scholarly journals P.030 Clinical findings, immunotherapy and neuroimaging results in Pediatric Anti-NMDA Receptor Encephalitis

2018 ◽  
Vol 45 (s2) ◽  
pp. S24-S24
Author(s):  
R Ogilvie ◽  
F Morneau-Jacob
Keyword(s):  
Pediatric Patients ◽  
Clinical Presentation ◽  
Clinical Manifestations ◽  
Clinical Findings ◽  
Psychiatric Disturbance ◽  
Nmda Receptor Encephalitis ◽  
Nmdar Encephalitis ◽  
Positron Emission ◽  
Cerebral Mri ◽  
Pet Scans

Background: Anti-NMDAR Encephalitis is an autoimmune disease of children and adults which most often presents with sub-acute psychiatric disturbance or seizures, but includes a broad group of potential clinical manifestations. Routine neuroimaging, such as cerebral MRI, is often nonspecific or normal. Methods: This study reports a series of retrospectively reviewed pediatric patients with AntiNMDAR encephalitis with emphasis on the evolution of clinical features over time, cerebral MRI, 18-FDG Positron emission tomography (PET) findings, and post illness neurocognitive features. Results: Four cases of Antibody confirmed AntiNMDAR encephalitis were included, two male and two female, of a mean of 13 years of age. Patients had a mean of three symptom categories by presentation, though many of these were subtle, progressing to 6.5 by the end of the first month. MRI, CSF and EEG were abnormal for one, three and all patients, respectively. All patients had abnormal cerebral PET scans, and all displayed some temporal lobe hypermetabolism on either initial or repeat cerebral PET Scan. Conclusions: Anti-NMDAR encephalitis is a variable disorder with an evolving clinical presentation in children. Temporal hypermetabolism on cerebral PET may be a time dependent feature of the disorder.

scholarly journals Development of Myocardial Infarction in a 12-Year-Old Female after the Use of Inhaled Salbutamol

2020 ◽  
Vol 09 (04) ◽  
pp. 295-298
Author(s):  
Can Yilmaz Yozgat ◽  
Selcuk Uzuner ◽  
Hafize Otcu Temur ◽  
Serap Nur Ergor ◽  
Aynur Guliyeva ◽  
...  
Keyword(s):  
Myocardial Infarction ◽  
Myocardial Ischemia ◽  
Pediatric Patients ◽  
Clinical Manifestations ◽  
Symptomatic Patient ◽  
Clinical Findings ◽  
Close Monitoring ◽  
Myocardial Ischemia And Infarction ◽  
Sporadic Cases ◽  
Tomography Scan

AbstractAnomalous origin of the left coronary artery from the pulmonary artery (ALCAPA) accounts for 0.023% of all cases reported in pediatric patients. According to literature, only a handful of ALCAPA patients are able to reach adulthood. Clinical manifestations of ALCAPA range from fatigue during exercise to sudden death in adulthood. Herein, we described a 12-year-old symptomatic patient with ALCAPA who had severe chest pain after using salbutamol treatment for presumed asthma. ALCAPA is one of the curable versions of myocardial ischemia and infarction in childhood. Due to clinical findings in conjunction with electrocardiogram and echocardiography, a computed tomography scan with coronary angiography was performed and the diagnosis of ALCAPA was confirmed. We presented this case because ALCAPA-related myocardial ischemia and infarction in children are rare with only sporadic cases reported. This case illustrated the need for close monitoring and surgery as the best treatment for ALCAPA associated with myocardial infarction.

Atypical Presentation of Congenital Yellow Nail Syndrome in a 2-Year-Old Female

2013 ◽  
Vol 17 (1) ◽  
pp. 66-68 ◽  
Author(s):  
Michael Cecchini ◽  
Joseph Doumit ◽  
Nordau Kanigsberg
Keyword(s):  
Rare Case ◽  
Pediatric Patients ◽  
Clinical Presentation ◽  
Positive Family History ◽  
Clinical Manifestations ◽  
Clinical Entity ◽  
Unknown Etiology ◽  
Close Monitoring ◽  
Yellow Nail Syndrome ◽  
Atypical Clinical Presentation

Background: Yellow nail syndrome (YNS) is a rare clinical entity of unknown etiology that is characterized by a triad of yellow nails, respiratory manifestations, and lymphedema. The condition appears in the mid- to later years of life and only rarely in childhood. We describe a rare case of YNS with an atypical clinical presentation consisting of only yellow and dystrophic nails in a 2- year-old female since birth. Objective: A case of congenital YNS with only dystrophic and yellow nails is reported. Methods and Results: A 2-year-old female presented with yellow nails since birth. There was no positive family history. Physical examination revealed 20 thickened, dystrophic, yellow nails with onycholysis. There was no evidence of respiratory manifestations or lymphedema. Conclusion: Although rare, YNS can present as a congenital clinical entity and persist after birth. Pediatric patients with YNS show different clinical manifestations than the classic adult patient. The presence of yellow and dystrophic nails in the absence of respiratory and lymphatic manifestations may be the only sign of pathology and warrants close monitoring as progression to more serious complications can occur.

scholarly journals Neurological findings of a series of patients with chromosome 18 trisomy (Edwards syndrome) in mosaic

2021 ◽  
Author(s):  
Bruno Custódio Silva ◽  
Hugo Roberto Sampaio Martins ◽  
Thais Vanessa Salvador ◽  
Guilherme Parmigiani Bobsin ◽  
Paulo Ricardo Gazzola Zen ◽  
...  
Keyword(s):  
Clinical Presentation ◽  
Clinical Manifestations ◽  
Clinical Findings ◽  
Neurological Symptoms ◽  
Clinical Genetics ◽  
Chromosome 18 ◽  
Older Patient ◽  
Internal Organs ◽  
Edwards Syndrome ◽  
History Of

Introduction: Chromosome 18 trisomy or Edwards syndrome (ED) is characterized by wide clinical manifestations, usually associated with neurological symptoms and a poor prognosis. Objective, materials and methods: Describe the clinical findings, especially the neurological ones, of a sample of patients with mosaic chromosome 18 trisomy. These were evaluated at a Clinical Genetics Service from 1975 to 2008. Results: During the study, 50 patients with ED were diagnosed, 5 of them (10%) in mosaic. The average number of cells analyzed in these cases was 27,8. Three of the 5 patients (60%) were male. The age at evaluation ranged from 14 to 5926 days (median 93 days). The small number of clinical findings described was noteworthy, both in the dysmorphological evaluation and complementary exams. The main changes were micrognathia (n = 3), low ears implanted (n = 2), retroverted ears (n = 3), clenched fists with overlapping toes (n = 2) and clubfoot (n = 1). As for internal organs, congenital heart disease was reported in 2 cases (40%). All patients had a history of delayed neuropsychomotor development. The older patient also had a description of cognitive impairment and seizures. Conclusions: The clinical presentation of our patients is consistent with what is described in the literature, since they point out due to small number of changes. However, the delay in neuropsychomotor development and neurological symptoms are constant findings. Thus, pediatricians and neurologists should be aware of this possibility.

scholarly journals Current Progress on Assessing the Prognosis for Anti-N-Methyl-D-Aspartate Receptor (NMDAR) Encephalitis

2020 ◽  
Vol 2020 ◽  
pp. 1-8
Author(s):  
Hao Wang ◽  
Zheng Xiao
Keyword(s):  
Positive Impact ◽  
Treatment Options ◽  
Clinical Manifestations ◽  
Autoimmune Encephalitis ◽  
Antibody Testing ◽  
Aspartate Receptor ◽  
Nmdar Encephalitis ◽  
Behavioral Abnormalities ◽  
Positron Emission ◽  
The Impact

Anti-N-methyl-D-aspartate receptor (NMDAR) encephalitis is the most common antineuronal antibody encephalitis in autoimmune encephalitis found at present. It has complex clinical manifestations such as psychiatric and behavioral abnormalities, seizures, movement disorders, consciousness, and autonomic dysfunction. The relationship between those manifestations and prognosis is unclear. Electroencephalography (EEG) is gradually becoming useful in the evaluation of the prognosis of anti-NMDAR encephalitis patients, while imaging and antibody testing have a limited prognostic value. Starting the patients on adequate treatments (such as immunotherapy) in a timely fashion has a positive impact on their prognosis. Nevertheless, research on the prognosis of anti-NMDAR encephalitis remains scarce. Here, we review the current advances of prognosis-related research from the clinical manifestations of the disease and auxiliary examinations such as EEG, magnetic resonance imaging (MRI), 18F fluorodeoxyglucose positron emission tomography (FDG-PET), and antibody measurement. In addition, we also discuss the impact of different treatment options on prognosis. In-depth research on the prognosis of patients with anti-NMDAR encephalitis will contribute to a better understanding of this disease, leading to better treatments options and, ultimately, a better prognosis.

scholarly journals Approach to Hemophagocytic Syndromes

Hematology ◽  
2011 ◽  
Vol 2011 (1) ◽  
pp. 178-183 ◽  
Author(s):  
Sheila Weitzman
Keyword(s):  
Secretory Pathway ◽  
Clinical Presentation ◽  
Clinical Manifestations ◽  
Clinical Findings ◽  
Clinical Feature ◽  
Target Cells ◽  
Genetic Condition ◽  
Metabolic Conditions ◽  
Common Problems ◽  
Host Tissues

AbstractHemophagocytic lymphohistiocytosis (HLH) is a potentially fatal hyperinflammatory condition. It may occur as a primary (genetic) condition due to mutations in genes important in the cytolytic secretory pathway that cause perforin and granzymes to induce apoptosis in target cells. Primary HLH is divided into familial HLH (FHLH1-5), in which HLH is the only manifestation of disease, and other genetic causes in which HLH is one of several clinical manifestations. The identical clinical findings may arise secondary to infectious, rheumatologic, malignant, or metabolic conditions. Whether primary or secondary, HLH therapy needs to be instituted promptly to prevent irreversible tissue damage. It is helpful to think of HLH as the severe end of the spectrum of hyperinflammatory disorders when the immune system starts to damage host tissues (immunopathology). Therefore, no single clinical feature alone is diagnostic for HLH, and it is important that the entire clinical presentation be considered in making the diagnosis. This article contains a discussion of the genetic background, clinical presentation, diagnostic dilemmas, and features that are helpful in making the diagnosis of HLH, along with a discussion of common problems in its management.

scholarly journals Reporte de un probable caso de Hemoglobina S / Talasemia Beta.

2013 ◽  
Vol 15 (3) ◽  
pp. 173
Author(s):  
John RAMÍREZ CUENTAS ◽  
Olga LIZAMA OLAYA ◽  
Josilú MARTÍNEZ LA ROSA ◽  
Mercy JHONG OLIVERA ◽  
Eduardo SALAZAR LINDO
Keyword(s):  
Cell Morphology ◽  
Clinical Presentation ◽  
Clinical Laboratory ◽  
Reticulocyte Count ◽  
Clinical Manifestations ◽  
Electrophoretic Analysis ◽  
Clinical Findings ◽  
Red Cell ◽  
Careful Observation ◽  
Hematological Evaluation

We report the case of a patient with Hemoglobin S / Thalassemia. It is feasible to recognize this infrequent disease by its clinical presentation and the aid of clinical laboratory . On this patient, the diagnosis was established based on the clinical findings, hematological evaluation (with careful observation of the red cell morphology and reticulocyte count) and electrophoretic analysis of hemoglobin. We discusse the physiopathology, clinical manifestations, treatment and alternative of prevention of this disease.

scholarly journals Immunotherapies for Anti-N-M-methyl-D-aspartate Receptor Encephalitis: Multicenter Retrospective Pediatric Cohort Study in China

2021 ◽  
Vol 9 ◽  
Author(s):  
Shiqi Guang ◽  
Jiannan Ma ◽  
Xiaotun Ren ◽  
Shuizhen Zhou ◽  
Jian Yang ◽  
...  
Keyword(s):  
Pediatric Patients ◽  
Clinical Manifestations ◽  
Treatment Strategies ◽  
Oral Prednisolone ◽  
Complete Recovery ◽  
Second Line ◽  
First Line ◽  
Aspartate Receptor ◽  
Nmdar Encephalitis ◽  
Clinical Records

Background: Anti-N-methyl-D-aspartate receptor (NMDAR) encephalitis has been discovered for more than a decade, but the establishment of standardized immunotherapy protocol for pediatric patients still needs more clinical evidence.Methods: A multicenter, retrospective study was conducted on pediatric patients diagnosed with anti-NMDAR encephalitis between November 2011 and December 2018. The clinical records including clinical manifestations, immunotherapy strategies, and outcomes were collected and analyzed.Results: A total of 386 patients were included in our study and the median onset age was 8.00 (IQR 4.83–10.90) years. All patients received first-line immunotherapy and the majority (341, 88.3%) used the standard combination of methylprednisolone pulses (MEP) and intravenous immunoglobulins (IVIG), but 211 patients did not show satisfactory improvement (mRS ≥ 3). Mainly three treatment strategies were applied after first-line immunotherapy: second-line immunotherapy, repetitive first-line immunotherapy, and maintaining oral prednisolone. For patients with mRS ≥ 4 after first-line immunotherapy, the incidence of poor outcome (mRS ≥ 3) in oral prednisolone group was higher than that in other treatment groups (p = 0.039). No difference in complete recovery rate (mRS = 0) was found between patients receiving second-line and repetitive first-line immunotherapy, or patients using long-term and short-term prednisolone. Out of 149 patients who received anti-myelin oligodendrocyte glycoprotein antibody (MOG-Ab) test, 27 (18.12%) were positive. Patients with concomitantly positive MOG-Ab showed milder conditions compared to patients with typical anti-NMDAR encephalitis and were more inclined to relapses. We also identified female, MOG-Ab positive, and not receiving second-line and/or repetitive first-line immunotherapy were risk factors for relapses.Conclusions: For patients with mRS ≥ 4 after first-line immunotherapy and patients with concomitantly positive MOG-Ab, second-line immunotherapy is recommended. When second-line immunotherapy is not applicable, repetitive first-line immunotherapy can be considered as an option. Both second-line and repetitive first-line immunotherapy are beneficial to reduce relapse rate. The duration of sequential oral prednisolone can be shortened after fully evaluating patients' conditions.

Nutritional B12 Deficiency in Infants of Vitamin B12-Deficient Mothers

2011 ◽  
Vol 81 (5) ◽  
pp. 328-334 ◽  
Author(s):  
Oya Halicioglu ◽  
Sezin Asik Akman ◽  
Sumer Sutcuoglu ◽  
Berna Atabay ◽  
Meral Turker ◽  
...  
Keyword(s):  
Megaloblastic Anemia ◽  
Maternal Diet ◽  
Clinical Manifestations ◽  
Serum Vitamin ◽  
Failure To Thrive ◽  
Clinical Findings ◽  
Vitamin B ◽  
Animal Products ◽  
Hematological Evaluation ◽  
Nutritional Vitamin

Aim: Nutritional vitamin B12 deficiency in infants may occur because the maternal diet contains inadequate animal products. Clinical presentations of the infants who had nutritional vitamin B12 deficiency were analyzed in this study. Subjects and Methods: Patients with nutritional vitamin B12 deficiency were enrolled in the study between 2003 and 2010. The diagnosis was based on a nutritional history of mothers and infants, clinical findings, hematological evaluation, and low level of serum vitamin B12. Results: Thirty children aged 1 - 21 months constituted the study group. Poverty was the main cause of inadequate consumption of animal products of the mothers. All infants had predominantly breastfed. The most common symptoms were developmental delay, paleness, apathy, lethargy, anorexia, and failure to thrive. Hematological findings were megaloblastic anemia (83.3 %), thrombocytopenia (30 %), and severe anemia (13.3 %). All of the mothers had low serum B12 levels; eight of them had megaloblastic anemia. Conclusion: The unusual clinical manifestations of vitamin B12 deficiency may also be seen apart from neurological and hematological findings. Nutritional vitamin B12 deficiency due to maternal deficiency might be a serious health problem in infants. Therefore, screening and supplementation of pregnant and lactating women to prevent infantile vitamin B12 deficiency should be considered.

Computer-Aided Diagnosis in Jaundice: Comparison of Knowledge-based and Probabilistic Approaches

1996 ◽  
Vol 35 (01) ◽  
pp. 41-51 ◽  
Author(s):  
F. Molino ◽  
D. Furia ◽  
F. Bar ◽  
S. Battista ◽  
N. Cappello ◽  
...  
Keyword(s):  
Clinical Presentation ◽  
Clinical Information ◽  
Diagnostic Value ◽  
Clinical Findings ◽  
Clinical Documentation ◽  
Data Set ◽  
Knowledge Based ◽  
Number Of Patients ◽  
Support Tools ◽  
Aided Diagnosis

AbstractThe study reported in this paper is aimed at evaluating the effectiveness of a knowledge-based expert system (ICTERUS) in diagnosing jaundiced patients, compared with a statistical system based on probabilistic concepts (TRIAL). The performances of both systems have been evaluated using the same set of data in the same number of patients. Both systems are spin-off products of the European project Euricterus, an EC-COMACBME Project designed to document the occurrence and diagnostic value of clinical findings in the clinical presentation of jaundice in Europe, and have been developed as decision-making tools for the identification of the cause of jaundice based only on clinical information and routine investigations. Two groups of jaundiced patients were studied, including 500 (retrospective sample) and 100 (prospective sample) subjects, respectively. All patients were independently submitted to both decision-support tools. The input of both systems was the data set agreed within the Euricterus Project. The performances of both systems were evaluated with respect to the reference diagnoses provided by experts on the basis of the full clinical documentation. Results indicate that both systems are clinically reliable, although the diagnostic prediction provided by the knowledge-based approach is slightly better.

Long-term outcomes of lumbar microdiscectomy in the pediatric population: a large single-institution case series

2019 ◽  
Vol 24 (5) ◽  
pp. 549-557
Author(s):  
Malia McAvoy ◽  
Heather J. McCrea ◽  
Vamsidhar Chavakula ◽  
Hoon Choi ◽  
Wenya Linda Bi ◽  
...  
Keyword(s):  
Conservative Management ◽  
Functional Outcomes ◽  
Pediatric Patients ◽  
Clinical Presentation ◽  
Case Series ◽  
Csf Leak ◽  
Single Institution ◽  
The Mean

OBJECTIVEFew studies describe long-term functional outcomes of pediatric patients who have undergone lumbar microdiscectomy (LMD) because of the rarity of pediatric disc herniation and the short follow-up periods. The authors analyzed risk factors, clinical presentation, complications, and functional outcomes of a single-institution series of LMD patients over a 19-year period.METHODSA retrospective case series was conducted of pediatric LMD patients at a large pediatric academic hospital from 1998 to 2017. The authors examined premorbid risk factors, clinical presentation, physical examination findings, type and duration of conservative management, indications for surgical intervention, complications, and postoperative outcomes.RESULTSOver the 19-year study period, 199 patients underwent LMD at the authors’ institution. The mean age at presentation was 16.0 years (range 12–18 years), and 55.8% were female. Of these patients, 70.9% participated in competitive sports, and among those who did not play sports, 65.0% had a body mass index greater than 25 kg/m2. Prior to surgery, conservative management had failed in 98.0% of the patients. Only 3 patients (1.5%) presented with cauda equina syndrome requiring emergent microdiscectomy. Complications included 4 cases of postoperative CSF leak (2.0%), 1 case of a noted intraoperative CSF leak, and 3 cases of wound infection (1.5%). At the first postoperative follow-up appointment, minimal or no pain was reported by 93.3% of patients. The mean time to return to sports was 9.8 weeks. During a mean follow-up duration of 8.2 years, 72.9% of patients did not present again after routine postoperative appointments. The total risk of reoperation was a rate of 7.5% (3.5% of patients underwent reoperation for the same level; 4.5% underwent adjacent-level decompression, and one patient [0.5%] ultimately underwent a fusion).CONCLUSIONSMicrodiscectomy is a safe and effective treatment for long-term relief of pain and return to daily activities among pediatric patients with symptomatic lumbar disc disease in whom conservative management has failed.

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