Erdheim-Chester Disease Presenting as Bilateral Facial Masses: A case report and review of literature.

Erdheim-Chester disease (ECD) is a rare form of non-Langerhans cell histiocytosis with unknown aetiology. It is recently recognised to be neoplastic with genetic mutations affecting the mitogen-activating protein kinase pathway. We report a 49-year-old female patient who initially presented in 2012 to a tertiary care centre in Muscat, Oman, with bilateral facial masses. These were removed but later recurred over a period of 10 years. She then presented with xanthelasmas, bone lesions, secondary infertility due to hypothalamic hypogonadism, diabetes insipidus and Hashimoto's hypothyroidism. The facial masses were biopsied and they showed classic morphological features in the form of diffuse infiltration by foamy histiocytes with scattered Touton type of giant cells, patchy lymphocytic infiltrates and dense fibrosis. The patient is stable and is being followed-up. The presented ECD case is particularly interesting due to the recurrent bilateral facial masses. To the best of the authors' knowledge, this is the first documented case in Oman.

Congenital Posteromedial Bowing of the Tibia: A Conservative Casting and Bracing Approach.

Congenital posteromedial bowing of the tibia is a rare structural deformity of the lower extremity. This severe deformity may be discovered on ultrasound prenatally but is more commonly evident immediately after birth. Prognostically, congenital posteromedial bowing of the tibia ranges from a self-resolving condition to the development of a significant limb-length discrepancy with functional deficits. This condition can be treated conservatively but may require surgical correction in adolescence or at skeletal maturity. This case study presents a pediatric patient who underwent early conservative treatment with casting and bracing in a podiatric medical clinic setting.

Right lung hypoplasia associated with polysplenia: A case report and literature review.

Pulmonary agenesis is a very rare congenital abnormality that can be missed in a routine radiographic examination, which delays diagnosis until adulthood. It can be associated with other congenital malformations, such as valvular heart disease and gastrointestinal organ abnormalities. Computed tomography (CT) is a useful modality for its better delineation of pulmonary and vascular structures. The reported case here is for an adult male who presented with dextroposition of the heart and was found to have a unilobed right lung associated with polysplenia. This has not been previously reported in the literature.

Management of Progressive Unilateral Tibia Vara in a 3-Year-Old Child with Focal Fibrocartilaginous Defect: A Case Report.

CASE: A 3-year-old boy with unilateral tibia vara was diagnosed with focal fibrocartilaginous dysplasia (FFCD) of the left proximal tibia. Because of progressive deformity with intercondylar distance of 9 cm and tibia metaphyseal-diaphyseal angle of 28°, the child was treated with curettage of the lesion and lateral proximal tibia hemiepiphysiodesis with 8 plates. The deformity was corrected within 12 months, the implant was removed, and the child is being followed up till skeletal maturity. CONCLUSION: Curettage of the lesion and guided growth with an 8-plate is a viable treatment method for FFCD of the proximal tibia with progressive tibia vara deformity.

Colonoscopy diagnosis of recurrent abdominal pain in a 4-year-old boy with intestinal duplication cyst involving colon, appendix, and ileum: a case report.

BACKGROUND: Intestinal duplication cyst is an infrequent congenital malformation that can involve all the segments of the gastrointestinal tract. The cases of intestinal duplication cyst involving the colon, appendix, and ileum in children are particularly uncommon. The symptoms of abdominal pain are similar to other acute abdominal diseases in children, such as appendicitis, intussusception, and intestinal obstruction, so sometimes its diagnosis is challenging and leads to misdiagnosis. CASE PRESENTATION: We report a 4-year-old Asian boy who presented to the pediatric emergency department with abdominal pain and vomiting but no fever, peritonitis, or mass. No abdominal abnormality was found via radiology and ultrasonography. After 2 days' anti-inflammatory therapy, the patient was discharged with pain relief. A total of 9 months later, he was readmitted to the pediatric emergency department for the same complaint as the first admission. Abdominal physical examination and ultrasound examination were still negative. Barium examination found a large mass in the colon. Colonoscopy was performed before operation to confirm the rare co-cavity intestinal duplication cyst involving the colon, appendix, and ileum. After resection of intestinal duplication and ileocolonic anastomosis, the patient's abdominal pain and vomiting has not recurred for 5 years postoperatively. CONCLUSIONS: The diagnosis of intestinal duplication cyst in children is difficult, especially the rare co-cavity and long segmental intestinal duplication, which is easily misdiagnosed. Colonoscopy may be an effective auxiliary diagnostic method, especially for diseases that are difficult to diagnosed clinically, such as recurrent abdominal pain.

Successful Interventional Therapy for Portal Vein Stenosis after Ex Vivo Liver Resection and Autotransplantation in End-Stage Hepatic Alveolar Echinococcosis with Cavernous Transformation.

BACKGROUND End-stage hepatic alveolar echinococcosis (AE) can result in cavernous transformation of the portal vein (CTPV) due to extensive invasion of the portal vein. Ex vivo liver resection and autotransplantation (ELRA) is a new treatment option for patients with end-stage hepatic AE combined with CTPV. ELRA can achieve radical resection of HAE lesions and vascular reconstruction, and also effectively controls bleeding, particularly in cases involving multiple tortuous PV collaterals. Unfortunately, postoperative complications related to the portal vein can impede liver blood flow, thereby increasing the risk of portal hypertension and eventual failure of the transplanted liver if not promptly treated through appropriate medical interventions. CASE REPORT We report the case of a 31-year-old woman who underwent ELRA for end-stage hepatic AE combined with CTPV, and early postoperative portal vein anastomotic stenosis occurred. Stenting of the portal vein was performed after clarification of the stenotic segment by portal venography, followed by anticoagulation therapy and close ultrasound follow-up. After the operation, the patient's portal vein anastomosis widened and the blood flow into the liver returned to normal, avoiding graft liver failure. At 3-year follow-up, the portal vein stent was patent and no serious portal vein complications such as thrombosis had occurred. CONCLUSIONS ELRA provides a new therapeutic approach for patients with HAE combined with CTPV, and intraoperative portal vein reconstruction is one of the key procedures. For CTPV patients with early postoperative portal vein stenosis, interventional therapy (IVR) offers fresh perspectives and avoids acute liver failure caused by liver hypoperfusion.

External ear malformations and cardiac and renal anomalies: A systematic review and meta-analysis.

CONTEXT: External Ear Malformations (EEM) continue to be a common malformation seen in the pediatric patient population. This study aims to further elucidate the correlation between EEM and cardiac and renal anomalies. OBJECTIVE: A systematic review and meta-analysis to study the incidence of cardiac and renal anomalies associated with syndromic and isolated (EEM). DATA SOURCES: The literature search spanned multiple databases, including Google Scholar, PubMed, Scopus, Web of Science, and MEDLINE. STUDY SELECTION: Studies must be focused on EEM and cardiac and/or renal anomalies. Only articles written in English were included. DATA EXTRACTION: General study characteristics, number of EEM patients, number of cardiac and renal anomalies and whether cases were syndromic were extracted from the studies. RESULTS: Of 1,058 initial studies, 33 were included for meta-analyses. Mean JBI score for all included studies was 92.06%, indicating acceptable study quality. Interrater reliability was high, with a Cohen kappa score for all studies of 0.94. The resulting pooled prevalence of cardiac abnormalities was 20% [95% CI:13-28%], while renal abnormalities were 13% [95% CI: 7-20%]. The most common anomalies were VSD (3.725%) and renal agenesis (2.04%). The presence of syndrome data across studies was not a significant modifier of prevalence rates. LIMITATIONS: Primary limitation is due to heterogeneity in individual study methodology and reporting standards. CONCLUSIONS: These results highlight a higher prevalence of cardiac-related conditions than renal anomalies in patients with both syndromic and non-syndromic EEM in the included studies, underscoring the need for thorough clinical evaluations.

Pediatric coronary cameral fistula in a structurally normal heart: a case report and review of the literature.

INTRODUCTION: Coronary cameral fistulas (CCFs) are rare congenital anomalies characterized by abnormal connections between a coronary artery and one of the cardiac chambers. These abnormal connections can lead to significant clinical implications, including heart failure and myocardial ischemia, necessitating timely diagnosis and intervention. CASE PRESENTATION: A 5-year-old Iranian boy was brought to the emergency room at Heart Hospital Center complaining of chest pain and dyspnea on exertion. He had experienced similar episodes over the past 4 months, which had not been evaluated. Physical examination revealed stable vital signs and no remarkable findings. Transthoracic echocardiography demonstrated a dilated left coronary artery with a large aneurysm and a small orifice to the right ventricular body. The left ventricular ejection fraction was 55%. Cardiac computed tomography angiography confirmed the diagnosis. Cardiac angiography showed a dilated left coronary artery and a coronary cameral fistula to the right ventricular . The aneurysm was successfully occluded using two Amplatzer™ devices. CONCLUSION: This case underscores the critical role of multimodal imaging in diagnosing and managing coronary cameral fistulae. Early detection and appropriate intervention are paramount in preventing the progression of symptoms and potential complications such as heart failure and myocardial ischemia. The successful closure with Amplatzer™ devices highlights the efficacy of minimally invasive techniques in treating complex cardiovascular anomalies. Regular follow-up and careful monitoring are essential to ensure long-term success and to manage any potential recurrences. CLINICAL KEY MESSAGE: Timely identification and management of coronary cameral fistulae are crucial to prevent complications. Advances in imaging techniques and minimally invasive treatments, such as transcatheter closure, offer effective solutions. A multidisciplinary approach and regular follow-up are essential for comprehensive care and successful long-term management.

Anorectal Malformations (ARM) and associated maternal factors among children at Tikur Anbessa Specialized Hospital and St. Paul's Hospital Millennium Medical College, Addis Ababa, Ethiopia: An unmatched case-control study.

INTRODUCTION: Anorectal malformations (ARMs) are birth defects that affect the rectum, anus, and surrounding structures. While genetic and environmental factors may contribute to the risk of developing ARMs, the exact causes are largely unknown. Notably, there is a lack of research investigating predisposing factors for ARMs within the Ethiopian population, despite the burden of this condition in the country. OBJECTIVE: The research study aimed at to examine the maternal risk factors linked to the occurrence of anorectal abnormalities in children receiving treatment at designated public hospitals located in Addis Ababa, Ethiopia. METHODS: An unmatched case-control study was conducted at selected hospitals on mothers and their children between August 2022 and January 2023. The sample consisted of pediatric patients admitted to pediatric surgical units. Cases were diagnosed with ARMs, while controls had no congenital anomalies. Data was collected from the mothers of both cases and controls. The data was validated and then exported to SPSS version 26 for analysis. The analysis employed descriptive statistics and binary logistic regression. In a multivariable model, an adjusted odds ratio (AOR) together with a 95% confidence interval and p-value < 0.05 was used to determine significance. RESULT: This study included 68 ARM cases and 136 controls. Multivariable analysis found that a family history of birth defects (AOR = 6.15, 95% CI: 1.24-30.58), maternal alcohol use (AOR = 4.71, 95% CI: 1.71-12.00), first-trimester medication use (AOR = 4.86, 95% CI: 1.29-18.32), advanced maternal age (AOR = 4.22, 95% CI: 1.21-14.69), and unplanned pregnancy (AOR = 3.701, 95% CI: 1.551-8.828) were significant risk factors for ARM. CONCLUSION: The study found that key risk factors for ARM include family history of birth defects, maternal alcohol use, first-trimester medication use, advanced maternal age, and unplanned pregnancy. These findings underscore the importance of tailored prevention strategies and screening programs to address the genetic, maternal lifestyle, and maternal health factors that contribute to this congenital disorder.

Primary adrenal insufficiency with normal male external genitalia in a boy with CYP11A1 deficiency.

The first and rate-limiting step of steroid hormone biosynthesis is catalysed by mitochondrial cytochrome P450 side-chain cleavage enzyme (CYP11A1). CYP11A1 deficiency is commonly associated with adrenal insufficiency and, in 46 XY individuals, with variable degrees of differences in sex development (DSD). Here, we present a case report of a preadolescent male who presented to our emergency outpatient department in a state of decompensated shock necessitating ionotropic support. Further evaluation confirmed primary adrenal insufficiency. Subsequent clinical exome sequencing uncovered a compound heterozygous mutation in exons one and five of the CYP11A1 gene. This case highlights the varied presentation of CYP11A1 deficiency, showing that it can present as adrenal insufficiency without DSD.

The ICF2 gene Zbtb24 specifically regulates the differentiation of B1 cells via promoting heme synthesis.

BACKGROUND: Loss-of-function mutations of ZBTB24 cause immunodeficiency, centromeric instability, and facial anomalies syndrome 2 (ICF2). ICF2 is a rare autosomal recessive disorder with immunological defects in serum antibodies and circulating memory B cells, resulting in recurrent and sometimes fatal respiratory and gastrointestinal infections. The genotype-phenotype correlation in patients with ICF2 indicates an essential role of ZBTB24 in the terminal differentiation of B cells. METHODS: We used the clustered regularly interspaced short palindromic repeats (CRISPER)/Cas9 technology to generate B cell specific Zbtb24-deficient mice and verified the deletion specificity and efficiency by quantitative polymerase chain reaction (Q-PCR) and western blotting analyses in fluorescence-activated cell sorting (FACS)-sorted cells. The development, phenotype of B cells and in vivo responses to T cell dependent or independent antigens post immunization were analyzed by flow cytometry and enzyme-linked immunosorbent assay (ELISA). Adoptive transfer experiment in combination with in vitro cultures of FACS-purified B cells and RNA-Seq analysis were utilized to specifically determine the impact of Zbtb24 on B cell biology as well as the underlying mechanisms. RESULTS: Zbtb24 is dispensable for B cell development and maintenance in naive mice. Surprisingly, B cell specific deletion of Zbtb24 does not evidently compromise germinal center reactions and the resulting primary and secondary antibody responses induced by T cell dependent antigens (TD-Ags), but significantly inhibits T cell independent antigen-elicited antibody productions in vivo. At the cellular level, Zbtb24-deficiency specifically impedes the plasma cell differentiation of B1 cells without impairing their survival, activation and proliferation in vitro. Mechanistically, Zbtb24-ablation attenuates heme biosynthesis partially through mTORC1 in B1 cells, and addition of exogenous hemin abrogates the differentiation defects of Zbtb24-null B1 cells. CONCLUSIONS: Zbtb24 seems to regulate antibody responses against TD-Ags B cell extrinsically, but it specifically promotes the plasma cell differentiation of B1 cells via heme synthesis in mice. Our study also suggests that defected B1 functions contribute to recurrent infections in patients with ICF2.

Visualizing the invisible: aortopulmonary window diagnosis enhanced by 3D computer graphics.

An aortopulmonary window is a rare disorder that occurs in 0.1-0.2% of all congenital disorders. Our patient was a 1-month-old boy weighing 4180 g. The patient had heart failure associated with an aortopulmonary window. We used 3-dimensional computer graphic software (Viewtify, SCIENMENT) for diagnosis based on DICOM data from contrast-enhanced computed tomography. This made it easy to identify anatomical landmarks and findings and select the most suitable approach. We avoided stenosis of the right pulmonary artery and aorta. We encountered a case of an aortopulmonary window in which 3-dimensional computer graphic software was helpful in selecting the surgical technique. We report this case using 3-dimensional computer graphic images and present a review of the literature.

The Emerging Role of Artificial Intelligence and Automated Platforms for the Assessment of Penile Curvature: A Scoping Review.

PURPOSE OF THE REVIEW: The estimation of penile curvature is an essential component in the assessment of both Peyronie's disease and hypospadias-associated congenital penile curvature, as the degree of curvature can significantly impact treatment decision-making. However, there is a lack of standardization in curvature assessment and current methodologies are prone to inaccuracies. With the rise of artificial intelligence (AI) in urology, new research has explored its applications in penile curvature assessment. This review aims to evaluate the current uses of AI and other automated platforms for assessing penile curvature. RECENT FINDINGS: Several novel and promising tools have been developed to estimate penile curvature, some utilizing AI-driven models and others employing automated computational models. These platforms aim to improve curvature assessment in various settings, including at-home evaluation of Peyronie's disease, in-office assessments using three-dimensional (3D) methodologies, and preoperative evaluations for hypospadias repair. In general, these new platforms produce highly accurate and reproducible angle estimates in non-clinical studies, however their effectiveness and relation to patient outcomes has had limited evaluation in clinical settings. Significant advancements have been made in the assessment and estimation of penile curvature in both Peyronie's and pediatric patients, largely driven by AI and other automated platforms. Continued research is needed to validate these findings in clinical studies, confirm their efficacy, and assess their feasibility for real-world applications.

Molecular mechanisms for DNA methylation defects induced by ICF syndrome-linked mutations in DNMT3B.

DNA methyltransferase 3B (DNMT3B) plays a crucial role in DNA methylation during mammalian development. Mutations in DNMT3B are associated with human genetic diseases, particularly immunodeficiency, centromere instability, facial anomalies (ICF) syndrome. Although ICF syndrome-related missense mutations in the DNMT3B have been identified, their precise impact on protein structure and function remains inadequately explored. Here, we delve into the impact of four ICF syndrome-linked mutations situated in the DNMT3B dimeric interface (H814R, D817G, V818M, and R823G), revealing that each of these mutations compromises DNA-binding and methyltransferase activities to varying degrees. We further show that H814R, D817G, and V818M mutations severely disrupt the proper assembly of DNMT3B homodimer, whereas R823G does not. We also determined the first crystal structure of the methyltransferase domain of DNMT3B-DNMT3L tetrameric complex hosting the R823G mutation showing that the R823G mutant displays diminished hydrogen bonding interactions around T775, K777, G823, and Q827 in the protein-DNA interface, resulting in reduced DNA-binding affinity and a shift in sequence preference of +1 to +3 flanking positions. Altogether, our study uncovers a wide array of fundamental defects triggered by DNMT3B mutations, including the disassembly of DNMT3B dimers, reduced DNA-binding capacity, and alterations in flanking sequence preferences, leading to aberrant DNA hypomethylation and ICF syndrome.

Levels of B-ALP and TRAP-5b in a patient with short root anomaly: a case report.

The purpose of this study was to observe the changes in bone-specific alkaline phosphatase (B-ALP) and tartrate-resistant acid phosphatase-5b (TRAP-5b) in a patient diagnosed with short root anomaly (SRA). The detailed clinical data and history of related clinical symptoms of the SRA patient were retrieved. Oral examination showed that the shape and color of the tooth crown were normal. Tooth 11 and 12 were missing, and the mobility degree of other teeth was II-III. Panoramic radiograph examination showed that the root length only reached the neck of the tooth. Laboratory results showed that blood spectrum, chromosome and trace elements were normal. Endocrinological evaluation indicated that hormone levels were within normal limits; however, both B-ALP and TRAP-5b were higher than the normal range. The present case shows that SRA may be related to an imbalance in osteoblast/osteoclast metabolism, which provides a new direction for the etiological research of this disease.