at 6-month intervals. Cerebral angiography was used to confirm the obliteration of the AVM. Results In pediatric patients, the AVM obliteration rate at 48 months after a primary GKS was 65%. Repeated GKS in those in whom primary treatments failed further ablated some AVMs, for an overall obliteration rate of 81%. The efficacy of GKS correlated with the size of the AVM: 91% for small, 86% for medium, and 64% for large AVMs. The treatments were associated with an 8% morbidity rate and < 1% mortality rate. Posttreatment hemorrhage occurred in 4 (4%) of 105 patients. Obliteration rates at 48 months of small and extremely large (> 20 cm3) AVMs were similar in the pediatric and adult groups, whereas AVMs between 3 and 10 cm3 responded less efficaciously in children (p = 0.042). The AVMs with volumes ranging from 10 to 20 cm3 were also associated with a lower obliteration rate in children at 48 months, but statistical significance was not reached (p = 0.279). Conclusions Gamma Knife surgery is an effective and safe treatment alternative for pediatric AVMs. The medium (3–10-cm3) and large (10–20-cm3) AVMs tend to respond less efficaciously than those of comparable size in adults.


2010 ◽  
Vol 5 (1) ◽  
pp. 49-60 ◽  
Author(s):  
John A. Jane ◽  
Daniel M. Prevedello ◽  
Tord D. Alden ◽  
Edward R. Laws

Object The majority of pediatric craniopharyngiomas are treated using a transcranial approach. Although there is an increasing acceptance of transsphenoidal resection in adults, there are few reports describing this approach in the pediatric population. The purpose of this study is to report the outcomes after transsphenoidal surgery in a consecutive series of pediatric patients with craniopharyngiomas treated at a single institution with the goal of gross-total resection (GTR). Methods Twenty-three patients with pathologically proven craniopharyngiomas were identified who were 18 years of age or less at the time of surgery. The medical records and imaging studies of the patients were retrospectively reviewed. One patient who was lost to follow-up after surgery was excluded. Results Among the 22 patients included in the study, 11 underwent transsphenoidal surgery as the primary procedure and 11 underwent transsphenoidal surgery as a secondary procedure after a previous procedure. All patients had at least some sellar component to their tumor and all had either anterior or posterior pituitary dysfunction at presentation. In the entire cohort, a GTR was achieved in 15 (68%) of 22 patients, a radical subtotal resection in 4 (18%) of 22 patients, a subtotal resection in 1 patient, and a partial resection in 2 patients. The degree of resection was higher in the primary transsphenoidal group. After a mean follow-up of 82 months, 4 patients (18%) experienced recurrence. Recurrence occurred in 13% after GTR compared with 28.5% after all other degrees of resection. Tumor recurred in 9% of the primary transsphenoidal group and in 30% of patients who had undergone other therapies prior to the transsphenoidal operation. No patient who had panhypopituitarism experienced a gain of function postoperatively, 67% developed new panhypopituitarism, and 56% experienced new diabetes insipidus. Vision improved or normalized in 9 (64%) of 14 patients presenting with visual loss. Complications included 1 death 3 weeks postoperatively, 2 CSF leaks, and new obesity in 37%. Conclusions Transsphenoidal resection of pediatric craniopharyngiomas results in a high rate of both visual improvement and GTR with a low associated risk of recurrence. The transsphenoidal approach should be considered in selected pediatric patients with craniopharyngioma, especially those with infradiaphragmatic origin.


2019 ◽  
Vol 50 (03) ◽  
pp. 188-192
Author(s):  
Saša Ilovar ◽  
Mirjana Benedik ◽  
Tina Vesnaver ◽  
Damjan Osredkar

Background Brain aneurysms are rare in the pediatric population. The diagnosis of a brain aneurysm in a child may be difficult because of its infrequency and often subtle or nonspecific clinical presentation. Endovascular therapy and microsurgical treatment are increasingly used approaches in treating children, possibly contributing to favorable outcomes if patients are treated in a timely manner. Objective We were interested in the clinical presentation, symptoms, diagnostics, treatment, and follow-up of pediatric patients with brain aneurysms in Slovenia. Methods This was a retrospective review of medical documentation of children with intracranial aneurysms treated at the University Children's Hospital in Ljubljana, Slovenia, from January 1998 to December 2017. Results We identified a cohort of eight children (median age: 14.9 years; range: 2.8–17.7). The estimated incidence of pediatric brain aneurysms in Slovenia is 0.12/100,000 children per year. We observed a male predominance (1.7:1). Half of the patients presented with acute onset of neurologic symptoms and three with subarachnoid hemorrhage. One of the patients had a related stroke. The presenting symptoms were tonic–clonic seizures, hemiparesis, paresthesias, speech disturbance, and cranial nerve palsy. The other half of aneurysms were identified incidentally. Five patients had anterior circulation aneurysms; the most prevalent location was the internal carotid artery. One patient was treated with surgical procedures, four patients were treated with endovascular procedures, and three patients were treated conservatively. Outcome was excellent in all patients. Conclusion Endovascular interventions and microsurgical procedures appear to be safe and effective in the treatment of brain aneurysms in the pediatric population. Asymptomatic patients with brain aneurysms need close follow-up.


2020 ◽  
Vol 20 (3) ◽  
pp. 351-355 ◽  
Author(s):  
Paola Giordano ◽  
Maurizio Delvecchio ◽  
Giuseppe Lassandro ◽  
Federica Valente ◽  
Valentina Palladino ◽  
...  

Background: Immune thrombocytopenia (ITP) is an acquired immune mediated disorder characterized by isolated thrombocytopenia. Pediatric ITP patients can develop autoantibodies such as anti-thyroglobulin (TG) and anti-thyroperoxidase (TPO), even in the absence of clinical signs of autoimmune disease. Objective: The purpose of this article is to provide a review about: 1) the prevalence of positivity of anti-thyroid antibodies (TPO and TG) in pediatric patients with chronic ITP; 2) the role of autoimmune thyroiditis on the outcome of chronic ITP. Method: The authors individually completed a review of the literature for this article. Retrospective and prospective clinical studies with pediatric cohorts were considered. Results: From the analysis of data, we found 4 papers which included studies only on pediatric population, and which corresponded to selected criteria. Pediatric ITP patients have been shown to have a statistically significant prevalence of anti-thyroid antibodies over healthy controls (11.6-36% versus 1.2-1.3%). No correlation has been found between the platelet count and the prevalence of positive anti-thyroid antibodies at any time of the follow up. Conclusion: The results of our bibliographic research demonstrated that: a) pediatric patients with chronic ITP tend to have a statistically significant prevalence of anti-thyroid antibodies positivity respect to general pediatric population; b) there are no clear data about the role of autoimmune thyroiditis as prognostic factor for chronic course of ITP in pediatric age.


2018 ◽  
Vol 6 (3) ◽  
pp. 232596711876311 ◽  
Author(s):  
S. Clifton Willimon ◽  
Tim Schrader ◽  
Crystal A. Perkins

Background: Pigmented villonodular synovitis (PVNS) is a benign proliferative synovial disorder most commonly described to affect the knee in adults. Literature describing PVNS in the pediatric population is limited to 2 small case series and a handful of single-patient case reports. Within these studies, only 2 patients with PVNS of the hip are described. Purpose: To describe the presentation, management, and outcomes of a single-center series of pediatric patients with PVNS of the hip treated with arthroscopic synovectomy. Study Design: Case series; Level of evidence, 4. Methods: A retrospective review of consecutive pediatric patients treated for PVNS at a single institution was performed. Inclusion criteria consisted of patients younger than 19 years with surgically treated PVNS of the hip. Results: Five pediatric patients with a mean age of 11.0 years were treated for PVNS of the hip from 2011 to 2016. The mean duration of symptoms from onset to surgical treatment was 247 days (range, 3-933 days). Upon review of magnetic resonance imaging (MRI) results, radiologists included PVNS in their differential in 3 patients. Seven surgeries were performed in 5 patients. All therapeutic procedures were arthroscopic synovectomies. Nodular PVNS was present in 4 patients, and diffuse disease was present in 1 patient. At a mean 32-month follow-up (range, 12-63 months), all patients were considered to be free of recurrence based on clinical examination and/or follow-up MRI. Four patients were asymptomatic and returned to all of their previous sports activities. Conclusion: Young age at the time of diagnosis is a point to be highlighted in this cohort, and symptoms may be present for many months prior to diagnosis due to the failure to consider PVNS in children. Therefore, for patients with “atypical” presentations or lack of improvement with treatment for rheumatologic, bleeding, or infectious disorders, PVNS should be strongly considered. MRI with gradient echo sequences is the diagnostic imaging study of choice. One patient with diffuse involvement and preoperative degenerative changes showed progressive changes postoperatively. This type of PVNS may have a worse prognosis, but more diffuse cases are needed before the prognosis can be determined. Arthroscopic synovectomy following a timely diagnosis of PVNS produces good outcomes in nodular cases, with no evidence of symptomatic or radiographic disease persistence among these patients.


2020 ◽  
pp. neurintsurg-2020-016183
Author(s):  
Katriel E Lee ◽  
Aqib Zehri ◽  
Sauson Soldozy ◽  
Hasan Syed ◽  
Joshua S Catapano ◽  
...  

BackgroundDural venous sinus stenting (VSS) is an effective treatment for idiopathic intracranial hypertension (IIH) in adult patients. There are no published series to date evaluating safety and efficacy of VSS in pediatric patients.ObjectiveTo report on procedural device selection and technique as well as safety and efficacy of VSS for pediatric patients with medically refractory IIH due to underlying venous sinus stenosis.MethodsA multi-institutional retrospective case series identified patients with medically refractory IIH aged less than 18 years who underwent VSS.Results14 patients were identified at four participating centers. Patient ages ranged from 10 to 17 years, and 10 patients (71.4%) were female. Mean body mass index was 25.7 kg/m2 (range 15.8–34.6 kg/m2). Stenting was performed under general endotracheal anesthesia in all except two patients. The average trans-stenotic gradient during diagnostic venography was 10.6 mm Hg. Patients had stents placed in the superior sagittal sinus, transverse sinus, sigmoid sinus, occipital sinus, and a combination. Average follow-up was 1.7 years after stenting. Six patients out of 10 (60%) had reduced medication dosing, 12 of 14 patients (85.7%) had improvements in headaches, two patients (100%) with pre-stent tinnitus had resolution of symptoms, and four (80%) of five patients with papilledema had improvement on follow-up ophthalmological examinations. Two patients (14.3%) developed postprocedural groin hematomas, one patient (7.1%) developed a groin pseudoaneurysm, and one patient (7.1%) had postprocedural groin bleeding. No other procedural complications occurred. Four patients (28.6%) required further surgical treatment (cerebrospinal shunting and/or stenting) after their first stenting procedure.ConclusionsThis series suggests that VSS is feasible in a pediatric population with IIH and has a low complication rate and good clinical outcomes.


Sign in / Sign up

Export Citation Format

Share Document