Thyroid surgery outcomes at a children's hospital: The value of a multidisciplinary team approach.

BACKGROUND: Our purpose is to describe the structure, function and outcomes of our multidisciplinary pediatric thyroid program and to evaluate our experience in comparison to other high-volume centers. METHODS: We reviewed all thyroid operations performed 10/2012 through 09/2019, and examined number of cases per year, patient demographics, procedures, final diagnoses and results. Primary outcomes were hypoparathyroidism and recurrent laryngeal nerve (RLN) injury at 12 months. Data were analyzed using descriptive statistics and univariate analyses. RESULTS: We performed 294 thyroid operations on 279 patients. Seventy-nine percent were female. Median age was 15 years (IQR: 12-17). Operations included total thyroidectomy (65%), lobectomy (30%) and completion thyroidectomy (5%). Most common diagnoses were Graves' disease (35%), malignancy (29%), and benign nodule (20%). We developed an evidence-based clinical pathway and conducted weekly multidisciplinary meetings. A clinical data specialist reviewed process and outcome measures routinely. Overall, 6 patients (2.0%) had hypoparathyroidism and 2 (0.7%) had unilateral RLN injury at 12 months. Two of the patients with clinical suspicion of permanent hypoparathyroidism were ultimately weaned off calcium. Both patients with RLN injury had extensive locally advanced malignant disease involving the nerve. CONCLUSIONS: Our multidisciplinary team achieved excellent long-term outcomes for pediatric thyroid surgery comparable to other high-volume pediatric and adult centers.

An Online Teaching Resource to Support UK Medical Student Education During the COVID-19 Pandemic: A Descriptive Account.

This paper describes the development and use of the bespoke digital learning resource CAPSULE (Clinical and Professional Studies Unique Learning Environment) which was launched UK wide in May 2020 to facilitate the delivery of core learning content for UK medical students during the COVID-19 pandemic. CAPSULE is a digital learning resource comprising case-based scenarios and multiple-choice questions, encompassing all undergraduate medical specialities and supported by a pan-speciality editorial board. Following the COVID-19 pandemic lockdown and loss of face-to-face learning opportunities, CAPSULE was made available to all UK medical schools in May 2020. Following a global content review and edit and UK wide rollout, over 41,000 medical students and 3200 faculty registered as users. Approximately 1.5 million cases were completed in the first 12 months of use by up to 4500 distinct monthly users. Feedback from both students and faculty has been highly positive. CAPSULE continues to be used within UK medical schools and has allowed an entire cohort of medical students to access core curriculum content and progress their studies during the COVID-19 pandemic. Future directions may include further integration into UK medical school curricula, enhancement of platform functionality and potential expansion on an international scale.

Recent advances in the use of ultrasound and related techniques in diagnosing and predicting outcomes in biliary atresia.

PURPOSE OF REVIEW: Biliary atresia (BA) is the leading cause of chronic liver disease and the most common indication for pediatric liver transplantation. The use of ultrasound (US) and related techniques continues to evolve to help diagnose BA as well as potentially to help predict outcomes after treatment with the Kasai portoenterostomy (KP). RECENT FINDINGS: There are no US findings that are definitive for BA; however, signs which are consistent with BA include gallbladder abnormalities, the triangular cord sign, presence of hepatic subcapsular flow, and hilar lymphadenopathy. Elastography techniques to measure liver stiffness may also increase the diagnostic accuracy of detecting BA, particularly in older infants or without other US findings. In addition, both US and elastography are still being studied as potential methods to predict outcomes after KP such as the development of portal hypertension and the need for liver transplant. SUMMARY: US findings in the diagnosis of BA are well characterized. Future studies will help determine the utility of elastography in diagnosing BA, as well as both US and elastography in monitoring and predicting disease outcomes after KP.

Radiology reporting of osteoporotic vertebral fragility fractures on computed tomography studies: results of a UK national audit.

OBJECTIVES: To evaluate organisational reporting infrastructure and patient-related reporting data in the diagnosis of vertebral fragility fractures (VFFs) as demonstrated on computed tomography (CT). METHODS: Organisational and patient-specific questionnaires were developed by consensus between The Royal College of Radiologists, the Royal College of Physicians, and the Royal Osteoporosis Society. The patient-specific component of the audit involved analysis of CT reporting data acquired from 50 consecutive non-traumatic studies including the thoracolumbar spine. Ethical approval for this type of study is not required in the UK. All UK radiology departments with an audit lead (auditor) registered with The Royal College of Radiologists (RCR) were invited to participate in this retrospective audit. RESULTS: In total, 127 out of 202 departments (63%) supplied data to the study, with inclusion of 6357 patients. Overall, 1362/6357 patients (21.4%) had a fracture present on auditor review of the CT imaging. There was a lack of compliance with all audit standards: 79% of reports commented on the vertebrae (target 100%), fracture severity was mentioned in 26.2% (target 100%), the recommended terminology 'vertebral fracture' was used in 60.1% (target 100%), and appropriate onward referral was recommended in 2.6% (target 100%). CONCLUSIONS: The findings from this study should be used to provide impetus to improve the diagnosis and care for patients with osteoporotic VFFs. Solutions are multifactorial, but radiologist and local osteoporosis/fracture liaison service engagement is fundamental, combined with necessary development of electronic report notification systems and expansion of supporting fracture services. KEY POINTS: • Early detection and diagnosis of vertebral fragility fractures (VFFs) significantly reduce patient morbidity and mortality. This study describes the results of a retrospective UK-wide audit evaluating current radiology reporting practice in the opportunistic diagnosis of VFFs as demonstrated on computed tomography (CT) studies including the spine. • Key audit standards included comment made on bone integrity in primary report (target 100%), comment made on severity of fractures (90%), report used recommended terminology 'fracture' (100%), and report made appropriate recommendations for referral/further assessment (100%). The audit results demonstrated a lack of compliance with all audit standards; lack of compliance was most marked in the use of recommended terminology (achieved 60.3%), in relation to comment on fracture severity (achieved 26.2%) and for recommendation for referral/further assessment (achieved 2.6%). • Solutions are challenging and multifactorial but the opportunity exists for all radiologists to examine their practice and directly improve patient care.

Healthcare access for asylum seekers and refugees in England: a mixed methods study exploring service users' and health care professionals' awareness.

BACKGROUND: With the aim of decreasing immigration, the British government extended charging for healthcare in England for certain migrants in 2017. There is concern these policies amplify the barriers to healthcare already faced by asylum seekers and refugees (ASRs). Awareness has been shown to be fundamental to access. This article jointly explores (i) health care professionals' (HCPs) awareness of migrants' eligibility for healthcare, and (ii) ASRs' awareness of health services. METHODS: Mixed methods were used. Quantitative survey data explored HCPs' awareness of migrants' eligibility to healthcare after the extension of charging regulations. Qualitative data from semi-structured interviews with ASRs were analyzed thematically using Saurman's domains of awareness as a framework. RESULTS: In total 514 HCPs responded to the survey. Significant gaps in HCPs' awareness of definitions, entitlements and charging regulations were identified. 80% of HCP respondents were not confident defining the immigration categories upon which eligibility for care rests. Only a small minority (6%) reported both awareness and understanding of the charging regulations. In parallel, the 18 ASRs interviewed had poor awareness of their eligibility for free National Health Service care and suitability for particular services. This was compounded by language difficulties, social isolation, frequent asylum dispersal accommodation moves, and poverty. CONCLUSION: This study identifies significant confusion amongst both HCP and ASR concerning eligibility and healthcare access. The consequent negative impact on health is concerning given the contemporary political climate, where eligibility for healthcare depends on immigration status.

Bone age determination using only the index finger: a novel approach using a convolutional neural network compared with human radiologists.

BACKGROUND: Recently developed convolutional neural network (CNN) models determine bone age more accurately than radiologists. OBJECTIVE: The purpose of this study was to determine whether a CNN and radiologists can accurately predict bone age from radiographs using only the index finger rather than the whole hand. MATERIALS AND METHODS: We used a public anonymized dataset provided by the Radiological Society of North America (RSNA) pediatric bone age challenge. The dataset contains 12,611 hand radiographs for training and 200 radiographs for testing. The index finger was cropped from these images to create a second dataset. Separate CNN models were trained using the whole-hand radiographs and the cropped second-digit dataset using the consensus ground truth provided by the RSNA bone age challenge. Bone age determination using both models was compared with ground truth as provided by the RSNA dataset. Separately, three pediatric radiologists determined bone age from the whole-hand and index-finger radiographs, and the consensus was compared to the ground truth and CNN-model-determined bone ages. RESULTS: The mean absolute difference between the ground truth and CNN bone age for whole-hand and index-finger was similar (4.7 months vs. 5.1 months, P=0.14), and both values were significantly smaller than that for radiologist bone age determination from the single-finger radiographs (8.0 months, P<0.0001). CONCLUSION: CNN-model-determined bone ages from index-finger radiographs are similar to whole-hand bone age interpreted by radiologists in the dataset, as well as a model trained on the whole-hand radiograph. In addition, the index-finger model performed better than the ground truth compared to subspecialty trained pediatric radiologists also using only the index finger to determine bone age. The radiologist interpreting bone age can use the second digit as a reliable starting point in their search pattern.

Correction to: Pediatric ileocolic intussusception: new observations and unexpected implications.

In this article, the fourth author's name is misspelled. The correct spelling, as shown above, should be "Nadia F. Mahmood."

CAR T Cells Administered in Combination with Lymphodepletion and PD-1 Inhibition to Patients with Neuroblastoma.

Targeting disialoganglioside (GD2) on neuroblastoma (NB) with T cells expressing a first-generation chimeric antigen receptor (CAR) was safe, but the cells had poor expansion and long-term persistence. We developed a third-generation GD2-CAR (GD2-CAR3) and hypothesized that GD2-CAR3 T cells (CARTs) would be safe and effective. This phase 1 study enrolled relapsed or refractory NB patients in three cohorts. Cohort 1 received CART alone, cohort 2 received CARTs plus cyclophosphamide and fludarabine (Cy/Flu), and cohort 3 was treated with CARTs, Cy/Flu, and a programmed death-1 (PD-1) inhibitor. Eleven patients were treated with CARTs. The infusions were safe, and no dose-limiting toxicities occurred. CARTs were detectable in cohort 1, but the lymphodepletion induced by Cy/Flu increased circulating levels of the homeostatic cytokine interleukin (IL)-15 (p = 0.003) and increased CART expansion by up to 3 logs (p = 0.03). PD-1 inhibition did not further enhance expansion or persistence. Antitumor responses at 6 weeks were modest. We observed a striking expansion of CD45/CD33/CD11b/CD163+ myeloid cells (change from baseline, p = 0.0126) in all patients, which may have contributed to the modest early antitumor responses; the effect of these cells merits further study. Thus, CARTs are safe, and Cy/Flu can further increase their expansion.

Activating MAPK1 (ERK2) mutation in an aggressive case of disseminated juvenile xanthogranuloma.

Juvenile xanthogranuloma (JXG) is a rare histiocytic disorder that is usually benign and self-limiting. We present a case of atypical, aggressive JXG harboring a novel mitogen-activated protein kinase (MAPK) pathway mutation in the MAPK1 gene, which encodes mitogen-activated protein kinase 1 or extracellular signal-regulated 2 (ERK2). Our analysis revealed that the mutation results in constitutive ERK activation that is resistant to BRAF or MEK inhibitors but susceptible to an ERK inhibitor. These data highlight the importance of identifying specific MAPK pathway alterations as part of the diagnostic workup for patients with histiocytic disorders rather than initiating empiric treatment with MEK inhibitors.

Comparison of the diagnostic accuracy of PET/MRI to PET/CT-acquired FDG brain exams for seizure focus detection: a prospective study.

BACKGROUND: There is great interest in positron emission tomography (PET)/magnetic resonance (MR) as a clinical tool due to its capacity to provide diverse diagnostic information in a single exam. OBJECTIVE: The goal of this exam is to compare the diagnostic accuracy of PET/MR-acquired [F-18]2-fluoro-2-deoxyglucose (FDG) brain exams to that of PET/CT with respect to identifying seizure foci in children with localization-related epilepsy. MATERIALS AND METHODS: Institutional Review Board approval and informed consent were obtained for this Health Insurance Portability and Accountability Act-compliant, prospective study. All patients referred for clinical FDG-PET/CT exams of the brain at our institution for a diagnosis of localization-related epilepsy were prospectively recruited to undergo an additional FDG-PET acquisition on a tandem PET/MR system. Attenuation-corrected FDG images acquired at PET/MR and PET/CT were interpreted independently by five expert readers. Readers were blinded to the scanner used for acquisition and attenuation correction as well as all other clinical and imaging data. A Likert scale scoring system (1-5) was used to assess image quality. The locale of seizure origin determined at multidisciplinary epilepsy surgery work rounds was considered the reference standard. Non-inferiority testing for paired data was used to compare the diagnostic accuracy of PET/MR to that of PET/CT. RESULTS: The final study population comprised 35 patients referred for a diagnosis of localization-related epilepsy (age range: 2-19 years; median: 11 years; 21 males, 14 females). Image quality did not differ significantly between the two modalities. The accuracy of PET/MR was not inferior to that of PET/CT for localization of a seizure focus (P=0.017). CONCLUSION: The diagnostic accuracy of FDG-PET images acquired on a PET/MR scanner and generated using MR-based attenuation correction was not inferior to that of PET images processed by traditional CT-based correction.

The optimal timing of surgical resection in high-risk neuroblastoma.

BACKGROUND: While most high-risk neuroblastoma (HRNB) patients are enrolled in cooperative group or institutional protocols, variability exists within these protocols as to when surgical resection of the primary tumor should be performed after neoadjuvant induction chemotherapy. We sought to determine if the number of chemotherapy cycles prior to surgery affects surgical or survival outcomes in HRNB patients. METHODS: We performed a retrospective review of all HRNB patients <18years of age from 2000 to 2010, at Texas Children's Hospital. Patients were stratified based on the number of neoadjuvant induction chemotherapy cycles prior to surgical resection. Pre and post- chemotherapy tumor size, MYCN status, iodine-131-metaiodobenzylguanidine (MIBG) score at diagnosis, extent of surgical resection, estimated surgical blood loss, post-operative outcomes, and event free (EFS) and overall survival (OS) were evaluated. Data were analyzed using Wilcoxon rank-sum test, Kruskal-Wallis test, Fisher's exact test, Kaplan-Meier analyses, and Cox regression analyses. P-value <0.05 was considered significant. RESULTS: Data from 50 patients with HRNB were analyzed. Patients were stratified by the number of cycles of chemotherapy received prior to surgery. Six patients received 2cycles of chemotherapy (12%), 20 patients received 3cycles (40%), 13 patients received 4cycles (26%), and 11 patients received 5cycles (22%) prior to surgical resection of the primary tumor. The 5-year OS was 33%, 45%, 83% and 36% in patients who received 2, 3, 4 and 5cycles of chemotherapy prior to surgery, respectively (p=0.07). Multivariate analysis revealed that patients who received 4cycles of chemotherapy had a significantly lower mortality (HR: 0.11, 95% CI: 0.01-0.87, p=0.04) compared to those with 2cycles of chemotherapy. Among the different cohorts, there were no differences with respect to MYCN status, MIBG score at diagnosis, incidence of bone marrow metastasis, extent of surgical resection, estimated blood loss, incidence of post-operative complications, or length of stay. CONCLUSION: HRNB patients who receive 4cycles of chemotherapy prior to surgical resection have a superior OS than patients who receive 2. Based on the superior survival of patients who received 4cycles of chemotherapy prior to surgery, further studies are warranted to elucidate these differences.

Searching for certainty: findings predictive of appendicitis in equivocal ultrasound exams.

BACKGROUND: Ultrasound (US) is the preferred imaging modality for evaluating suspected pediatric appendicitis. However, borderline appendiceal enlargement or questionable inflammatory changes can confound interpretation and lead to equivocal exams. OBJECTIVE: The purpose of this study was to determine which findings on equivocal US exams are most predictive of appendicitis. MATERIALS AND METHODS: All US exams performed for suspected pediatric appendicitis from July 1, 2013, through July 9, 2014, were initially interpreted using a risk-stratified scoring system. Two blinded pediatric radiologists independently reviewed US exams designated as equivocal and recorded the following findings: increased wall thickness, loss of mural stratification, peri-appendiceal fat inflammation, peri-appendiceal fluid, appendicolith and maximum appendiceal diameter. A third pediatric radiologist resolved discrepancies. US features were correlated with the final diagnosis via multivariate analysis. RESULTS: During the study period, 162/3,750 (4.3%) children had US exams initially interpreted as equivocal (mean age 9.8 +/- 3.8 years). Five outpatients were lost to follow-up. Forty-eight of the remaining 157 (30.6%) children had an operative diagnosis of appendicitis. Findings significantly associated with appendicitis were loss of mural stratification (odds ratio [OR] = 6.7, P=0.035), peri-appendiceal fat inflammation (OR = 10.0, P<0.0001) and appendicolith (OR = 15.8, P=0.025). While appendiceal diameter tended to be larger in patients with appendicitis, the difference was not statistically significant. CONCLUSION: Loss of mural stratification, peri-appendiceal fat inflammation and an appendicolith are significant predictors of appendicitis in children with otherwise equivocal US exams. While maximum appendiceal diameter is not statistically associated with appendicitis in our study, mean appendiceal diameter of 6.7 mm in those without appendicitis suggests that the customary upper normal limit of 6 mm is too sensitive.

Association of Ego Defense Mechanisms with Academic Performance, Anxiety and Depression in Medical Students: A Mixed Methods Study.

BACKGROUND:  Ego defense mechanisms are unconscious psychological processes that help an individual to prevent anxiety when exposed to a stressful situation. These mechanisms are important in psychiatric practice to assess an individual's personality dynamics, psychopathologies, and modes of coping with stressful situations, and hence, to design appropriate individualized treatment. Our study delineates the relationship of ego defense mechanisms with anxiety, depression, and academic performance of Pakistani medical students. METHODS:  This cross-sectional study was done at CMH Lahore Medical College and Fatima Memorial Hospital Medical and Dental College, both in Lahore, Pakistan, from December 1, 2014 to January 15, 2015. Convenience sampling was used and only students who agreed to take part in this study were included. The questionnaire consisted of three sections: 1) Demographics, documenting demographic data and academic scores on participants' most recent exams; 2) Hospital Anxiety and Depression Scale (HADS); and 3) Defense Style Questionnaire-40 (DSQ-40). The data were analyzed with SPSS v. 20. Mean scores and frequencies were calculated for demographic variables and ego defense mechanisms. Bivariate correlations, one-way ANOVA, and multiple linear regression were used to identify associations between academic scores, demographics, ego defense mechanisms, anxiety, and depression. RESULTS:  A total of 409 medical students participated, of whom 286 (70%) were females and 123 (30%) were males. Mean percentage score on the most recent exams was 75.6% in medical students. Bivariate correlation revealed a direct association between mature and neurotic ego defense mechanisms and academic performance, and an indirect association between immature mechanisms and academic performance. One-way ANOVA showed that moderate levels of anxiety (P < .05) and low levels of depression (P < .05) were associated with higher academic performance. CONCLUSION:  There was a significant association between academic performance and ego defense mechanisms, anxiety, and depression levels in our sample of Pakistani medical students.

Renal Ultrasound for Infants Younger Than 2 Months With a Febrile Urinary Tract Infection.

OBJECTIVE: The purpose of this study is to determine the performance of renal ultrasound for detecting vesicoureteral reflux (VUR) and obstructive uropathies in infants younger than 2 months with a febrile urinary tract infection (UTI). MATERIALS AND METHODS: We performed a retrospective cohort study of infants younger than 2 months with fever and culture-proven UTI presenting from July 1, 2008, through December 31, 2011, with renal ultrasound and voiding cystourethrogram (VCUG) performed within 30 days of UTI diagnosis. Two pediatric radiologists independently reviewed the renal ultrasound and VCUG findings. Results of the renal ultrasound were deemed abnormal if collecting system dilation, renal size asymmetry, collecting system duplication, urothelial thickening, ureteral dilation, or bladder anomalies were present. Sensitivity, specificity, positive predictive value (PPV), and negative predictive value (NPV) of renal ultrasound were calculated using VCUG as reference standard. RESULTS: Of the 197 patients included (mean [SD] age, 33 [ 15 ] days; male-to-female ratio, 2:1), 25% (n = 49) had VUR grades I-V, with 16% (n = 31) having VUR grades III-V and 8% (n = 15) having VUR grades IV-V. For grades I-V VUR, sensitivity was 32.7% (95% CI, 20.0-47.5%), specificity was 69.6% (95% CI, 61.5-76.9%), PPV was 26.2% (95% CI, 15.8-39.1%), and NPV was 75.7% (95% CI, 67.6-82.7%). For grades III-V VUR, sensitivity was 51.6% (95% CI, 33.1-69.9%), specificity was 72.9% (95% CI, 65.5-79.5%), PPV was 26.2% (95% CI, 15.8-39.1%), and NPV was 89.0% (95% CI, 82.5-93.7%). For grades IV-V VUR, sensitivity was 86.7% (95% CI, 59.5-98.3%), specificity was 73.6% (95% CI, 66.6-79.9%), PPV was 21.3% (95% CI, 11.9-33.7%), and NPV was 98.5% (95% CI, 94.8-99.8%). No obstructive uropathies were diagnosed by VCUG in patients with normal renal ultrasound findings. CONCLUSION: In infants younger than 2 months, a normal renal ultrasound makes the presence of grades IV and V VUR highly unlikely but does not rule out lower grades of VUR.

Acute abdominal pain presenting as a rare appendiceal duplication: a case report.

INTRODUCTION: Appendiceal duplication is a rare anomaly that can manifest as right lower quadrant pain. There are several variations described for this condition. We recommend aggressive operative management should this anatomical variation present in the presence of acute appendicitis. CASE PRESENTATION: We report the case of a 15-year-old African American girl who presented to our hospital with right lower quadrant pain and was subsequently found to have appendiceal duplication. CONCLUSION: There are two categorical systems that have described and stratified appendiceal duplication. Both classification systems have been outlined and referenced in this case report. A computed tomography scan has been included to provide a visual aid to help identify true vermiform appendiceal duplication. The presence of this anatomical abnormality is not a reason for surgical intervention; however, should this be found in the setting of acute appendicitis, aggressive resection of both appendices is mandatory.

Oxygen saturations of medical inpatients in a Malawian hospital: cross-sectional study of oxygen supply and demand.

Oxygen is a World Health Organisation listed essential drug yet provision of oxygen in developing countries often fails to meet demand. The aim of this study was to evaluate the need for supplementary oxygen against oxygen delivery capacity at a large teaching hospital in Malawi. A cross-sectional study of all adult medical inpatients and assessment of oxygen provision over a 24-hour period was conducted. 144 patients were included in the study, 14 of whom met local and international criteria for oxygen therapy (oxygen saturations of <90%). Four were receiving oxygen. Of the 8 oxygen concentrators available, only 4 were functional. In conclusion, we identified a need for oxygen that was greater than the supply.

Serum bilirubin and antioxidant levels in first degree relatives of patients with ischemic heart disease and normal subjects.

BACKGROUND: Coronary diseases appear to result from an overbalance between radical-generating, compared with radical-scavenging systems, a condition called as oxidative stress. Total antioxidant status (TAS) in human plasma reflects the balance between oxidants and antioxidants in each system. Bilirubin has been considered an antioxidant, with capacity to remove reactive species of oxygen. Present study tried to measure the total antioxidant status of first degree relatives of patients with IHD. Study also tried to evaluate the prognostic role of serum bilirubin in disease prevention or progression. METHODS: Seventy five apparently healthy subjects in age group 20-50 years, comprising equal number of males and females, who were first degree relatives of ischemic heart disease patients, were included in the study. Family members were divided on the bases of their numbers, i.e., one family member (Group-A), 2 family members (Group-B) and more than 3 family members (Group-C). Study was cross sectional and carried out in a period of 6 months (Jun 2008-Jan 2009). Subjects with letter of consent were taken from general population. Seventy five healthy age matched people with no history of ischemic heart disease in family were taken as control. An overnight fasting blood sample was taken. Total antioxidant status was determined using a commercially available kit. Serum bilirubin was estimated by auto analyzer. RESULTS: Family history of ischemic heart disease with serum bilirubin showed a significant negative correlation (p<0.05). But the values of TAS failed to show any significant correlation with the family history. It was observed that the value of serum bilirubin was decreased significantly (p<0.05) with an increased number of family members. Total antioxidant status failed to show any significant difference among all the three groups. CONCLUSION: Our data demonstrated that reduced serum levels of bilirubin were seen in people with a higher prevalence of coronary artery disease in the family. The levels of serum bilirubin showed a downward trend with an increase in number of family members affected with ischemic heart disease. Present study failed to show a definite association of total antioxidant status with family history of ischemic heart disease. Additional studies are still necessary on large number of first degree relatives to confirm and demonstrate the association of these findings with clinical outcomes.

Macrodystrophia lipomatosa: A troubled second big toe.

We report the case of a 4-year-old boy who presented to our facility with an enlarged right second toe. After radiography ruled out acute pathology, an MRI showed increased adipose tissue at the distal aspect of the appendage. Although the parent felt that the appendage was unaesthetic, there was no functional issue, and further discussion with the pediatricians and pediatric surgeons eliminated the need for immediate intervention. Macrodystrophia lipomatosa is a rare entity that predominantly affects children. Distributed evenly in males and females, the disease refers to hypertrophy of fibroadipose tissue of the distal upper and lower extremities.