Patterns of Growth of Tumors in Li-Fraumeni Syndrome by Imaging: A Case Series.

Although tumors of Li-Fraumeni syndrome (LFS) have a premalignant or dormant phase that could be exploited by early imaging detection, this has been underevaluated in the literature. We present a case series of patients with LFS followed by imaging over time to highlight patterns of growth of tumors and hotspots of missed tumors in this population. Clinical and imaging features were available for 29 tumors of 24 carriers of a germline TP53 pathogenic variant, developed between 1999 and 2023 were retrospectively reviewed in a single tertiary pediatric center. Imaging characteristics of tumors were evaluated with MRI, CT, and radiographs. Local invasion, time interval for developing primary cancer, and/or recurrent disease and metastasis, and factors that delayed the tumor diagnosis were assessed. In patients with multiple tumors the median time intervals for development of first, second, and third primary cancers were 45.9, 79.8, and 28.1 months, respectively. Hotspots of missed tumors included superficial soft tissues, areas close to bones, on the scalp, in tissues around the adrenal region and in small hypodense lesions on brain CT. In conclusion, the pattern of growth of tumors is variable and erratic in LFS patients with some tumors presenting with a dormant pattern.

Cross Attention Squeeze Excitation Network (CASE-Net) for Whole Body Fetal MRI Segmentation.

Segmentation of the fetus from 2-dimensional (2D) magnetic resonance imaging (MRI) can aid radiologists with clinical decision making for disease diagnosis. Machine learning can facilitate this process of automatic segmentation, making diagnosis more accurate and user independent. We propose a deep learning (DL) framework for 2D fetal MRI segmentation using a Cross Attention Squeeze Excitation Network (CASE-Net) for research and clinical applications. CASE-Net is an end-to-end segmentation architecture with relevant modules that are evidence based. The goal of CASE-Net is to emphasize localization of contextual information that is relevant in biomedical segmentation, by combining attention mechanisms with squeeze-and-excitation (SE) blocks. This is a retrospective study with 34 patients. Our experiments have shown that our proposed CASE-Net achieved the highest segmentation Dice score of 87.36%, outperforming other competitive segmentation architectures.

Neurovascular Manifestations in Pediatric Patients With Hereditary Haemorrhagic Telangiectasia.

BACKGROUND: Hereditary hemorrhagic telangiectasia (HHT) is a multiorgan vascular dysplasia with limited data regarding its neurovascular manifestations and genotype-phenotype correlation in children. The objective of this study was to describe the neurovascular findings in a large cohort of children with HHT and correlate between phenotype and genotype. METHODS: This retrospective study was conducted on 221 children (<18 years) with a definite or possible diagnosis of HHT based on Curacao criteria, or with positive genetics for the mutated genes of ENG, ACVRL-1, and SMAD-4, who also underwent brain MRI and/or conventional angiography. Demographic and clinical information, imaging findings, and follow up information were gathered. RESULTS: Two hundred twenty-one children with HHT (70.6% genetically confirmed, and 99.5% positive family history) were included, with a median age of 7 years (interquartile range: 3 to 11 years) and 58.8% male predominance. Neurovascular lesions were found in 64 of 221 (28.9%), with 3.1% prevalence of intracranial hemorrhage. The most commonly observed vascular malformations were developmental venous anomalies (48.5%) and brain arteriovenous malformations (AVMs) (31.2%), followed by capillary malformations (14.1%). Multiple AVMs were seen in 10.0% of the cohort. We found no instances of de novo AVM (1281.8 patient-years).A significantly higher proportion of patients with ENG mutations (19.7%) had brain AVM than those with ACVRL-1 (4.9%) and SMAD-4 (0%) mutations (P < 0.01). There was no significant difference in the hemorrhagic risk of shunting lesions associated with ENG (35.3%) or ACVRL-1 (33.3%) positivity (P = 0.9). CONCLUSIONS: We describe the neurovascular imaging and genetic findings from a large pediatric cohort of HHT, to enhance clinical awareness and guide management of patients with HHT.

Five-day fever: The main presentation of childhood-onset Takayasu arteritis.

In children with a nonspecific constitutional presentation such as prolonged fever, the physician should pay attention to primary vasculitides after ruling out the more common diseases such as infectious diseases, malignancies, and the other rheumatic disorders. The past history of autoimmunity may be a clue for this.

Enterobacter Meningitis Due To Dermoid Cyst Manipulation.

Gram-negative meningitis can occurssubsequent to dura-arachnoid barrier disruption because of trauma, surgery and rarely an infected dermoid cyst. Association of neurosurgical procedures with Gram-negative meningitis was described for the first time in 1940. Intracranial infections from gram-negative bacilli like Enterobacter are serious and difficult to treat as many antibiotics fail to achieve bactericidal concentrations in the cerebrospinal fluid. Here in, we report a rare case of pediatric Enterobacter meningitis in a patient with a dermoid cyst that had been manipulated. She was managed with antibiotic therapy plus surgical removal of the infected cyst.

Severe Combined Immunodeficiency: A Case Series and Review from a Tertiary Pediatric Hospital.

Severe combined immunodeficiency syndrome (SCID) is a life-threatening condition leading to early infant death as a result of severe infection, due to impaired cellular and humoral immune systems. Various forms of SCID are classified based on the presence or absence of T cells, B cells and natural killer cells. Patients usually present with recurrent infections and failure to thrive. Definitive treatment is hematopoietic stem cell transplantation. To achieve the best outcome, it should be performed prior to the development of severe infection. In This study, we described 10 patients (6 male and 4 female) with SCID who were admitted to Mofid Children Hospital, Tehran, Iran, from 2006 to 2013. We reviewed patients' clinical manifestation, laboratory data, family history and outcome. The mean age at the time of diagnosis was 131.8 days. One patient had non-consanguineous parents. Seven patients received BCG vaccine before the diagnosis of SCID, three of them showed disseminated BCG infection. One patient presented with invasive pulmonary aspergillosis. Flow cytometric analysis showed T⁻B⁺NK⁻ in three patients, T⁻B⁻NK⁺ in five patients, T⁻B⁻NK⁻ in one patient, and T⁻B⁺NK⁺ in one patient. This study highlights the importance of early diagnosis and patient referral before the occurrence of serious infection.

Usefulness of Ultrasound View of Larynx in Pre-Anesthetic Airway Assessment: A Comparison With Cormack-Lehane Classification During Direct Laryngoscopy.

BACKGROUND: One of the main challenges in anesthesiology is difficult intubation. There are many anatomical parameters for evaluating the feasibility of tracheal intubation; one that can reliably predict a difficult intubation is the Cormack-Lehane classification obtained during direct laryngoscopy. This is an invasive procedure that cannot be performed in an awake patient or for pre-anesthetic airway assessments in patients with no prior history of tracheal intubation. Recently, ultrasound has been successfully used for several airway-related applications. OBJECTIVES: The aim of this study was to compare and correlate the ultrasound view of the larynx with the Mallampati classification before anesthesia and the Cormack-Lehane classification during direct laryngoscopy under general anesthesia. METHODS: This cross-sectional descriptive-analytic study included 53 ASA class I - III patients aged 18 - 70 years who were scheduled for tracheal intubation under general anesthesia. Before anesthesia, an oblique transverse ultrasound view of the airway was obtained; in addition, the total time taken to achieve the final plane, the depth of the pre-epiglottic space, and the distance from the epiglottis to the mid-point between the vocal cords were all recorded. The ultrasound measurements were then compared with the Mallampati class on the preoperative evaluation and with the Cormack-Lehane grade during direct laryngoscopy under general anesthesia. RESULTS: It was observed that correlations between the pre-epiglottic space (PE) and Cormack-Lehane grades I, II, and III were weak. Correlations between the distance from the epiglottis to the vocal cords (E-VC) and Cormack-Lehane grades I, II, and III were also weak. The PE/E-VC ratio for correlations between the sonographic view and laryngoscopy had 87.5% sensitivity and 30% specificity. There was no correlation between Mallampati class and the PE/E-VC ratio (P = 0.566). CONCLUSIONS: Our study revealed weak correlation between PE/E-VC and Cormack-Lehane grade, with 87% sensitivity and 30% specificity. Therefore, we concluded that sonographic measurement criteria are not accurate in airway evaluations before anesthesia.

Systolic Compression of a Myocardial Bridged Coronary Artery and its Morphologic Characteristics: A Combination Study of Computed Tomography Angiography and Invasive Angiography.

BACKGROUND: Myocardial bridging (MB) is a congenital anomaly in which a segment of a major epicardial coronary artery courses through the myocardium. This anomaly can lead to myocardial ischemia, arrhythmia, and even death. The effectiveness of coronary computed tomographic angiography (CCTA) in the detection of MB and its morphological features, and the accuracy of invasive coronary angiography (ICA) in the evaluation of systolic compression have been shown in some prior studies. OBJECTIVES: The present study aimed to evaluate the correlation between the depth and the length of MB as determined using CCTA, and the degree of luminal narrowing of the involved tunneled segment as calculated using the ICA. PATIENTS AND METHODS: For this study, 109 consecutive patients diagnosed with myocardial bridging using CCTA, and who had already undergone ICA, were studied. The depth and length of the MB was determined in the CCTA, while the degree of systolic compression was calculated in the ICA. The correlation between the depth and length of the MB and the systolic compression were then evaluated. RESULTS: The degree of systolic compression was found to be correlated with the depth of the MB. However, there was no correlation between the length of the MB and the degree of systolic compression. CONCLUSION: The systolic compression of the MB was influenced by the depth of the tunneled segment, not by its length.

Congenital Pleomorphic Adenoma in a SubmandibularGland of a Newborn- A Case Report.

INTRODUCTION: Pleomorphic adenoma is a rare benign salivary gland neoplasm in children, which can be treated by simple excision. This tumor is rarely included in the differential diagnosis of solid submandibular masses in children. In the neonates, congenital pleomorphic adenoma usually presents in the nasopharynx. Surgical excision is the treatment of choice and recurrence is not expected. We report what appears to be the first case of congenital pleomorphic adenoma in the submandibular region in a one-day-old newborn. CASE REPORT: The case of a one-day-old term baby is presented with a 5x2 cm left submandibualr mass with extension to the oral cavity. The mass was hard and non-mobile. During Ultrasonography and Contrast-enhanced Computed Tomography (CT) scan, the mass was solid with a heterogeneous internal structure. The tumor was completely excised and proved to be a pleomorphic adenoma during histopathological examination. CONCLUSION: Congenital pleomorphic adenoma rarely occurs in the nasopharynx and is treated by surgical excision. Our case is unique because the congenital pleomorphic adenoma is located in the submandibular gland of a newborn.

Multifocal kaposiform hemangioendothelioma of soft tissue with bilateral pulmonary involvement in an adolescent.

Kaposiform hemangioendothelioma (KHE) is a rare, locally aggressive vascular tumor of intermediate malignancy with resemblance to Kaposi sarcoma. It occurs predominantly in pediatric age groups as a cutaneous lesion with focal infiltration into the adjacent soft tissue and bone. Although visceral involvement is very uncommon, several cases with bone, retroperitoneal, or mediastinal involvement have been described. KHE has been reported to occasionally occur in unusual sites such as the thymus, tonsils, larynx, paranasal sinuses, deltoid muscle, spleen, uterine cervix, thoracic spine, and even the breast. Multifocal KHE is an extremely rare entity with few reports available in the literature, none of which describes pulmonary involvement. Herein, we report a unique case of multifocal KHE in a 13-year-old boy presenting with a huge soft tissue mass in the upper extremity complicated by bilateral pulmonary nodules that developed into large, necrotic tumor masses.

Massive ascites as the only sign of ovarian juvenile granulosa cell tumor in an adolescent: a case report and a review of the literature.

Ovarian neoplasms are relatively rare in childhood and adolescence; only 5% to 8% of the cases are of sex cord stromal origin. Granulosa cell tumors are a group of estrogen producing sex cord stromal tumors of the ovary. They occur in 95% of the cases in adults, and only about 5% of the cases, which differ in histologic characteristics, are of juvenile type. A 13-year-old girl is reported who presented with massive abdominal distention and ascites. An abdominopelvic computed tomography scan showed a predominantly cystic mass lesion with septations arising from the left ovary. All tumor markers were normal, but serum inhibin level was increased. The patient underwent mass resection with salpingoophorectomy. Histopathology was compatible with the juvenile granulosa cell tumor. Interestingly, menarche was started in the patient soon after the surgery. To the best of our knowledge, massive ascites as the only clinical manifestation in the juvenile granulosa cell tumor has not reported as yet.

Haemorrhagic cystitis due to BK virus in a child with ALL on standard chemotherapy without stem cell transplant.

The BK virus (BKV) is a nonenveloped double-stranded DNA virus of the polyomavirus family that primarily affects immunocompromised people. BKV infects humans at an early age. Initial infections with BKV are mainly asymptomatic and usually remain latent in the brain, peripheral blood, kidneys, and urothelium. Following the primary infection, viruses persist indefinitely as 'latent' infections of the kidney and urinary system because the virus is urotheliotropic. Reactivation of the virus infections occurs in individuals with severe immunosuppression states such as kidney and stem cell transplantation and rarely in pregnancy. In this line, BKV has been implicated as a common cause of late-onset haemorrhagic cystitis (HC) in patients who have undergone stem cell transplantation. In contrast, reports of BKV-associated diseases in nontransplant paediatric patients are almost exclusively in patients with human immunodeficiency virus infection. Herein, we report the first case of a child with acute lymphoblastic leukaemia who developed BKV-associated HC without receiving stem cell transplantation while on standard maintenance chemotherapy.

Primary intrarenal neuroblastoma with hypertension and disseminated intravascular coagulation.

The primary intrarenal neuroblastoma (IRNB) is a rare condition. Intrarenal neuroblastoma typically results from direct renal invasion from an adrenal neuroblastoma, but true intrarenal neuroblastoma originates either sequestered adrenal rests during the fetal life or intrarenal sympathetic ganglia. Clinical, radiological, and pathological correlation is very essential for diagnosis and appropriate management of this type of unusual cases. The distinction of this rare tumor from Wilms' tumor is an important challenge since both tumors have major differences in prognostic and therapeutic response. We present a 3-year-old boy of primary intrarenal neuroblastoma with extensive abdominal and mediastinal mass, persistent hypertension, and disseminated intravascular coagulation (DIC).