Presenting Symptom In Children Research Articles

7534 Characterizing The Presentation Of Non-Classical Congenital Adrenal Hyperplasia

Abstract Disclosure: S. Patel: None. M. Skamagas: None. A.C. Levine: None. M. Yau: None. Introduction: 21-hydroxylase deficiency, due to CYP21A2 gene mutations, is the most common steroidogenic enzymatic defect causing congenital adrenal hyperplasia (CAH). Disease severity is categorized into the classical and milder, non-classical (NCAH) form. Many patients go undiagnosed due to variable presentation and delayed onset. We aim to investigate the specific presenting concerns, age of onset, and genotypes associated with NCAH. Methods: A retrospective chart review of 285 patients with CAH seen over the past 2 years at our academic pediatric and adult endocrine clinics was performed. Records were reviewed for presenting concerns and age of symptom onset. CYP21A2 gene analysis was performed commercially via multiplex ligation-dependent probe amplification or next generation sequencing. Results: Of the 165 patients classified with NCAH, genotypes were available for 124 patients. Of the patients with a V281L allele, 43 were homozygous and 49 were heterozygous. 7 patients had the P30L allele and 7 had other allele combinations. The overall most common presenting concerns were early pubarche (29%), hirsutism (28%), and irregular menses (26%). In V281L homozygotes, family history most commonly led to diagnosis (30%). In patients with V281L heterozygosity or the P30L allele, the predominant concern was early pubarche (37% and 43% respectively). 15% of patients were screened prenatally or only due to family history and were asymptomatic at diagnosis. Patients’ age at diagnosis ranged from 0-40 years, with the mean age at diagnosis for the total group being 13.3 ± 8.9 years. Mean age of onset in symptomatic V281L homozygotes (15.4 ± 7.9 years) trended toward an older age compared to symptomatic V281L heterozygotes (15.1 ± 10.5 years) (P value = 0.90). Those who were heterozygous for V281L/P30L or undetermined whether homozygous for V281L or heterozygous with a deletion were excluded from age of onset comparisons. Discussion: The mean age of symptom onset was in adolescence and did not differ significantly between V281L homozygotes and heterozygotes. Early pubarche is a frequent presenting symptom in children with NCAH, and our data support this finding. P30L has been associated with a more severe phenotype than V281L, and in our cohort, the only patient presenting in adrenal crisis had a genotype with a P30L mutation. As NCAH is one of the most common autosomal recessive disorders in humans and there is an allelic predominance of V281L in NCAH patients, it is not surprising that a large percentage of V281L homozygotes were diagnosed due to family history prior to developing symptoms. Such patients need to be followed clinically and our data describing symptom onset could be useful in counseling these families and those with prenatal diagnoses. Presentation: 6/1/2024

Yolk sac tumor of the liver: Presentation, diagnosis, and treatment review.

e16371 Background: Yolk Sac Tumor of the Liver (YSTL) is an extremely rare extragonadal germ cell tumor with gonadal origin and histology which presents in the liver. While uncommon, this tumor is often misdiagnosed due to the similarities between YSTL, HCC, and Hepatoblastoma (HB). As this cancer can present with serious mortality, our review aimed to evaluate clinical findings, diagnostic workup, and treatments in patients with YSTL. Methods: We performed a literature search in PubMed from 1950 to October 2023 using filters English language and full text with keywords “Yolk sac tumor of the liver”, “Endodermal Sinus tumor of liver”, “Hepatic Yolk sac tumor”, and “Hepatic Endodermal sinus tumor”. We also conducted a combined search query with all these search terms and “primary”. Patients were included in the study if they had primary YSTL and no other malignancy. Results: Our results looked at 19 patients ranging from 15 months to 64 years with median age being 27 years, including 13 female (68%) and 6 male (32%) patients, percentages reflect the total number of patients. The key presenting symptom in adults was abdominal pain (55%), while the key presenting symptom in children was abdominal distention (63%). All patients in the study had a diagnostic workup that included imaging and pathology. Imaging included CT Abdomen (68%) and MRI (37%), in 58% of patients a solitary mass was seen on imaging, while in 42% of patients multiple hepatic masses were seen. Histology workup mainly noted Shiller Duval Bodies(SDBs)(76%). Molecular Markers included AFP(42%), Alpha-1 anti-trypsin(A1AT)(26%), SALL4(21%), Pancytokeratin(PK)(11%), and Placental-like alkaline phosphatase(PALP)(11%). Treatment included chemotherapy(58%), surgery(47%), transplant(11%), and trans-arterial chemoembolization(5%). Out of the 11 patients who were treated with chemotherapy, 91% received the bleomycin, etoposide, and cisplatin (BEP) regimen. The remaining 9 % of patients received a regimen of cisplatin, adriamycin, and pepleomycin. Conclusions: YSTL is a unique tumor presenting in patients of all ages, tending to present vaguely often with abdominal pain or distension. Diagnostic workup often includes abdominal imaging (MRI and CT Abdomen) and pathology with a focus on SDBs on histologic examination and stains like AFP, A1AT, SALL4, etc. Treatment often focuses on surgery and chemotherapy, notably BEP. Though both HCC and HB traditionally present as a multifocal liver mass on imaging along with positive staining for AFP and PK, our study helps differentiate this tumor from others by emphasizing the importance of SDBs in diagnosis and highlighting new molecular markers to help make the diagnosis easier.

1335. Retrospective evaluation of doxycycline for the treatment of Lyme disease among young children

Abstract Background Lyme disease is the most common pediatric tickborne infection. Due to largely disproven concerns of doxycycline-related dental staining among patients < 8 years old, no prospective data exist on efficacy and adverse effects in young children with Lyme disease. Based on emerging data, our institution has used doxycycline during the past decade when alternatives cannot be given. Our study aims to describe short-term adverse effects and treatment failures among young children receiving oral doxycycline for Lyme disease. Methods Retrospective chart review of patients < 8 years old within the Stony Brook Medicine system from 2010-2020. Patients were identified by ICD-9/-10 codes for Lyme disease prescribed doxycycline at the same visit. We excluded those lacking an objective finding of Lyme disease, including single or multiple erythema migrans (EM), facial nerve palsy, carditis, meningitis (headache with pleocytosis >5 WBC/μL), and/or arthritis, those with an alternative diagnosis, and those receiving post-tick exposure prophylactic doxycycline. Data collected included demographics, symptoms, laboratory results, treatments, and outcomes. Descriptive statistics were calculated. Results 32 charts were included. Average age was 5.1 years. 66% were male. The majority of the patients presented with a single EM (Table for presenting symptoms). Initial antibiotics were doxycycline (63%) or a beta-lactam (37%). Rationale for doxycycline included beta-lactam allergy or intolerance (47%), required for treatment of clinical syndrome (such as CNS disease) (28%), concern for alternative tickborne infection (3%), and no reason given (22%). There were no severe adverse reaction to doxycycline; 2 patients stopped due to nausea/vomiting and 1 due to refusal of oral medications. Among the 29 patients who completed doxycycline, there were no known Lyme disease treatment failures. Presenting symptoms of children <8 years old treated with doxycycline for Lyme disease Total percent exceeds 100% due to patients presenting with multiple symptoms. Percent calculation based on all included patients (n = 32). Conclusion In this small cohort of young children with Lyme disease, doxycycline was generally well-tolerated, without severe short-term adverse effects, and resulted in no treatment failures. As there is no prospective data evaluating doxycycline in this population and future randomized trials are unlikely, the data presented provides reassurance that doxycycline is effective and safe for this indication. Disclosures All Authors: No reported disclosures.

Clinico-epidemiological characteristics of pediatric COVID-19 patients in Bangladesh

Background: The objective of the study was to delineate the clinico-epidemiological characteristics of pediatric coronavirus disease-2019 (COVID-19) patients.Methods: This observational study included 290 pediatric patients with a definite diagnosis of COVID-19 admitted to Dhaka Shishu hospital, Bangladesh, from April 2021 to October 2021. Clinical and epidemiological characteristics were analyzed based on demographic data, medical history, laboratory tests, and outcome information. Data analysis was performed with SPSS 26. Ethical measures were taken in compliance with the current declaration of Helsinki, and final analysis was performed using SPSS 26.Results: Of all, 42 (14.5%) were neonates (<28 days), 88 (30.3%) were infants (28 days to <1 year) and 160 (55.2%) were children (1-17 years). The median age of the children was 18 (0.3-204) months, 58.3% were male, 62% had malnutrition, and presented with various clinical presentations. The main symptoms were fever (5.7%) and breathlessness (20%). Approximately 22% of children were asymptomatic, and 57% had at least one comorbidity. Fever and abdominal pain were predominant presenting symptoms in children compared with neonates and infants (p<0.01 for both), while cough and breathlessness were more frequent in infants (p<0.01 for both). The infants suffered significantly from neutropenia and lymphocytosis than neonates and children (p<0.001 for both). The discharge and death rates were 77.8% with 6.9%. Overall case fatality was higher among neonates than others.Conclusions: Compared to other pediatric groups, neonatal case fatality was higher, and COVID-19 in neonates, infants, and children has similar epidemiological and clinical manifestations. The findings from this study might help to guide the development of measures to prevent and treat this ongoing global pandemic of these particular age groups.

DIPG-27. Behavioral disturbances as underestimated presenting symptoms in children with Diffuse Intrinsic Pontine Glioma (DIPG)

PURPOSE: to describe how often behavioral and emotional changes occur at diagnosis in children with DIPG, or precede it. METHODS: the anamnesis, clinical history, psychological evaluation, and onset symptoms of all cases of DIPG diagnosed at Gaslini Institute between January 2010 and December 2020 were reviewed. RESULTS: 20 DIPGs were diagnosed, 7 males, with a median age of 7,6 years (range 2,4-16,2). All patients presented typical neurological symptoms: 16 had cranial nerves palsy, 12 ataxia, 8 dysarthria, 5 dysphagia, 5 hemiparesis, 5 headache, and 2 obstructive hydrocephalus. Behavioral disorders were found in 14 cases, with several manifestations and in various association: irritability and aggressive behavior in 6, ideomotor slowdown and apathy in 5, emotional dysregulation in 4, mood deflection in 3, sleep disturbances (i.e. nightmares, insomnia, and somniloquy) in 3, marked behavioral changes, school phobia and separation anxiety in 2, depersonalization crisis and phobia of waterdrops in the eyes in 2 patients each. In 6 cases behavioral disturbances were the presenting symptom, appearing one to twelve months earlier than the classic neurological deficits. In all patients, behavioral symptoms improved during Radiotherapy. CONCLUSIONS: behavioral disturbances, although well-known and described in the literature, are not commonly reported among the onset symptoms of DIPG, thus being probably underestimated. Their pathogenesis can be explained by neurophysiology: the brainstem contains reciprocal cerebro-ponto-cerebellar connections whose disruption compromises their modulatory function on affective and cognitive behavior. Furthermore, the reticular formation contains aggregates of neurons regulating several complex functions including the state of alertness (e.g. sleep and wakefulness), the perception of pain, and cognitive functions (e.g. attention, mood, and memory). A careful anamnestic and medical history together with a detailed psychological assessment should be always performed in all DIPGs at diagnosis, in order to bring out those underlying behavioral disorders which could benefit from early neuropsycological support.

Clinical and anthropological profile of children presenting with features of congenital heart disease at tertiary care centre

Background: Congenital heart diseases (CHD) are one of the most common causes of morbidity and mortality and also contribute to significant amount of malnutrition in pediatric population. This study was conducted to know the clinical features and anthropological parameters in children with CHD.Methods: Children between the age group of 0-18 years with presenting complaints of CHD were enrolled. All relevant information of individual patient were collected. Detailed evaluation and physical examination along with detailed anthropometry measurements were taken. Echocardiograms were performed for definite diagnosis.Results: A total of 70 children were present during the study period. The most common age group for CHD was 1 month to 5 years with 66% (46 cases). Acyanotic heart diseases were observed in 72.9% of cases and cyanotic CHD was observed in 21.4% of cases. VSD was the most common acyanotic CHD with 41.1% cases while TOF was the most common cyanotic CHD with 67% cases. The most usual presenting symptoms in children with CHDs were breathlessness with 70% cases, failure to thrive in 57% cases and cough in 43% cases. Male-to-female ratio was 1.7:1. The 63% children had weight-for-age of ≤3 SD while 61% children had height-for-age of ≤3 SD.Conclusions: Cyanotic CHDs were less common than acyanotic CHDs with infancy and early childhood being the most common age-groups for presentation. Malnutrition is common in children with CHD. Both height and weight were affected more in cyanotic group when compared to acyanotic group.

Clinical profile and outcome of children with congenital heart diseases admitted with acute events in a paediatric tertiary care unit in North Karnataka

Background: Congenital heart diseases are the predominant causes of paediatric morbidity and mortality. This study was done to know the clinical profile, various acute presentations, and risk factors for repeated hospitalizations and their outcome in children with congenital heart diseases.Methods: This prospective observational study of children in the age group of 0 hour-12 years, who were previously diagnosed and or newly diagnosed with congenital heart diseases.Results: A total of 102 children were present during the study period. The most common age group for congenital heart disease was infancy with 46.1% (47 cases) of children. Acyanotic heart diseases were observed in 73.5% (75 cases) of the total, followed by cyanotic CHD with 14.7% (15 cases), complex CHD with 9.8% (10 cases), and the least, valvular diseases with 2% (2 cases). The most usual presenting symptoms in children with CHDs were breathlessness with 66.7% (67 cases), followed by fever with 54.9% (56 cases) and cough with 48% (49 cases. In this study, 23.5% (24 cases) of the children were completely immunized. The protein-energy malnutrition was present in 51% of cases (52 cases). The 16.7% of them (17 cases) have got the motor developmental delay predominantly. The dysmorphic features were present in 19 cases (18.6%) of total cases. The chest X-ray findings were abnormal in 58.8% (60 cases). The most common risk factor(co-morbidity) in children with CHD was noticed to be anaemia in 43 cases (42.2%).Conclusions: The infancy and early childhood are the most common age group for the presentation of CHDs. Most of them had the associated risk factors (co-morbid) like nutritional anaemia, pneumonia, and failure to thrive.

Frequency of syncope as a presenting symptom in channelopathies diagnosed in childhood. Can the multivariable EGSYS score unmask these children?

Pediatric syncope raises cardiac etiology concern as it might be the first sign of life-threatening arrhythmia syndromes. Our aim was to study the incidence of syncope as the presenting symptom in children with arrhythmia syndromes, and if known, warning signs are helpful to reveal the arrhythmic origin. All data on children with channelopathy was followed by a tertiary pediatric cardiac center between 2000 and 2018 and data were reviewed retrospectively. Forty-eight patients were enrolled, representing long QT syndrome (n = 39), catecholaminergic polymorphic ventricular tachycardia (n = 5), and Brugada syndrome (n = 4). Presenting symptoms were syncope in 13 cases [27%] (including 7 initially mislabeled as epilepsy) and sudden cardiac arrest (SCA) in 9 cases [19%]. In the rest of the group, the concern for arrhythmic etiology was raised by either an abnormal ECG during sports medicine screening (n = 13) [27%] or a positive family history of channelopathy (n = 13) [27%]. None of the patients presenting with SCA had a prior syncopal history. Six patients presenting with syncope and afterward treated with ICD had an appropriate shock. Description of witnessed syncope was available in eight out of thirteen children presenting with syncope. Multivariable EGSYS score suggested cardiac origin (≥ 3 points) in 7 out of 8 (88%) patients.Conclusions: Syncope was a relatively uncommon presenting symptom of channelopathies in this sample and did not always precede sudden cardiac arrests. However, we found that multivariable EGSYS score can identify syncope of arrhythmic origin, raising suspicion for pediatric channelopathies even in patients previously misdiagnosed with epilepsy. What is known: • Cardiac syncope is rare in children but can be the first sign of a potentially fatal primary arrhythmia syndrome and is frequently misdiagnosed as atypical/therapy-resistant epilepsy. • Multivariate EGSYS score is effective to diagnose cardiac syncope in adults. What is new: • Cardiac syncope as a presenting symptom is not common in children with cardiac channelopathies and is not often present before sudden cardiac arrest. • Multivariable EGSYS score might identify cardiac syncope in children with a hereditary and secondary channelopathy.

Unilateral pulmonary vein atresia presenting with recurrent haemoptysis in a child: a case report

BackgroundHaemoptysis is an uncommon presenting symptom in children and is usually caused by acute lower respiratory tract infection or foreign body aspiration. We report a rare case of right unilateral pulmonary vein atresia (PVA) as the underlying aetiology of recurrent haemoptysis in a child.Case presentationA 4 years old girl presented with history of recurrent haemoptysis. Bronchoscopic evaluation excluded a foreign body aspiration but revealed right bronchial mucosal hyperaemia and varices. Diagnosis of right unilateral PVA was suspected on transthoracic echocardiography which demonstrated hypoplastic right pulmonary artery and non-visualization of right pulmonary veins. Final diagnosis was confirmed on cardiac CT angiography. A conservative treatment approach was opted with consideration for pneumonectomy in future when she is older.ConclusionRarer causes should be considered when investigating for recurrent haemoptysis in children. Bronchoscopy and cardiac imaging are useful tools to establish the diagnosis of unilateral PVA in our case.

Presenting symptoms in children with neurofibromatosis type 2

PurposeThe hallmark of neurofibromatosis type 2 (NF2) is the presence of bilateral vestibular schwannomas (VS) which however have not yet developed or grown to large size in children and young adolescents. Therefore, early diagnosis in pediatric patients without family history of NF2 has to be made by signs and symptoms not related to VS which will be reviewed in this study.MethodsA total of 70 children diagnosed for NF2 at an age of < 18 years were identified from our patient cohort. Age and symptoms, signs and pathology at symptom onset, age at NF2 diagnosis and symptoms leading to diagnosis as well as genetic findings were retrospectively reviewed.ResultsThe average age at symptom/sign onset was 8 ± 6 (range 0–17) years and 11 ± 5 (range 1–17) years at time of diagnosis. Fifteen children had a positive family history and were diagnosed upon additional clinical symptoms. The most frequent first presenting symptom/signs were ophthalmological abnormalities (49%), followed by cutaneous features (40%), non-VS-related neurological deficits (33%), and symptoms attributable to VS (21%). VS were not only the most common symptomatic neoplasm but also the most frequent pathological evidence for the diagnosis (72%). In 42 patients with available genetic testing results, pathogenic mutations were most frequently identified (n = 27).ConclusionThe presenting symptoms in NF2 children appear “unspecific” or less specific for classical NF2 compared with adult NF2 patients, posing a challenge particularly for cases without family history. In children, ophthalmological and cutaneous features should raise clinical suspicion for NF2 and referral to an NF2 specialized center is recommended.

Autoimmune phenomena involving the pituitary gland in children: New developing data about diagnosis and treatment.

The contribution of autoimmune phenomena to dysfunction of hypophysis or hypothalamus is far to be unraveled and also the specific pathways of hypophysitis are poorly understood until now, mostly for the pediatric population. Primary hypophysitis is rare in children and often regarded as an autoimmune disorder, following the evidence of lymphoplasmacytic infiltration in the pituitary gland, detection of anti-pituitary antibodies (APA) and anti-hypotalamus antibodies (AHA) by indirect immunofluorescence on cryostatic sections of human or primate hypophysis and hypothalamus, and coexistence with other autoimmune disorders. The rarity of this condition and the lack of ad hoc studies make hard any assessment of the real incidence of hypophysitis in pediatric patients, and also the role of APA and AHA has been poorly investigated in children with idiopathic hypopituitarism. Potential target autoantigens studied in autoimmune hypophysitis have been various pituitary-specific factors, chaperone proteins, alpha-enolase, secretogranins, chorionic somatomammotropin and intracellular transcription factors. Many clinical features both endocrine and neurologic or systemic can herald the onset of autoimmune hypophysitis. Antidiuretic hormone deficiency with central diabetes insipidus and growth retardation are the most significant presenting symptoms in children with hypophysitis, requiring a careful differential diagnosis with other causes of hypopituitarism, including tumors of the sellar region, differently from adults in whom adrenal insufficiency, hypogonadism, headache or diplopia might be the leading manifestations. Growth hormone deficiency is found in 3/4 of pediatric cases. Five histologic variants of primary hypophysitis have been described: lymphocytic, granulomatous, xanthomatous, IgG4-related and necrotizing: lymphocytic hypophysitis is the most frequent variant in the pediatric sceneries. Children with diagnosis of hypophysitis are also at risk of developing germinomas later in life, and require an extended follow-up in the long-term. Therapeutic options should be differentiated according to the rapidity of disease progression and modality of clinical onset, as acute pictures might require corticosteroids or immunosuppressant agents, while chronic forms may need a conservative management or appropriate hormone replacement therapies. This review updates and summarizes the most recent information related to the autoimmune involvement of hypophysis and hypothalamus in children, discusses the correlations between APA, AHA and disease activity, as well as the recommendations for treatment of primary hypophysitis from the pediatric perspective.

Fever as a Presenting Symptom in Children Evaluated for Ileocolic Intussusception: The Experience of a Large Tertiary Care Pediatric Hospital.

Intussusception is the most common cause of intestinal obstruction in young children, and delayed diagnosis may lead to bowel perforation. The objective of this study was to determine the prevalence of fever in patients with ileocolic intussusception and to determine its utility as a predictive symptom. This was a 3-year retrospective study, at a tertiary care center, of children aged 1 month to 6 years, presenting with possible intussusception. Charts were reviewed for clinical signs and symptoms at presentation, and all diagnostic studies were retrieved. A pediatric radiologist reviewed all ultrasounds. A total of 488 ultrasounds were performed on suspicion of intussusception. In 30 patients with confirmed ileocolic intussusception, mean age was 27 months and all were successfully reduced by air enema. Of 118 patients with fever, 2 had confirmed intussusception, 1 with pneumonia and 1 with acute otitis media, compared with 116 febrile patients with negative ultrasounds (P < 0.05). Traditional teaching is that intussusception presents as intermittent colicky abdominal pain, red currant jelly stool, vomiting, and a palpable abdominal mass, but it is important to remember that this classic triad is a very late finding and this condition should be recognized before the development of these findings. The concurrence of fever can help to rule out the possibility of intussusception and prompt the health care professional to search diligently for alternative infectious etiologies but cannot eliminate the possibility, especially when other findings suggestive of intussusception are present.

Anti-N-Methyl-D-Aspartate Receptor Encephalitis: A Review of Psychiatric Phenotypes and Management Considerations: A Report of the American Neuropsychiatric Association Committee on Research.

Anti-N-methyl-D-aspartate receptor (NMDAR) encephalitis is an autoimmune disorder characterized by prominent neuropsychiatric symptoms. Given the nature of its pathophysiology, psychiatrists tend to be one of the first clinicians encountering patients with the disease. In the present review of patients described in the literature with psychiatric symptoms, the authors aimed to characterize the psychiatric symptoms of the disease and its management in adults and adolescents as well as children (≤12 years old). A total of 544 patients fulfilled the inclusion criteria. The authors found that 77% of patients with NMDAR encephalitis presented initially with psychiatric symptoms. These were mostly agitation (59%) and psychotic symptoms (in 54%, especially disorganized behavior and visual-auditory hallucinations), with agitation even more commonly being the presenting symptom in children (66%). Where psychotic symptoms were detailed, visual (64%) and auditory (59%) hallucinations were the most common, as well as persecutory delusions (73%). However, delusions were not clearly characterized in most cases. Catatonia was described in 42% of adult patients and 35% of children. Of the patients with documented exposure to antipsychotics, 33% were suspected to have an adverse drug reaction (notably, neuroleptic malignant syndrome in 22% of the cases). On the basis of these findings, it is important to consider anti-NMDAR encephalitis in the differential diagnosis of patients with an acute onset psychosis, especially in association with agitation, catatonia, or adverse response to antipsychotics. Furthermore, it is important to use antipsychotics with caution in patients with suspected or confirmed anti-NMDAR encephalitis.

Pediatric Emergency Medicine Simulation Curriculum: Marijuana Ingestion.

Altered mental status can be a challenging presenting symptom in children due to the wide differential diagnosis, which ranges from the relatively benign to the life threatening. Marijuana ingestion and unintentional intoxication are becoming an increasingly common cause of altered mental status in children as marijuana use and availability of enticing marijuana edibles increase in the United States. Because children present with altered mental status rather than the typical marijuana toxidrome, appropriately managing these patients in emergency settings can be particularly challenging. This simulation-based curriculum involved the evaluation and management of a 6-year-old boy who presented with altered mental status from acute marijuana intoxication unbeknownst to his parents. Participants systematically evaluated a pediatric patient with a broad differential diagnosis of altered mental status and managed the patient with acute marijuana intoxication. This scenario may be modified based on trainee level (medical student vs. resident vs. fellow). A total of 20 trainees comprising six emergency medicine fellows and 14 pediatric residents and medical students participated in this simulation curriculum over three iterations. Trainees consistently rated it as an overall positive learning experience for pediatric altered mental status and toxidrome education. Low-frequency, high-risk illnesses such as altered mental status due to marijuana intoxication require providers to be familiar with their evaluation and management. This curriculum provides instructors with the materials to successfully implement and improve the simulation over time.

Clinical Study on Middle Ear Diseases in Children with Orofacial Clefts.

IntroductionOrofacial clefts are associated with middle ear diseases, but the magnitude of this problem is not generally well appreciated. The aim of this study was to describe the middle ear findings and audiological profile in children with orofacial clefts.Materials and methodsChildren with orofacial clefts attending plastic surgery and otorhinolaryngology departments of a tertiary hospital over one-year duration were included in this study. Ninety-six children with orofacial clefts were identified. They were categorized age-wise as zero to five years, more than five years to 10 years, and more than 10 years to 15 years. They underwent a detailed ear, nose, and throat examination followed by audiological tests, including brainstem evoked response audiogram (BERA), pure tone audiogram (PTA), and tympanometry.ResultsAmong 96 children with orofacial clefts, only 24 children (25%) had symptomatic ear problems, whereas on ear examination, 56 children (58.3%) had abnormal ear findings. Middle ear effusion (MEE) was the most common ear condition, and it was seen in 94 ears (48.9%). Cholesteatoma was noted in six children (3.1%). Out of 73 children in the zero to five age group, 58 children (79.5%) did not have any history of ear problem but 55.5% (81 ears) had features of MEE such as a dull tympanic membrane (TM). In the age group of more than five years to 10 years, only four children (28.5%) were symptomatic. Five children (55.5%) out of nine in the age group of more than 10 years had a symptomatic ear problem of which four children (44.4%) had chronic otitis media squamosal disease. The earlier age groups showed a trend of ear disease being asymptomatic compared to older children. Normal hearing was present in only 40 children (41.7%) and various degrees of hearing loss were seen in 56 children (58.3%). The mean air conduction threshold in the age group zero to five years, more than five years to 10 years, and more than 10 years were 33±8.3 decibels (dB), 25±6.2 dB, and 31.5±14 dB, respectively. Out of 144 ears (72 children) in the asymptomatic group, 67 ears (46.5%) had normal hearing. Seventy-seven ears (53.5%) had some degree of hearing loss. Mean air conduction hearing loss in the asymptomatic group was 29.8±7.3 dB.ConclusionThis study highlights the higher incidence of middle ear diseases compared to the presenting symptoms in children with orofacial clefts. This stresses on the need for a detailed otological evaluation to identify any middle ear pathology so that timely intervention can be taken.

Pediatric Eosinophilic Esophagitis in Slovenia: Data From a Retrospective 2005-2012 Epidemiological Study.

The aim of the present study was to assess the incidence, characteristics, therapeutic approach, and response to therapy of eosinophilic esophagitis (EoE) in a pediatric population from Slovenia. A retrospective study was conducted on a cohort of children newly diagnosed as having EoE, ages 0 to 18 years, residing in Slovenia, in the period between 2005 and 2012. For each child presenting symptoms, family and personal history of allergies, blood, skin and patch allergy tests, endoscopic and histological findings, types of therapy, and therapeutic success were recorded. In total, 25 patients of EoE were identified during the study period. The mean annual incidence (per 100,000 children) was 0.8 (95% confidence interval [CI] 0.58-1.16). The incidences of EoE increased from 0.2 (0.01-1.36), 0.3 (0.01-1.38), and 0.3 (0.01-1.40) in the period 2005-2007, respectively, to 1.8 (0.72-3.76), 1.0 (0.28-2.60), and 1.8 (0.72-3.65) in the period 2010-2012, respectively (P = 0.002). In 9 patients, symptomatic and histological remissions were achieved with specific food elimination diet: in 8 with 6-food elimination diet and in 1 with an additional budesonide. In majority of patients, budesonide improved only symptoms, but esophageal eosinophilia persisted. Twenty percent of our children had improvement of histology and symptoms of EoE in spite of gradual reintroduction of all food and stopping all medication. The annual incidence of childhood EoE in Slovenia is comparable with the reports from the developed European countries, and it increased by 6-folds in the last decade.

Catecholamine-secreting extra-adrenal pelvic ganglioneuroma in a child presenting with diaphoresis: A case report and review of literature

Diaphoresis is an uncommon presenting symptom in children. We present a 4 year old boy, with a history of increased sweating of 2 years duration. Review of systems was negative for diarrhea, flushing, or abdominal pain. On exam, the child had normal blood pressure and heart rate. An abdominal mass could not be appreciated. Laboratory studies were significant for modestly elevated serum, and urinary dopamine and norepinephrine levels. Computerized tomography scan showed a 31 × 39 × 51 mm pelvic mass. The patient underwent laparoscopic resection of the mass. After resection, catecholamine levels normalized, and sweating stopped. Pathologic evaluation of the surgical specimen revealed a maturing ganglioneuroma (GN). Health-care providers might easily overlook excessive sweating in a child, which can be a presenting symptom of catecholamine-secreting tumors. • We report a case of pelvic ganglioneuroma in a child who presented with diaphoresis. • Prolonged diaphoresis in a child warrants screening for catecholamine overproduction. • Preoperative adrenergic blockade may be indicated in hormonally active ganglioneuroma.

Large, segmental, circular vascular malformation of the small intestine (in a female toddler with hematochezia): unusual presentation in a child

BackgroundFailure to thrive and hematochezia in children may be alarm signs warranting endoscopy. In contrast, vascular malformations of the small intestine are uncommon in this age group. We report on a female toddler in whom various imaging techniques revealed an unusually large segmental vascular malformation of the ileum as the cause of the child’s main clinical symptoms.Case presentationA 19 months old girl presented with severe anemia (Hb 3 mmol/l), failure to thrive and chronic diarrhea. Diagnostics for intestinal blood loss and pathogens were negative. The child had duodenoscopy, also for histological diagnosis of celiac disease, with negative results. A dietary protocol was suggestive for inadequate iron intake and she was supplemented. After symptomless four-months the child presented again, now with mild abdominal pain and, for the first time, hematochezia. An orienting abdominal ultrasound (US) study showed a suspicious tumorous bowel condition. A subsequent detailed abdominal US supplemented by a saline enema during investigation (i.e., “hydrocolon”, to improve outlining of the formation’s localization) revealed a large circumferential cystiform vascular mass of the ileum causing segmental ileal obstruction.Complementing preoperative abdominal hydro-MRI, planned based on the findings of the US study, confirmed the suspected vascular malformation of the ileum and exquisitely outlined the extent, location and anatomy.The patient was successfully operated laparoscopically, the affected ileum segment with the mass was completely removed as proven by histology, and the child recovered well.ConclusionsThe huge segmental vascular malformation of the distal ileum described here is an extreme rarity in young children. Although the reported child’s presenting symptoms malabsorption and malnutrition could have been responsible for its severe anemia, this was obviously caused by blood losses from the ileal vascular malformation. It was due to incipient abdominal pain rather than hematochezia that abdominal US was performed and proved crucial for correctly diagnosing this rare malformation. Even in this extensive case detailed imaging work-up including adapted MRI added all information necessary for minimal invasive laparoscopic en bloc resection.

Are parents and professionals making shared decisions about a child's care on presentation of a suspected shunt malfunction: a mixed method study?

Shunts, the main treatment for hydrocephalus, are problematic as they frequently malfunction. Identifying shunt malfunction requires parents to recognize its symptoms and health professionals to integrate parents' information about the child's symptoms within the clinical assessment to reach a diagnosis. To investigate parent-professional shared decision making during the diagnosis of suspected shunt malfunction in acute hospital admissions. A mixed method study involving audio recordings of admission consultations, a shared decision making questionnaire and interviews 1-week post-consultation, was undertaken. Twenty-eight family members and fourteen health professionals participated. The interactions were analysed using conversational analysis, framework approach for the interview data and descriptive statistics for questionnaire responses. Both parents and professionals focussed on establishing a diagnosis and ruling out shunt malfunction when a child with hydrocephalus was ill. Participants' perceived effective collaboration as central to this task: parents wanted to contribute to the process of diagnosis by providing information about the likely cause of symptoms. Professionals were satisfied with the level of involvement by parents, although parent satisfaction was more variable. The challenge for professionals was to integrate parents' expertise of their child's presenting symptoms within clinical decision making processes. In this context, both parents' and professionals' perceived their interactions to be about problem-solving, rather than making decisions about treatments. Although the shared decision-making model can help patients to make better decisions between treatment options, it is unclear how best to support collaboration between professionals and parents to ensure a good problem-solving process.

Does Age Affect Presenting Symptoms in Children With Carbon Monoxide Poisoning?

Previous studies have reported on a link between carboxyhemoglobin (COHb) levels and the severity of presenting findings. However, studies on pediatric populations evaluating the effect of age on presenting symptoms are severely lacking. The aim of this study was to investigate the presence of any link between age and presenting symptoms in children with carbon monoxide (CO) poisoning. This retrospective study was undertaken in Ankara Children's Hematology and Oncology Hospital, a tertiary care center, between January 2007 and March 2010. The medical records of patients aged between 0 and 16 years with a confirmed diagnosis of CO poisoning, defined as the presence of a COHb level of more than 5%, were evaluated. Relevant information such as age, sex, source of CO, coaffected family members, month of presentation, time of presentation and presenting symptoms, duration of oxygen treatment in the emergency department, need for admission to an inpatient ward or intensive care unit, Glasgow Coma Scale scores, and administered treatments during follow-up was recorded for each patient on preprepared forms. For the purpose of comparison, patients were divided into 2 groups based on COHb levels (group 1, 5%-25%; group 2, >25%). Comparisons were also made after dividing patients into 3 age groups: infants (0-3 years), preschool and early-school children (4-8 years), and adolescents (9-16 years). The records of 261 patients were deemed sufficient for inclusion in the final analysis, 149 (57.1%) of which were female, and 112 (42.9%) were male, with a median age of 7.0 years (range, 1 month to 16 years) and a mean COHb level 16.9% (SD, 7.8%). Two hundred eighteen patients (83.5%) had a COHb between 5% and 25% on presentation, whereas the remaining 43 patients (16.5%) had a presenting COHb of greater than 25%. Neurologic symptoms such as headache, syncope, seizures, and confusion were encountered more frequently in the COHb greater than 25% group compared with the group with 5% to 25% COHb levels, with adolescents having more severe symptoms than do younger patients. In this study, we managed to demonstrate the presence of more severe symptoms in patients with a COHb level of 25% or greater. Further analysis revealed that severe symptoms were more pronounced in adolescents and that the severity of symptoms increased with age.