Clinical Presentation Of Children Research Articles

LBSAT311 Rhabdomyolysis: A Rare Presentation Of Hashimoto Thyroiditis In An Adolescent Boy

Abstract Introduction Hashimoto thyroiditis is the most common cause of hypothyroidism and is associated with a wide range of clinical presentations in children and adolescents. Hypothyroidism-induced rhabdomyolysis without precipitating factors is extremely rare, particularly in pediatric patients. We describe a previously healthy adolescent boy who came to our institution with vague symptoms and was found to have rhabdomyolysis secondary to hypothyroidism due to Hashimoto thyroiditis. Clinical Case A 16 year old boy presented to the emergency department at Riley Hospital for Children due to a two week history of bilateral eye and lip swelling. Additional symptoms included fatigue, sleepiness, slowing of speech, decreased attention span and weight gain. He was not on any medications and had no history of allergies. There was no family history of endocrine or neuromuscular disorders. Physical exam revealed a height of 177 cm (75th tile), weight of 118.4 kg (99th %tile) and BMI at the 99th %tile. Exam was significant for slow generalized movements, facial edema, and delayed deep tendon reflexes in all extremities. The thyroid gland was normal. Laboratory evaluation revealed Creatinine-1.46 mg/dL (0.3-1.2), ALT-88 Units/L (7-52), AST-254 Units/L (13-39), TSH-32.2 mcU/mL (0.4-4.2), fT4 <0.2 ng/dL (0.6-1.5) and CK 20,500 Units/L (30-223). Thyroid peroxidase antibody was elevated at 686.1 IU/mL. A renal and bladder ultrasound showed trace intra-abdominal ascites and decreased echogenicity of the bilateral psoas muscles favoring edema and consistent with rhabdomyolysis. He received IV hydration and was started on levothyroxine 25 mcg daily that was increased over a 10 month period to achieve euthyroidism. Genetic testing for rhabdomyolysis revealed two variants of unknown significance. Acyl carnitine and carnitine profiles were normal ruling out a metabolic myopathy. His symptoms improved significantly after treatment with levothyroxine although his CK levels plateaued around 1,000 Units/L. Liver and kidney function normalized during follow up. Conclusion Rhabdomyolysis is a rare but serious complication of hypothyroidism, the pathogenesis of which is unclear. Proposed hypotheses include impaired mitochondrial oxidative metabolism, decreased muscle carnitine and switching of muscle fibers from fast-twitching type II to slow-twitching type I due to thyroxine deficiency ultimately leading to myolysis and release of intracellular muscle contents into the circulation. It is important for clinicians to have a high index of suspicion for hypothyroidism in children who present with muscle weakness and high creatinine kinase levels. The etiology of the disproportionately mild elevation of TSH in the setting of an unmeasurable free T4 and severe clinical hypothyroidism in our patient remains a mystery. Presentation: Saturday, June 11, 2022 1:00 p.m. - 3:00 p.m.

A systematic review and meta-analysis of the epidemiological characteristics of COVID-19 in children

BackgroundSeveral individual studies from specific countries have reported rising numbers of pediatric COVID-19 cases with inconsistent reports on the clinical symptoms including respiratory and gastrointestinal symptoms as well as diverse reports on the mean age and household exposure in children. The epidemiological characteristics of COVID-19 in children are not fully understood, hence, comprehensive meta-analyses are needed to provide a better understanding of these characteristics.MethodsThis review was conducted in Medline, Scopus, Cochrane library, Embase, Web of Science, and published reports on COVID-19 in children. Data were extracted by two independent researchers and a third researcher resolved disputes. STATA software and the random-effect model were used in the synthesis of our data. For each model, the heterogeneity between studies was estimated using the Q Cochrane test. Heterogeneity and publication bias were calculated using the I2 statistic and Egger’s/Begg’s tests.ResultsThe qualitative systematic review was performed on 32 articles. Furthermore, the meta-analysis estimated an overall rate of involvement at 12% (95% CI: 9–15%) among children, with an I2 of 98.36%. The proportion of household exposure was calculated to be 50.99% (95% CI: 20.80%–80.80%) and the proportion of admitted cases was calculated to be 45% (95% CI: 24%–67%). Additionally, the prevalence of cough, fatigue, fever and dyspnea was calculated to be 25% (95% CI: 0.16–0.36), 9% (95% CI: 0.03–0.18), 33% (95% CI: 0.21–0.47) and 9% (95% CI: 0.04–0.15), respectively. It is estimated that 4% (95% CI: 1–8%) of cases required intensive care unit admission.ConclusionsThe pediatric clinical picture of COVID-19 is not simply a classic respiratory infection, but unusual presentations have been reported. Given the high incidence of household transmission and atypical clinical presentation in children, we strongly recommend their inclusion in research and population-based preventive measures like vaccination as well as clinical trials to ensure efficacy, safety, and tolerability in this age group.

Clinical presentation of children with Deficiency of Adenosine deaminase 2: A case series

Deficiency of Adenosine deaminase 2 (DADA2) is a monogenic inflammatory disease, caused by mutations in ADA2 gene, which encodes an extracellular enzyme acting as a monocyte differentiation factor. DADA2 is first described with the clinical picture resembling polyarteritis nodosa, including livedo racemose, recurrent fever, musculoskeletal complaints. Besides, some patients have cytopenia, lymphoproliferation and mild to moderate immunodeficiency. The most crucial complication of DADA2 is neurological involvement, especially arterial stroke, which necessitates continuous treatment with anti-tumor necrosis factor α (anti-TNFα) treatment for preventing further stroke attacks.Herein, we report 5 DADA2 patients from 5 unrelated families, all had G47R mutation in at least one allele. All patients had livedo racemose, and 4 patients suffered from recurrent fever. Besides, musculoskeletal complaints and gastrointestinal symptoms were present in 4 and 3 patients, respectively. One patient had chronic arthritis and only one patient had a history of recurrent stroke without any sequela. Hematological and immunological involvement occurred in 3 and 4 patients, respectively, whereas only one had significant panhypogammaglobulinemia, requiring replacement therapy. We started etanercept treatment to all patients, which resulted the complete resolution of systemic inflammatory attacks and skin lesions and provided neurologically symptom free during their follow-up. With this report, we emphasize the importance of early referral of the patients with suspected livedo racemose to avoid the delay of DADA2 diagnosis for favorable outcome.

#66 Clinical characteristics and outcomes of children with single or co-detected rhinovirus-associated acute respiratory infection in Middle Tennessee

Abstract Background Rhinovirus (RV) is one of the most common viral etiologies of acute respiratory infection (ARI)—the leading infectious cause of mortality in young children. Multiple respiratory viruses may be detected with RV in children with ARI, but the clinical significance of viral co-detection is unclear. We aimed to compare the clinical characteristics and outcomes of children with ARI associated with RV-only detection or RV co-detection. Method We conducted a prospective viral surveillance study (11/2015–7/2016) in Nashville, Tennessee. Children <18 years old who presented to the emergency department (ED) or were hospitalized with fever and/or respiratory symptoms of <14 days duration were eligible if they resided in one of nine selected counties in Middle Tennessee. Demographics and clinical characteristics were collected by parental interviews and medical chart abstractions. Nasal and/or throat specimens were collected and tested for RV, RSV, metapneumovirus, adenovirus, parainfluenza 1–4, and influenza A–C using real-time reverse transcriptase polymerase chain reaction assays. We compared clinical characteristics and outcomes of children with RV-only detection or RV co-detection using Pearson's χ2 test for categorical variables and linear regression with robust standard errors for continuous variables. Results Of 1,250 children who were enrolled, 904 (72.3%) were positive for at least one virus. RV was detected in 406 virus-positive children (44.9%), of whom 117 (28.8%) had RV co-detection. The most common RV co-detection pair was RV/RSV (n=36). The mean age of children with RV co-detection was lower than those with RV-only detection (2.6 ± 2.7 years vs. 4.3 ± 4.4 years; p<0.001). The signs and symptoms of children with RV-only detection and those with RV co-detection are compared in Table 1. A total of 283 children with RV were discharged from the ED (69.7%), of whom 89 (31.4%) had RV co-detection. Children with RV co-detection who were discharged from the ED were less likely to have a diagnosis of asthma/reactive airway disease (RAD) than those with RV-only detection (10.1% vs. 21.6%; p=0.019) but more likely to be diagnosed with bronchiolitis (18.0% vs. 1.5%; p<0.001). Of the 123 hospitalized children with RV, 28 (22.8%) had RV co-detection. Hospitalized children with RV co-detection were less likely to have an admission diagnosis of asthma/RAD than those with RV-only detection (7.1% vs. 43.2%; p<0.001) but more likely to be diagnosed with bronchiolitis (32.1% vs. 14.7%; p=0.038) and pneumonia (32.1% vs. 8.4%; p<0.001). We did not identify differences in hospitalization, intensive care unit admission, supplemental oxygen use, or length of stay between children with RV-only detection and RV co-detection. Conclusion We did not find evidence that RV co-detection was associated with worse outcomes in children with ARI. However, the clinical presentation of children with RV co-detection differs from that of children with RV-only detection. These distinctions warrant consideration in the diagnostic evaluation and management of RV-positive children. Further studies are needed to describe the distinct clinical presentations of RV/non-RV pairs and RV species.

Vertigo in children - A review

Vertigo is a morbid symptom in the pediatric age group. It is not an uncommon clinical presentation in children. The etiopathology of vertigo in children is different from that of the adult age group. It is often not easy to evaluate this symptom in pediatric age group. In most cases, the children do not express their symptoms in detail and so clinicians cannot obtain adequate history and determine their exact etiology for vertigo. The benign paroxysmal vertigo is a common etiology in younger children, whereas the vestibular migraine is responsible for vertigo in majority of older children. Hence, pediatricians, otorhinolaryngologists, physicians, and neurologists often face difficulty in establishing the appropriate diagnosis of vertigo in children. The diagnosis of vertigo in children includes a detailed history, clinical examination, complete neurological examination, and audiological assessment. The treatment of vertigo in children includes the treatment of appropriate etiology. The prognosis of vestibular function recovery in children is often variable and unpredictable. Imaging such as computed tomography scans or magnetic resonance imaging is done in selected cases. The objective of this review article is to familiarize the readers with these complex disorders of children and with the current protocols in their management.

Variable Presentation of Foreign Body Aspiration in Children: Diagnostic Dilemma

Aim: To determine the frequency of common clinical presentations in children with foreign body aspiration.
 Methodology: This cross sectional study was done during the period of March, 2017 to Feb, 2018 A total of 84 children with history of foreign body aspiration were included. The data was entered in the proforma which includes history and the common presentation. The study was approved by ethical review board of PUMHSW. Written informed consent was taken from parents/guardian of all participants.
 Results: The average age of the children was 3.2±1.69 years. There were 52(61.9%) male and 32(38.1%) were female. Frequency of common clinical presentation was repeated attacks of cough 64.3%, respiratory distress 64.3% followed by sudden onset of choking 54.8%, non-responsive to treatment 34.5%, cyanosis 11.9% and with decrease air way breath sound in right and left as well as bilateral lung was 44%, 23.8% and 16.7& respectively. 46.4% had right, 22.6% left and 25% bilateral hyperinflation similarly 17.95 right, 15.5% left lung were collapse.
 Conclusion: Beetle nut as foreign body inhalation is more common in children. Repeated attacks of cough, respiratory distress, and chocking are the commonest symptoms. FBA should be kept in differential diagnosis of persistent cough in children.

A study of clinical profile and outcome of COVID-19 in children

Background: COVID-19 has become a major public health crisis around the world. This study aimed at identifying the different clinical presentations of children who were tested positive for SARS-COV-2.Methods: Descriptive and prospective study of the children who were seen over the fever clinic and were admitted to the Sapthagiri institute of medical science and research centre over a period of 4 months from November 2021 to February 2022.Results: Among the 251 children admitted to the hospital majority of them were males 52.5% and the age group of 1-5 years were highest affected 46.2%. The most common symptoms noted were fever 60.5%, followed by pain abdomen 45.8%, vomiting 43.8%, running nose 39%, cough 38%, diarrhoea 30.6%, decreased appetite 26.7% and the least common symptom was skin rash 0.3%. Children with comorbidites had higher risk of ICU admission. No deaths were noted during the study period.Conclusions: The study concludes that males and children of age group 1-5 years were more affected. Children with co morbidities were more severely affected. children who were positive presented with other system involvement like gastrointestinal system. Household contact were the make cause of infection among children.

Neurologic manifestations in children with COVID-19 from a tertiary center in Turkey and literature review.

BackgroundSince December 2019, coronavirus disease 2019 (COVID-19) has become a global pandemic caused by highly transmissible severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2). Although respiratory disease and multisystem inflammatory syndrome in children (MIS-C) are main clinical presentations in children, numerous neurological manifestations are being described increasingly. We aimed to investigate new onset neurological symptoms associated with SARS-CoV-2 in pediatric patients in order to establish a possible relationship as well as to understand the underlying pathophysiological mechanisms between SARS-CoV-2 infection and neurological findings.MethodsWe analyzed retrospectively children who had neurologic manifestations temporally associated with SARS-CoV-2 infection at Hacettepe University İhsan Doğramaci Children's Hospital. We performed a literature search between March 20, 2020 and March 30, 2021. Articles that report children with COVID-19 related neurological manifestations were included.ResultsWe have observed 15 consecutive cases with new onset neurological manifestations along with confirmed SARS-CoV-2 infection. Age at hospitalization ranged from three months to 17 years. Ten patients had central nervous system involvement, and most common manifestation was encephalopathy (5/10), which is also one of the most common manifestations of the patients mentioned in the relevant 39 articles we reviewed.ConclusionChildren with COVID-19 can present with neurologic findings such as encephalopathy, seizures, cerebrovascular events as well as abnormal eye movements. Clinical suspicion and awareness are required to show the association between neurologic manifestations and COVID-19.

Extensive spontaneous spinal epidural hematoma in infancy. Case report

Introduction: Spontaneous spinal epidural hematomas are a rare condition of spinal cord compression. We report a case of spontaneous spinal epidural hematoma in a child with neurological deficit. Case presentation: A 5-year-old male child with walking difficulty for 15 days. Clinical examination revealed spastic paraparesis and pyramidal signs. Magnetic resonance imaging of the cervical and thoracic spine showed extensive epidural hematoma (C7–T4) with significant medullary edema. Laminotomy was performed for decompression followed by drainage of the hematoma. Spontaneous spinal epidural hematoma usually occurs in the absence of identifiable etiology. The clinical presentation in children is nonspecific. The treatment is based on surgical decompression mainly by laminotomy performed within 48 hours of hematoma formation. Conclusion: In the case presented, the child remained paraparetic despite surgical decompression. The timing (>48 hours) of the surgical procedure probably influenced the poor prognosis.

LB10. Impact of SARS-CoV-2 Delta Variant on the Spectrum of Pediatric COVID-19 Disease in Arkansas

BackgroundPediatric SARS-CoV-2 infection is generally thought to be asymptomatic or result in mild COVID-19 disease, with a paucity of severe outcomes. However, SARS-CoV-2 variants, notably B.1.617.2 (WHO Delta), have changed the clinical landscape of COVID-19 in the United States. Delta became the dominant variant in Arkansas (AR) the 1st week of July 2021. Schools contributed to pediatric infections during the January 2021 surge in COVID-19 infections even with physical mitigation measures (PMM) that were removed in March 2021. We present preliminary data suggesting a shift in the clinical presentation of children with Delta variant infection. MethodsPediatric (ages ≤ 18 years) case records for the 3 months representing key inflection points of the COVID-19 Pandemic in AR were reviewed. Outcomes (hospitalizations, ICU admission, mechanical ventilation, death) were recorded by the Arkansas Department of Health (ADH) in a statewide database. Fisher’s Exact Test was used with p-values < 0.05 indicating statistical significance.ResultsDuring July 2020, 3,268 pediatric cases were reported to ADH with 55 hospitalizations, 6 ICU admissions, 2 mechanical ventilations, and no deaths. A second peak in January 2021 included 11,735 pediatric cases, a 259.1% increase. Increases were also seen in hospitalizations (n=74), ICU admissions (n= 11), and mechanical ventilations (n=2). No deaths reported. The beginning of an exponential growth in cases during July 2021, before the opening of schools, included 8,031 pediatric cases. Despite 31.6% fewer cases than the previous peak, hospitalizations increased 41.9% (n=105) (p < 0.0001) and included increases in ICU and ventilator use of 68.6% (n=18) (p 0.0016) and 300% (n=8) (p 0.0034), respectively. One pediatric death was reported. (Tbl 1)ConclusionIn the absence of PMM and despite the summer closure of schools, pediatric COVID-19 cases and severe outcomes increased significantly. Initial analysis of the AR July 2021 Delta variant surge indicates a statistically significant increase in pediatric COVID-19 disease and severity as indicated by a proportional increase in hospitalizations, ICU, and ventilator use. Further studies are warranted to better define Delta related childhood disease. Our findings also have implications for school PMM efforts.Disclosures All Authors: No reported disclosures

204. Mucosal Cytokine Profiles in Children with COVID-19

BackgroundThe mechanisms associated with COVID-19 in children are not well understood. We sought to define the differences in nasopharyngeal (NP) cytokine profiles according to clinical presentation in children with COVID-19. MethodsSingle-center, prospective study in 137 children and adolescents < 21 years of age hospitalized with COVID-19, and 35 age, sex and race matched pre-pandemic (2016-2019) healthy controls. Children with COVID-19 were categorized according to their clinical presentation in: COVID-19-symptomatic; COVID-19-screening, and multisystem inflammatory syndrome (MIS-C). NP swabs were obtained within 24 hours of admission to measure SARS-CoV-2 loads by rt-PCR, and a 92-cytokine panel. Unsupervised and supervised analysis adjusted for multiple comparisons were performed.ResultsFrom 3/2020 to 1/2021, we enrolled 76 COVID-19-symptomatic children (3.5 [0.2-15.75] years); 45 COVID-19-screening (11.1 [4.2-16.1] years), and 16 MIS-C (11.2 [5.9-14.6] years). Median NP SARS-CoV-2 loads were higher in COVID-19-symptomatic versus screening and MIS-C (6.8 vs 3.5 vs 2.82 log10 copies/mL; p< 0.001). Statistical group comparisons identified 15 cytokines that consistently differed between groups and were clustered in three functional categories: (1) antiviral/regulatory, (2) pro-inflammatory/chemotactic, and (3) a combination of (1) and (2); (Fig 1). All 15 cytokines were higher in COVID-19-symptomatic versus controls (p< 0.05). Similarly, and except for TNF, CCL3, CCL4 and CCL23, which were comparable in COVID-19-symptomatic and screening patients, the remaining cytokines were higher in symptomatic children (p< 0.05). PDL-1 (p=0.01) and CCL3 (p=0.03) were the only cytokines significantly decreased in children with MIS-C versus symptomatic COVID-19 children. The 15 cytokines identified by multiple comparisons were correlated using Person’s in R software. Red reflects a positive correlation and blue a negative correlation with the intensity of the color indicating the strength of the association.ConclusionChildren with symptomatic COVID-19 demonstrated higher viral loads and greater mucosal cytokines concentrations than those identified via screening, whereas in MIS-C concentrations of regulatory cytokines were decreased. Simultaneous evaluation of viral loads and mucosal immune responses using non-invasive sampling could aid with the stratification of children and adolescents with COVID-19 in the clinical setting. DisclosuresOctavio Ramilo, MD, Adagio (Consultant)Bill & Melinda Gates Foundation (Grant/Research Support)Janssen (Grant/Research Support)Lilly (Consultant)Merck (Consultant, Grant/Research Support)NIH (Grant/Research Support)Pfizer (Consultant)SANOFI (Board Member) Asuncion Mejias, MD, PhD, MsCS, Janssen (Grant/Research Support, Advisor or Review Panel member)Merck (Grant/Research Support, Advisor or Review Panel member)Roche (Advisor or Review Panel member)Sanofi (Advisor or Review Panel member).

Incidence and Age- and Sex-Specific Differences in the Clinical Presentation of Children and Adolescents With Avoidant Restrictive Food Intake Disorder

To our knowledge, this is the first pediatric surveillance study of children and adolescents with avoidant restrictive food intake disorder (ARFID). To examine the incidence and age- and sex-specific differences in the clinical presentation of ARFID in children and adolescents in Canada. In this cross-sectional study, patients with ARFID were identified through the Canadian Paediatric Surveillance Program by surveying 2700 Canadian pediatricians monthly from January 1, 2016, to December 31, 2017. The incidence of ARFID in Canadian children (5-18 years of age) and age- and sex-specific clinical characteristics at presentation. In total, 207 children and adolescents (mean [SD] age, 13.1 [3.2] years; 127 [61.4%] female) were included in this study. The incidence of ARFID in children 5 to 18 years of age was 2.02 (95% CI, 1.76-2.31) per 100 000 patients. Older children and adolescents were more likely to endorse eating too little (5-9 years of age: 76.7%; 95% CI, 58%-88.6; 10-14 years of age: 90.9%; 95% CI, 84.6%-94.8%; 15-18 years of age: 95.6%; 95% CI, 83.6%-98.9%; P = .02), have a loss of appetite (5-9 years of age: 53.3%; 95% CI, 35.4%-70.4%; 10-14 years of age: 74.2%; 95% CI, 66.0%-81.0%; 15-18 years of age: 80.0%; 95% CI, 65.5%-89.4%; P = .03), be medically compromised (mean body mass index z score: 10-14 vs 5-9 years of age: -1.31; 95% CI, -2.0 to -0.6; 15-18 vs 5-9 years of age: -1.35; 95% CI, -2.2 to -0.5; 15-18 vs 10-14 years of age: -0.04; 95% CI, -0.6 to 0.5; P < .001; mean percentage of treatment goal weight: 10-14 vs 5-9 years of age: -8.6; 95% CI, -14.3 to -2.9; 15-18 vs 5-9 years of age: -9.8; 95% CI, -16.3 to -3.3; 15-18 vs 10-14 years of age: -1.2; 95% CI, -5.8 to 3.4; P < .001; mean heart rate (beats per min): 10-14 vs 5-9 years of age: -10; 95% CI, -21.9 to 1.9; 15-18 vs 5-9 years of age: -19.7; 95% CI, -33.1 to -6.2; 15-18 vs 10-14 years of age: -9.7; 95% CI, -18.7 to -0.7; P = .002), have higher rates of anxiety (5-9 years of age: 26.7%; 95% CI, 13.7-45.4; 10-14 years of age: 52.3%; 95% CI, 43.7%-60.7%; 15-18 years of age: 53.3%; 95% CI, 38.6%-67.5%; P = .03) and depression (5-9 years of age: 0%; 10-14 years of age: 6.8%; 95% CI, 3.6%-12.7%; 15-18 years of age: 26.7%; 95% CI, 15.7%-41.6%; P < .001), and be more likely to be hospitalized (5-9 years of age: 13.3%; 95% CI, 5.0%-31.1%; 10-14 years of age: 41.7%; 95% CI, 33.5%-50.3%; 15-18 years of age: 55.6%; 95% CI, 40.7%-69.5%; P = .001). Younger children were more likely to endorse lack of interest in food (5-9 years of age: 56.7%; 95% CI, 38.4%-73.2%; 10-14 years of age: 75.0%; 95% CI, 66.8%-81.7%; 15-18 years of age: 57.8%; 95% CI, 42.8%-71.4%; P = .03), avoidance of certain foods (5-9 years of age: 90.0%; 95% CI, 72.6%-96.8%; 10-14 years of age: 69.7%; 95% CI, 61.3%-77.0%; 15-18 years of age: 62.2%; 95% CI, 47.2%-75.3%; P = .03), and refusal based on sensory characteristics (5-9 years of age: 66.7%; 95% CI, 47.9%-81.3%; 10-14 years of age: 38.6%; 95% CI, 30.7%-47.3%; 15-18 years of age: 22.2%; 95% CI, 12.3%-36.9%; P < .001). Eating but not enough was more common in girls (75.0%; 95% CI, 64.1%-83.4%) vs boys (68.5%; 95% CI, 59.8%-76.1; P = .04), and boys had a higher rate of refusal based on sensory characteristics (51.2%; 95% CI, 40.2%-62.2%) compared with girls (31.5%; 95% CI, 23.9%-40.2%; P = .007). This study suggests that ARFID is a relatively common eating disorder and is associated with important age- and sex- specific clinical characteristics that may help in early recognition and timely treatment of the presenting symptoms.

Cross-sectional analysis: clinical presentation of children with persistently low ALP levels.

Low activity of serum alkaline phosphatase (ALP) is a hallmark of hypophosphatasia (HPP), but low readings of ALP are not always recognized in clinical routine. Understanding the clinical presentations associated with low ALP may contribute to a timelier diagnosis of HPP. Data from paediatric patients with low ALP, excluding patients in intensive care and with oncological/haematological disorders, were analysed. Most recent ALP values, previous diagnoses, medication and relevant symptoms were extracted from patient records at nine specialised centres and analysed descriptively. A relationship between body height and ALP values was scrutinised by linear regression. Of 370 children, 15 (4.1%) had a diagnosis of HPP. In the subgroup without a diagnosis of HPP, 241 (67.9%) out of 355 patients had one or more medical conditions known to be associated with low serum ALP. Of those, hypothyroidism, malnutrition and steroid administration were most frequent. Characteristic symptoms, particularly, short stature, muscle weakness and delay of motor development were more frequent and ALP values were lower in patients with documented HPP diagnosis compared to patients without diagnosis of HPP (Ø z-scores:-2.52) (interquartile range [IQR]=0.20) vs.-1.96 (IQR=0.87). A weak positive linear relationship between z-scores of ALP and body height was identified (p<0.001). This analysis of paediatric patient records elucidates a wide range of disorders associated with low ALP activity. In case of additional specific symptoms, HPP should always be considered as a differential diagnosis.

English

BACKGROUND Methylenetetrahydrofolate reductase (MTHFR) C677T and A1298C variants are considered as potential genetic risk factors for vaso-occlusive complications in sickle cell disorder (SCD). The purpose of the study was to determine the interaction of the combined haplotypes on the clinical presentations in children with sickle cell disorder. METHODS A cross-sectional study was conducted on 249 children, confirmed for sickle cell disorder. Clinical details and frequencies of clinical episodes in the past one year were noted and a severity index number was allotted to each child and evaluated for their relationship with the combined haplotypes of C677T and A1298C single nucleotide polymorphisms genotyped by real-time PCR. RESULTS The frequency for 677T / 1298A haplotype was 46.4 % and that of 677C / 1298C was 12.4 %. The three variant combined haplotypes had higher plasma homocysteine values than the wild 677C / 1298A haplotypes (P &lt; 0.001). Clinical events like vasoocclusive crisis (VOC), homocysteinemia, hospitalization frequency and SI were found significantly related among the children in sickle cell trait (SCT) group (P &lt; 0.001) but not so in SCD group. Chances for anemia was 1.93 times more in presence of dual variant alleles (95 %CI: 0.95 to 3.92, P = 0.07) in SCT. The 677T / 1298C haplotype accounted for higher SI was 7.85 times more than the wild haplotypic children even in SCT children and 1.67 times in SCD children. CONCLUSIONS Presence of the variant haplotypes had significant implication on crisis events in children with sickle cell trait and make them more prone for the clinical severity. A preliminary allelic screening might be helpful in them. KEY WORDS Dual Variant Alleles, Heterozygous, Homozygous, MTHFR, Variant Haplotypes

Help-seeking duration in adolescents with suicidal behavior and non-suicidal self-injury

Prompt access to appropriate professional care for adolescents with self-harm thoughts and respective behaviors (suicidal behavior and non-suicidal self-injury [NSSI]) is crucial as both are associated with an increased risk of suicide in later life. The present study aimed to describe the duration from initial onset of thoughts and incidents of self-harm until first clinical presentation in children and adolescents and to identify factors affecting help-seeking duration.Onset of self-harm thoughts and behaviors, time of first clinical presentation, and psychiatric and demographic variables were obtained from n = 672 adolescents (11–19 years) from the Germany-based AtR!Sk (Ambulanz für Risikoverhalten & Selbstschädigung) cohort-study at an outpatient clinic for risk-taking and self-harm behaviors. In 22% of overall cases, the first self-harm thoughts and behaviors occurred after contact to professional care was already established. Focusing on actual help-seeking delay only, it took between M = 0.99 years (after first suicide attempt) and M = 1.98 years (after first thoughts of NSSI) until participants sought professional help. Overall, help-seeking duration and help-seeking delay were longer for participants with more severe psychopathology (i.e., BPD, depressive symptoms, general symptom severity). The findings revealed a substantial delay of receiving appropriate professional care in adolescents with self-harm thoughts and behavior. The correlation between treatment latency and higher psychopathology may emphasize the need of prompt treatment. A better understanding of barriers and facilitators to professional help will contribute to enhance measures of tailored support for young patients in their help-seeking process.

POS-221 Clinico-Pathological Profile of Children with Lupus Nephritis in A Tertiary Care Hospital

This study was done to observe the clinicopathological presentation of children presented with lupus nephritis (LN). This cross-sectional study was done in children aged 1-18 years with LN, admitted to the Pediatric Nephrology Department of Bangabandhu Sheikh Mujib Medical University (BSMMU), Dhaka, Bangladesh from January 2017 to April 2019. LN was diagnosed according to Systemic Lupus International Collaborating Clinics (SLICC) criteria. All patients underwent renal biopsy and tissues were examined under light microscopy and immunofluorescence by a pathologist in the Department of Pathology. Thirty-five children with LN with a mean age of 11.6 ± 3.9 years were evaluated and 26 (74.28%) were female. Twenty-seven (77.14%) patients presented with acute cutaneous lupus followed by oral ulcer (51.4%), arthritis (48.6%), chronic cutaneous lupus (28.57%), and psychosis (11.4%). Significant proteinuria was present in 20(57.1%) and 9 (25.7%) patients had hemolytic anemia. Class IV nephritis was the most common histopathology (51.43%) followed by class II (25.7%). Acute cutaneous lupus was the most common clinical presentation in children with lupus nephritis though psychosis was not uncommon as the initial presentation. Class IV was the most common stage on histology.

Analysis of CFTR Gene Variants and clinical presentations in Children with Diffuse Bronchiectasis and Unknown Etiology

Background: Diffuse bronchiectasis is an irreversible abnormal dilation of proximal subsegmental bronchi. The aim was to investigate and compare CFTR gene mutations and clinical presentations in children with idiopathic bronchiectasis. Materials and Methods: In a cross-sectional study, all children with idiopathic bronchiectasis who were hospitalized from 2019 to 2020 in Tabriz Children’s Hospital, Iran, were reviewed. Bronchiectasis confirmation was based on signs, symptoms, and HRCT findings. Data was collected through medical records, medical history, clinical examination, and para-clinical examination. CFTR variants were examined by liquid chromatography, direct sequencing, and multiple probe ligations. Then children were divided into two groups based on variants identified in the CFTR gene and compared in terms of demographic, clinical, and para-clinical findings. Descriptive statistics, Chi-square Tests, and independent samples t-test was used to analyze the data using SPSS software version 22.0. Results: Out of 21 patients, 0 (47.6%) children were males with a mean age of 9.75 years. Out of 21 children with diffuse bronchiectasis, five clinically significant CFTR-related gene variants were identified (group 1). Other patients either had only single polymorphism or no variants related with CFTR (group 2). Age, FEV1 and sweat test were lower in group 1 than in group 2. Conclusion We observed the CFTR variants in heterozygote form in children with diffuse bronchiectasis with a normal or borderline sweat test. Therefore, it is necessary to determine whether DB is a part of CFTR-Related Diseases failing to meet the diagnostic criteria of Cystic fibrosis or a disease independent of Cystic fibrosis.

Spectrum of febrile thrombocytopenia among children in a tropical country-a hospital based observational study in South India

Background: Febrile thrombocytopenia is a common reason for pediatric admission. Though infections are the major cause, noninfectious causes are not uncommon. This study was done to estimate the prevalence of thrombocytopenia as a presentation in pediatric fever cases, to analyze the various etiologies, presentations and relationship between platelet count and the severity of disease and prognosis.Methods: Retrospective observational study done by collecting data from hospital records of children admitted in Velammal Medical college hospital from January 2016 to December 2017. Children in the age group of 6 months to 15 years with fever and thrombocytopenia at admission were included in the study. Children on treatment with anti-platelet drugs, other chronic diseases and infants less than 6 months were excluded.Results: Out of 2523 fever cases admitted, 372 children fulfilled this criterion. 70% had positive dengue serology, other infectious causes were other viral hemorrhagic fevers, complicated enteric fever, scrub typhus and sepsis. The predominant non-infectious causes were hematological malignancies, Idiopathic thrombocytopenic purpura and Hemolytic uremia syndrome.Conclusions: Febrile thrombocytopenia is a common clinical presentation in children in dengue endemic areas. Most viral fevers have leukopenia but presence of thrombocytopenia with warning signs like pain abdomen, vomiting or oliguria should prompt suspicion of dengue. Infections like enteric fever, scrub typhus or chikungunya may also mimic similar findings. Rarely diseases like leukemia, Idiopathic thrombocytopenic purpura, Hemolytic uremic syndrome or Sepsis may also present as febrile thrombocytopenia. The need for antibiotics or blood products is very minimal.

COVID-19 Pediatric Patients: Gastrointestinal Symptoms, Presentations, and Disparities by Race/Ethnicity in a Large, Multicenter US Study

COVID-19 Pediatric Patients: Gastrointestinal Symptoms, Presentations, and Disparities by Race/Ethnicity in a Large, Multicenter US Study

Evaluation of Patients with Suspicion of COVID-19 in Pediatric Emergency Department.

Objectives:Coronavirus disease 2019 (COVID-19) have different clinical presentations in children. Most symptomatic children with suspicion of COVID-19 have fever and respiratory symptoms. In this retrospective study, we aimed to describe demographic features, clinical characteristics, and outcomes of confirmed and probable COVID-19 patients admitted to our pediatric emergency department (ED).Methods:We identified 135 children (aged 1 month-18 years) with suspicion of the COVID-19 who were admitted to our ED between March 11 and May 12, 2020. The urgency of patients was evaluated according to their Pediatric Assessment Triangle (PAT) and Emergency Severity Index (ESI) scores. Patients were divided into two groups as confirmed cases (Group 1) and probable cases (Group 2). Clinical, laboratory, radiologic features, and the disease severity of patients were analyzed.Results:According to PAT evaluation, 82 patients (65.6%) were non-urgent. The most frequent ESI triage category level was 3 (n=102, 76.1%). Forty-one (30.4%) patients were identified as laboratory-confirmed cases. Fifty-five (40.7%) patients were between 28 days and 4 years of age. Fever with cough was the most frequent symptoms at the onset of illness in COVID-19 positive patients (n=16, 39%). Sixty-four (47.4%) patients had mild disease and 40 (29.6%) patients had comorbidities. In Group 1, neutropenia was significantly higher than Group 2 (p=0.024). Mean procalcitonin and erythrocyte sedimentation rate levels of Group 2 were significantly higher than Group 1 (p=0.012 and p=0.028, respectively). Twenty-eight of 51 patients had chest computed tomography findings which were compatible with COVID-19. Fifty-one (37.8%) patients were discharged from ED, 81 (60%) were admitted to the ward, and 3 (2.2%) were admitted to the pediatric intensive care unit.Conclusion:During our study, we confirmed the diagnosis of 45 of 135 probable cases with the SARS-CoV-2 polymerase chain reaction test. Among confirmed COVID-19 cases, most of our patients had mild or moderate disease. The clinic of only confirmed three patients was classified as severe disease, and we had no critically ill patient.