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Abstract Background There is no consensus on the initial treatment modality for unilateral Wilms tumor (WT) in Egypt. This multicenter study investigates the factors guiding the decision-making between primary surgery and delayed resection for this tumor in our clinical practice. A retrospective analysis was conducted on all patients with unilateral, non-metastatic WT treated at four major Egyptian institutions from January 2019 to January 2024. Clinical characteristics, management details, and outcomes were reviewed. Timing of nephrectomy was analyzed in relation to tumor characteristics such as size, midline crossing, suspicion of perinephric spread, intravascular extension, and retroperitoneal lymphadenopathy. Results The study included 112 patients with a median age of 2.8 years. The median largest tumor diameter was 12 cm (range, 7–16 cm). Primary nephrectomy was performed in 62 patients (55.4%), while 50 (44.6%) underwent delayed resection after biopsy and neoadjuvant chemotherapy. Tumors larger than 12 cm and tumors crossing the midline were reported in 38.5% and 35% of all patients, respectively. Suspicion of perinephric spread was noted in 31% of patients, and significant lymphadenopathy in 13.5%. Intravascular tumor thrombus was detected in 7 patients (6.25%) at various locations. Statistically significant differences were observed between the primary surgery and delayed resection groups regarding suspicion of perinephric spread, intravascular thrombus, and retroperitoneal lymphadenopathy (p-value

Abstract Purpose To share our experience in the management of a specific type of mild anorectal anomaly presenting with severe constipation. Methods Data of patients with idiopathic constipation who were referred to our pediatric surgical facility during the period from 2013 to 2023 were retrospectively analyzed. The study included patients with significant symptoms of constipation associated with a minor degree of unrecognized anterior anal misplacement. MRI was ordered in most cases to confirm the presence of deeper structural abnormalities. Results Data from 16 cases were available for retrospective analysis. All included cases underwent posterior anoplasty with posterior sphincterotomy. Postoperative recovery was uneventful in all cases with no wound complications. Almost all cases reported obvious improvement of symptoms regarding frequency of defecation and relief of straining which was the most distressing preoperative complaint. After 1 month, 12 cases were off laxatives with regular defecation; 3 cases still required lower doses of laxatives. Only one case reported unsatisfactory response up to 3 months postoperatively, and unfortunately was lost to follow-up. Five cases responded to messages sent to them through registered phone numbers and were available for longer-term follow-up. Conclusion Mild unrecognized forms of anorectal anomalies may present with idiopathic constipation. Severe straining at defecation is an important clue. The subtle abnormality on perineal examination can be supported by pelvic MRI unveiling more structural abnormalities at a deeper level. Posterior anoplasty offered relief of symptoms in most cases.

Abstract Purpose To share our experience in the management of a specific type of vascular malformations (lymphatic) at a specialized multidisciplinary clinic for vascular anomalies. Methods Data of patients attending the vascular anomaly clinic during the period 2015 through 2023 were retrospectively analyzed. The study included cases diagnosed primarily as lymphatic malformations (LMs). We excluded cases associated with complex/syndromic vascular malformations. Available data included regional distribution of the LMs, age at presentation, sex, imaging studies, and different modes of treatment. Results The study included 131 cases of LMs whose data were available for retrospective analysis. Generally, LMs had a benign course with good prognosis apart from two recorded mortalities (1.5%) during the 9-year period of the study. In this series, 93 cases were managed by injection sclerotherapy (Bleomycin). About 57 cases showed satisfactory response to injection sclerotherapy alone without the need to add other treatment modalities. Forty cases underwent surgical excision/debulking. Postoperative wound complications were recorded in 5 cases (12.5%). Sirolimus was offered for patients with LMs after the failure of conventional treatment (injection/surgery) to control associated significant complications. Conclusion Lymphatic malformations represent a common presentation at the vascular anomaly clinic, which usually have a benign course. Complications are mainly cosmetic especially when involving the face, and sometimes superadded infections may occur. Airway compromise is a potential serious complication with submandibular lymphatic malformations in the neck.

We present a simple surgical technique aiming to improve urine outflow through the common urogenital sinus in cloaca and facilitate drainage of existing hydrocolpos. The study included three cases of cloaca with associated hydrocolpos that were operated during the period 2022 through 2023. The patient is placed in the prone position for a standard posterior sagittal anorectoplasty. The distal rectal fistula is severed flush with the vagina/sinus leaving an open defect in the posterior wall of the vagina/sinus. The defect is then widened distally via a vertical incision (∼1 cm) through the posterior wall of the common urogenital sinus toward but not reaching the perineum. This vertical defect is then closed horizontally displacing the posterior vaginal wall downwards toward the perineum (posterior sinuplasty). The postoperative recovery was uneventful in the three cases. Adequate drainage of hydrocolpos was confirmed by imaging at follow-up, as well as improvement of upper urinary tract dilatation. In selected cases of cloaca, posterior sinuplasty is a simple procedure that can be applied during anorectoplasty to provide effective drainage of associated hydrocolpos.

Abstract Background Y-type urethral duplication is a term frequently used to describe a rare condition in the male associated with double urinary stream: a weak interrupted urinary stream through a hypoplastic penile urethra, while the main urine flow is through the anus/perineum via accessory posterior channel. Fortunately, the advent of MRI has provided a powerful tool to study these anomalies in depth and on multiple planes. The study included boys presenting with abnormal micturition through the anus beside weak interrupted urine stream through the penis. Investigations included pelviabdominal ultrasound to screen for possible associated upper urinary tract anomalies, conventional contrast X-ray studies, and pelvic MRI. Results During the period between 2016 through 2021, the study included two newly diagnosed cases with abnormal communication between the lower urinary tract and the anus (the so-called Y-type urethral duplication), in addition to one previously reported case whose preoperative imaging studies (including pelvic MRI) were available for analysis. Different surgical solutions have been applied for each case. Hypoplasia was not only restricted to the penile urethra but also affected the corporeal bodies of the penis with variable degrees. In two cases, only a single corporeal body could be identified. In another case, the three corporeal bodies were present but appeared distorted (irregularities and interruption of corporeal bodies). Conclusion In our present study, pelvic MRI examination clearly unveiled significant degrees of corporeal dysgenesis among cases diagnosed as Y-type urethral duplication that would strongly suggest these cases to belong to the same disease spectrum of penile dysgenesis/agenesis.

Abstract Background Despite the high-frequency rate of cerebrospinal fluid shunt malfunction, radiological evaluation of CSF shunts has remained deficient, focusing mainly on demonstrating secondary signs of shunt failure rather than evaluating the shunt tube itself. We aimed to study the utility of different MR pulse sequences in evaluating the cranial and abdominal ends of CSF shunts in order to identify the potential cause of shunt failure and its impact on patient management. Results Twenty-five patients (18 males, 7 females, median age 2.5 years, IQR 0.75–15) were enrolled in the study, having 28 ventriculo-peritoneal shunts and single ventriculo-gallbladder shunt. The catheter lumen and fine intraventricular septae were only demonstrated in 3D-DRIVE sequences (p

Abstract Background All pediatric health organizations are concerned about the impact of coronavirus disease on children, especially on those with other comorbidities; fortunately, pediatric cases appear to be less severe than in adults (De Luca et al. in Pediatr Respir Rev 5:9–14, 2020). The purpose of this study is to characterize chest CT findings of children with and without comorbidities who had confirmed coronavirus disease (COVID-19) and to investigate the relation between chest CT findings and the clinical severity of COVID-19 pneumonia and their laboratory findings. Results The study was conducted on 36 patients, 72.2% of whom had associated comorbidities. Twenty-three patients (63.88%) had abnormal CT findings. Consolidative patches were the most common radiological sign (55.6%) followed by ground glass opacities (50%). The lesions were bilateral (58.3%), having predominantly peripheral distribution (38.9%) with predominant left lower lobe affection (25%). Cases with clinically severe chest conditions had significantly more prevalent consolidative patches (p = 0.026) which show a higher CT density (p = 0.01) and a significantly higher CT severity score (SS) compared to other groups (p = 0.029). The cutoff of severity score 4/20 had 100% sensitivity and 78.12% specificity in the diagnosis of severe cases. There were no statistically significant differences between patients with or without comorbidities regarding CT-SS or any radiological signs. Conclusions Consolidation was the most common radiological finding in children with COVID-19 and was more prevalent and denser in severe cases. The CT-SS may be used as a complementary tool for the evaluation of the severity of the chest condition. Chest CT-SS more than 4 can be used as an indicator of severe cases, yet no significant difference in CT-SS between patients with associated comorbidities or not.

Abstract Background Universally maximum standardized uptake value (SUVmax) and lactate dehydrogenase (LDH) are used as tools for response assessment in Hodgkin Lymphoma (HL) patients. Our objectives are to evaluate the predictive potential and response assessment of total lesion glycolysis (TLG) and metabolic tumor volume (MTV)—maximum three target lesions—as another alternatives and to investigate the correlation between TLG and MTV with LDH. Results Both initial SUVmax and TLG were significantly associated with early patient response (p value 0.03, 0.047, respectively). An optimal threshold for SUVmax and TLG less than or equal 19.52, and 158.6, respectively, correlated with better therapeutic response. Initial LDH was moderately correlated with initial values of TLG (r s = 0.4, p value 0.01), MTV (r s = 0.44, p value 0.01) and SUVmax (r s = 0.42, p value 0.01). Conclusion TLG in correlation with LDH can be significant prognostic factors of therapeutic response in HL. They can be used for the identification of a subset of HL patients with a better outcome.

Abstract Background Congenital heart disease (CHD) is the most common neonatal anomaly. Extracardiac findings are commonly associated with CHD. It is mandatory to evaluate extracardiac structures for potential associated abnormalities that might impact the surgical planning for these patients. The purpose of this study was to determine the extracardiac abnormalities that could associate cardiac anomalies and to give insights into their embryological aberrations. Results Thirty-two pediatric patients (22 males and 10 females) underwent CT angiography to assess CHD. Diagnosis of the CHD and associated extracardiac findings were recorded and tabulated by organ system and type of CHD. Retrospective ECG-gated low-peak kilovoltage (80Kvp) technique was used on 128MDCT GE machine. Patients were diagnosed according to their CHD into four groups: chamber anomalies 90%, septal anomalies 81.3%, conotruncal anomalies 59.4%, and valvular anomalies 59.4%. Extracardiac findings were found in 28 patients (87.5%) with a total of 76 findings. Vascular findings were the most prevalent as 50 vascular findings were observed in 28 patients. Aortic anomalies were the commonest vascular anomalies. Fourteen thoracic findings were observed in 12 patients; of them lung consolidation patches were the most common and 12 abdominal findings were found in seven patients, most of findings were related to situs abnormalities. Conclusion Extracardiac abnormalities especially vascular anomalies are commonly associating CHD. Along with genetic basis, aberrations in dynamics of blood flow could represent possible causes of this association.

Abstract Background Children are frequently referred to the pediatric radiology department due to complaints related to the urinary tract. Main body We aimed to describe common clinical scenarios in paediatric urology practice and their recommended imaging diagnostic algorithms. Practical imaging approach to following common clinical scenarios and the common radiological findings are discussed: (A) perinatal urinary tract dilatation and other congenital anomalies; (B) recurrent urinary tract infection; (C) enuresis and daytime urinary incontinence; (D) abdominal masses; (E) flank pain; (F) hematuria; (G) trauma; (H) nonpalpable testis, ambiguous genitalia and common urogenital sinus anomalies; and I) renovascular hypertension Conclusions Imaging investigations should be tailored according to the clinical presentation in a stepwise approach aiming for optimum patients’ care.

Abstract Background Redo surgery for anorectal anomalies (ARA) may be considered a special category of reconstructive surgery with less predictable outcomes. In this report, we studied anatomical derangements in a group of boys following a previously complicated PSARP procedure, in addition to the effect of reoperation on rectifying this distorted anatomy. Results The study included 27 boys who were re-operated after a previous complicated PSARP. Included cases were divided into two groups: group A (14 cases) was referred before colostomy closure with an obviously complicated primary operation, and group B (13 cases) was referred with delayed complications after colostomy closure. Pelvic MRI examinations were performed before reoperation in 19 cases. In nine of these cases, a repeat MRI examination was performed at follow-up after reoperation to study the effect of redo surgery on rectifying the distorted anatomy. Abnormal wide anorectal angle and wide pelvic hiatus were common anatomical derangements after a previously complicated PSARP. An important goal of reoperation was reconstruction of the levator ani behind the anorectum trying to create a more acute anorectal angle and a narrower pelvic hiatus. The success of this corrective step was evaluated by MRI comparing pre- and postoperative measurements that showed a favourable decrease in the values of anorectal angle and hiatal/PC ratio. Improvement of faecal continence was documented after reoperation in 8 out of 10 cases in group B. Conclusion A wide pelvic hiatus was a frequently encountered postsurgical complication after failed PSARP that has most probably resulted from poor reconstruction of the pelvic floor at time of the primary repair. Re-approximation of the split halves of levator ani in the midline behind the anorectum at reoperation can help to correct the distorted internal anatomy and improve bowel control in these cases.

Abstract Background Infantile haemangiomas (IH) represent a common benign vascular tumour affecting the paediatric population. Infantile haemangiomas are characterised by a natural history differentiating it from other vascular anomalies. After a transient proliferative phase in early infancy, the tumour passes through a plateau phase before going into spontaneous involution. In this report, we tried to share our experience over the last 5 years in managing cases presenting with IH at a specialised vascular anomaly clinic. Main body of abstract This report included cases of IH who were attending the vascular anomaly clinic during the period 2015 through 2019. Data of all patients attending the clinic were retrospectively examined. Files of 103 cases with IH were available for review. The diagnosis of IH was usually straight forward owing to the typical history and characteristic findings at clinical examination. A significant female predominance was noticed. Generally, IH were more common in the head and neck region (70%). Active intervention was necessary in specific situations (eye occlusion, airway involvement, large lesions with skin ulcerations). Whenever intervention proved to be necessary, propranolol was chosen as the first line of treatment with a favourable response detected in about 90% of cases. Surgery was still a valid option (6%) for lesions amenable to resection; however, we must put in consideration that most lesions will spontaneously regress. Conclusion Infantile haemangiomas are common benign vascular tumours of infancy with relatively few complications. Cosmesis is a major concern especially for lesions affecting the face. Propranolol can induce tumour regression in most cases, and generally, a favourable outcome can be anticipated.

Abstract Background Mammographic focal asymmetry represents normal breast tissue, benign, or malignant lesions. Accurate characterization is important for better management. The study evaluates diagnostic accuracy of contrast-enhanced digital mammography (CEDM) for characterization of focal asymmetries seen in 2D mammography. Results The study was done prospectively on 38 females among 360 patients who underwent baseline sonomammographic assessment for diagnostic and screening purposes. Complementary ultrasound was performed only when a finding was detected in cases of screening mammograms. Focal asymmetries were evaluated according to Breast Imaging Reporting and Data System (BI-RADS) lexicon 2013. CEDM was performed and followed by ultrasound (US) guided core biopsy for solid lesions or aspiration for cystic lesions. CEDM processing resulted in recombined image showing enhancing abnormality. Low energy image and recombined image findings were analyzed blindly and classified into focus enhancement, mass enhancement, non-mass enhancement, and non-enhanced lesions. CEDM and sonomammography findings were compared regarding pathological probability and multiplicity. Histopathology was the reference standard. Mass enhancement showed strong correlation with malignant pathology. Non-mass enhancement showed no correlation with particular pathology. All non-enhanced focal asymmetries were benign in pathology or normal tissue. Rim enhancement needed second look ultrasound evaluation. CEDM was superior to sonomammography with higher sensitivity (77.8%, 65.7% respectively), NPV (0.8, 0.6), accuracy (0.6, 0.2) but lower specificity (81.8% vs. 100%). Multiplicity detection by CEDM was 26.3% and by sonomammography was 10.5%. Conclusion CEDM is more accurate than sonomammography in determination of normal tissue, benign, or malignant lesions in cases of mammographic focal asymmetry. CEDM is more accurate in detection of multiplicity. Undesired biopsies were avoidable with proper management of suspicious and malignant lesions.

Abstract Background Upper gastrointestinal (UGI) series is the standard imaging tool for diagnosis of structural and functional abnormalities affecting the esophagus, stomach, and proximal small bowel. The aim of this study was to delineate the clinical indications for UGI series in children that are associated with the presence of significant radiological abnormalities aiming for more standardized care for those patients. Results UGI series of 118 patients was analyzed with calculation of clinical score. Vomiting was the most frequent primary complaint (63.6%), followed by dysphagia and recurrent chest infection. Forty-nine patients had positive upper GI findings (42%). The most detected abnormality was related to the stomach and duodenum (21.4%). Variable degrees of idiopathic gastroesophageal reflux were detected in 16 patients (13.6%). Patients with clinical score 2 or more had significantly more prevalence of abnormal findings (p = .001). Vomiting (especially when bilious), underweight, aspiration, and recurrent chest infection were strong predictors of abnormal findings on upper GI series (p = 0.007, 0.001, 0.009, and 0.001, respectively) and increased the diagnostic yield of upper GI series for detection of abnormalities by 3.48, 9.6, 4, and 4.12 times, respectively. Conclusion Diagnostic yield of UGI series was relatively higher in patients having two or more symptoms (clinical score 2 or more) and in children with bilious vomiting, aspiration and underweight, or repeated chest infection.

Abstract Background Classifying anorectal anomalies (ARA) has always been a matter of debate among pediatric surgeons. A new classification does not necessarily imply discarding older ones. Several concepts have been introduced in the past and stood the test of time being still valid up till now In this report, we present our experience in managing a group of boys with ARA by PSARP. We have tried to enhance the current classification to include information about the level of the rectum in relation to sacrum, not just the location of the fistula. Results The study included 62 consecutive male patients with anorectal anomalies who underwent PSARP between 2009 and 2019. Included cases were either recto-bulbar fistula (21 cases), recto-prostatic fistula (30 cases), or imperforate anus without fistula (11 cases). Their age at operation ranged from 3 to 36 months (mean 7.8 months). Cases with recto-prostatic fistula were further subclassified according to the level of distal rectum into two subgroups: (type 1) those with the rectum ending opposite the level of S4/S5, and (type 2) those with the rectum ending at a higher level opposite S3. The PSARP procedure proved to be a successful surgical approach to reach, separate, and mobilize the rectum in all cases of recto-bulbar fistula, imperforate anus without fistula, and recto-prostatic fistula type (1). In cases of recto-prostatic fistula type (2), the perineal approach (PSARP) failed to reach and mobilize the rectum in two out of the eleven cases. Conclusion In management of anorectal anomalies, the sacrum can provide two important indicators: a prognostic value for continence, and anatomical landmark to stratify the level of distal rectum in the pelvis which is crucial for planning the best surgical approach.

Abstract Background The current COVID-19 pandemic has resulted in marked and rapid changes to the standing policies of radiology departments globally. The aim of this review article is to describe the various processes implemented by a radiology department in an educational institution in a resource limited country during the COVID-19 crisis, giving insights into the adopted strategies in other institutions in developed countries. Main body Our preparedness strategy was directed into five main domains: protection and wellness of radiology faculty and staff, radiological examinations and patients’ safety, education, research, and financial support. By implementing new strategies, we found that work reorganization through the use of home PACS provided safe and effective reporting service, low infection rate with zero mortality, and online lectures and theses defense were successful. Furthermore, governmental support and donations were helpful in facing financial challenges during the pandemic. A comprehensive literature review search for policies adopted by other radiology departments in the world was performed. The adopted strategies of various centers are generally similar to ours aiming for mitigating the spread of the virus, keeping good patients’ care, and maintaining the educational process. Few policy differences across institutions were found in the reporting strategy of COVID-19 pneumonia and according to the availability of resources. Conclusion Covid-19 pandemic has opened the door for changes in the radiology department policies with renewed focus on educational, clinical, and scientific strategies. Documentation of the dynamic modifications of everyday practices and lessons learned are important as a reference for preparedness for possible second surge or future crisis.

Abstract Background Although upper gastrointestinal series (UGI) series are frequently requested in pediatric radiology department, there are few articles investigating its value in children with vomiting. The purpose of this study was to review imaging findings perceived during UGI series in infants and children presented with vomiting in correlation to their symptoms based on the ACR appropriateness criteria. This was to identify clinical scenarios with higher diagnostic yield. Results A cross-sectional study including UGI series of 76 patients presented with vomiting (1 month–17 years) was performed. Patients were grouped according to their age into 5 groups and stratified according to the type of vomiting into 3 groups (bilious vomiting, new-onset nonbilious vomiting, intermittent nonbilious vomiting since birth). Associated symptoms were described with calculation of a novel clinical score. Radiological abnormalities in different age groups were described in relation to the type of vomiting. All patients with bilious vomiting or nonbilious vomiting associated with melena or dysphagia had abnormal findings. Gastroesophageal reflux was detected in 25% of cases. Patients with normal and abnormal study were compared according to their clinical score. The clinical score was significantly higher in the group of patients with abnormal findings (p < .001). Patients with recurrent chest symptoms and loss of weight had significantly higher rate of abnormal findings. Conclusion UGI series had a higher diagnostic yield in patients with bilious vomiting, children with nonbilious vomiting with higher clinical scores when associated with recurrent chest symptoms, loss of weight, dysphagia, or GIT bleeding especially melena.

Objectives. This study was carried out to delineate the patients’ characteristics and the imaging findings and their relation to some biochemical markers of 31 critically ill patients with MIS-C. Design. A retrospective cross-sectional study including all critically ill MIS-C patients admitted to the PICU from June 23rd to July 22nd, 2020. Results. Eighteen males and 13 females, with a median age of 9 years (interquartile range 6-11) presented mainly with fever (100%) and hypotension (100%). Abnormalities in the chest computed tomography were detected in 22 cases (71%). Consolidation and architecture distortion were detected in 58.1% of patients; bilateral lesions and lower lobe infiltrates, each, was evident in 64.5% of patients, while the peripheral distribution of lesions was seen in 71% of the cases. Pleural thickening and effusion, each, was found in 51.6% of the patients. In this small case series, the presence of high ferritin was significantly associated with the bilaterality of the lesions. Elevated C-reactive protein was associated with the peripheral distribution of the lesions. Thrombocytopenia and hypoalbuminemia were significantly correlated with the CT disease stage and CT severity score respectively. Conclusions. Although a few children in this group of MIS-C patients presented with respiratory manifestations, yet, most of them demonstrated significant radiological lung involvement, which necessitates a longer-term follow-up.

Sirolimus use in vascular tumors is limited. We present two cases of refractory vascular tumors with impressive response to sirolimus, one with refractory kaposiform hemangioendothelioma with rapid reversal of thrombocytopenia and heart failure and the other with advanced beard distribution hemangioma with improvement of respiratory distress after prolonged respiratory support.

“Cloaca” is a term used to describe an anomaly in the female where a single orifice is located in the perineum draining both urogenital and gastrointestinal tracts. Few reports used the same term “cloaca” to describe the counterpart anomaly in the male. We present two “male” cases of anorectal anomalies associated with significant penile deformity (caudally displaced penis) that were managed during the period between January 2010 and September 2021. Characteristically, both cases had a single “central” perineal orifice. The latter was located anterior to the predestined site of the normal anus and just beneath a caudally positioned hypospadiac phallus. The caudal displacement of the penis was strikingly obvious by the presence of severe form of penoscrotal transposition. Both cases were associated with a perineal swelling (hamartoma) just beside the central perineal orifice. The urethra was very short (like that in the female), besides the single perineal orifice, which makes the presentation very similar to cloacal anomalies.

Infantile hemangiomas (IHs) are common vascular tumors. In most cases, a benign course with favorable outcome can be anticipated. IH typically present as cutaneous lesions either with a localized or diffuse segmental distribution. Segmental hemangiomas in the face may be associated with brain and cardiac anomalies (PHACES syndrome), whereas airway involvement has been reported to be associated with hemangiomas in the “beard” area. Multiple cutaneous hemangiomas may be associated with visceral hemangiomas (commonly in the liver). In this report, we present a new association where deep paravertebral hemangiomatous lesions were observed to be associated with cutaneous back hemangiomas in two consecutive cases.

Abstract CSF flow disorders are frequently encountered in children. The advent of MR technology with the emergence of new pulse sequences allowed better understanding of CSF flow dynamics. In this pictorial review, we aim to conduct a comprehensive review of the MR protocol used to study CSF flow disorders and to discuss the utility of each pulse sequence in the adopted protocol. We will focus on the key anatomical structures that should be examined to differentiate hydrocephalus form ventricular dilatation ex-vacuo. The MR features of obstructive and communicating hydrocephalus will be discussed, in addition to the manifestations of CSF disorders associated with posterior fossa malformations (Dandy-Walker malformation, Chiari, and Blake’s pouch cyst). Moreover, the value of MRI in the assessment of patients following interventional procedures (ventriculoperitoneal shunt and third ventriculostomy) will be addressed.

Objectives: New magnetic resonance imaging (MRI) based on 3D fat-suppressed techniques provide high accuracy for evaluation of brachial plexus and peripheral nerve lesions from a qualitative point of view. However, this qualitative evaluation often demonstrates overlapping features among different pathologies (Pullman et al., 2013). Diffusion weighted imaging (DWI) and diffusion tensor imaging (DTI) are functional MRI techniques that have been successfully applied in the imaging of central nervous system lesions, and now are being imported, with promising results for peripheral nerve and plexus evaluation. Several derived parameters from DWI and DTI studies such as apparent diffusion coefficient (ADC) or fractional anisotropy (FA), can be used as potential biomarkers of neural damage by providing information about axonal flow, fiber organization or myelin integrity (Andreou et al., 2015). In this study we assess the role of DW and DT based quantitative measures in characterization of traumatic and non traumatic lesions of brachial plexus and peripheral nerve and its influence on therapeutic management and outcome. Methods: 34 patients with features of brachial plexopathy and peripheral neuropathy were included in the study. MR neurography examinations included conventional MR sequences and unidirectional DW-MRN with background suppression (DWIBS) and DTI. The images were independently reviewed by two radiologists and the findings were recorded at different levels of the brachial plexus: ganglia, roots, trunks, divisions and cords. Mean ADC and FA values were determined within each lesion and within contra lateral homologous unaffected segment of the plexus. The Mann-Whitney Test was used to calculate the differences in ADC&FA values between diseased and normal sides and the One way ANOVA test between diseased segments of different pathologies with p-values

We report a 4 month old male, 4th in order of birth of healthy consanguineous Egyptian parents with typical characteristics of microcephalic osteodysplastic primordial dwarfism most probably belongs to type I (MOPD I). The patient had intrauterine growth retardation, sparse scalp hair, sparse eyebrows and eyelashes, high arched palate, micrognathia, low set ears, short neck, clenched fists, groove between thumb and palm of hand, arachnodactyly, flexion contractures of elbow and knee. He also had thin dry skin with marked decreased subcutaneous fat and prominent superficial veins over chest and abdomen and mild hypertrichosis over lower back and buttocks. However, the patient had severe anemia and MRI brain findings revealed global hypovolemic brain changes in the form of dilated ventricles and widened cortical sulci, multiple old vascular insults and aneurismal dilatation of right internal carotid artery (ICA) which are consistent with MOPD II. Keywords: Microcephalic osteodysplastic primordial dwarfism type I, Intrauterine growth retardation, Dilatation of internal carotid artery, Severe anemia, Skeletal anomalies, Subcutaneous fat, Superficial veins on skin, Aneurysm of internal carotid artery

Venous malformations represent a major sector of vascular anomalies. Most cases are asymptomatic or subclinical; however, large extensive lesions can cause severe disability and sometimes mortality. In this report, we present a successful case of sirolimus treatment in managing an extensive venous malformation in the pelvis of a 21-month-old boy who presented with life-threatening complications. With a history dating since the day 2 of life, the patient suffered from chronic bleeding due to scrotal skin ulcerations, in addition to recurrent attacks of severe bleeding per rectum necessitating hospital admission and blood transfusion (three attacks since the age of 7 months). Pelvic magnetic resonance image showed the typical findings of extensive venous malformation involving the pelvis, perineum, scrotum, and extending to the gluteal region. The lesion was seen totally encasing the anorectum with marked thickening of their walls almost occluding their lumen. Oral sirolimus (2 mg/m2) was started with a target blood trough level of 5 to 10 ng/mL. Over a follow-up period of 5 months, there was obvious clinical improvement that included healing of skin lesions (scrotal ulcer) with complete re-epithelialization, absence of bleeding per rectum with improvement of constipation, and rise of hemoglobin level from 7.5 to 11.5 g/dL.

Currarino triad is a rare syndrome that may be occasionally encountered during managing cases of anorectal anomalies. The triad consists of anorectal anomaly, sacral bony defect, and a presacral mass. It may be familial or sporadic, with a reported female predominance. Identification of the characteristic notched sacrum (sacral scimitar) in plain X-ray (anteroposterior view) is considered the key for the diagnosis; however, not infrequently, this radiological sign is overlooked, especially with a small sacral defect. Excision of the presacral cyst is usually performed concomitantly during anorectoplasty. The prone position is the standard approach for posterior sagittal anorectoplasty (PSARP) in males; however, in females, the supine position can be used as an alternative (anterior sagittal anorectoplasty). In this case report, excision of the presacral cyst took place in two steps: the first excision during the PSARP procedure in the prone position, and a second operation in the supine lithotomy position to remove a residual component of the lesion that was missed during the primary operation. It was clear that the supine lithotomy position provided better access to explore the presacral space than the prone position, especially with a deeply located cyst as in our case. The role of magnetic resonance imaging (MRI) in the identification of the exact nature and extent of the lesion before surgery is crucial and should be performed in all cases.

Complete colonic duplication is rare, and usually occurs as a part of the caudal duplication syndrome. In such cases, the diagnosis is clinically evident by the presence of two ani arranged side by side in the perineum, which is commonly associated with duplication of the external genitalia as well (double phallus or double vestibule). In this report, we present a special case of anorectal anomaly that was associated with complete tubular colonic duplication. The diagnosis was initially missed due to the uncommon sagittal arrangement of duplicated rectum: one rectum was ending externally into the perineum by rectoperineal fistula, while the other was hidden by its internal termination into the vagina. Our final diagnosis for this case was a variant of anorectal anomaly in the female, which was associated with complete colonic duplication. One colon (which was in the free mesenteric border) terminated anteriorly into the vagina as a part of a “short common channel” cloaca, while the other colon terminated by rectoperineal fistula. Although the anomaly seems to be rather complex and confusing, yet our case was associated with an excellent outcome due to the benign type of anorectal anomalies (rectoperineal fistula and “short common channel” cloaca) and absence of significant sacral dysplasia; in addition to adequate identification of the abnormal anatomy by appropriate investigations and the staged approach for surgical reconstruction.

Purpose: To assess fronto-temporal connectivity in never-medicated patients with first episode schizophrenia (FES). Material and methods: Twelve never-medicated patients (median age = 25.5 y) with first episode schizophrenia (according to DSM-IV system) and sixteen demographically matched controls were enrolled in the study. Conventional MRI sequences were obtained. Single shot echo-planar DTI was acquired in 32 non-collinear directions. Tractography of the direct pathway of the superior longitudinal fasciculus (SLFd) and uncinate fasciculus of both hemispheres was performed, and ROIs at the anterior cingulum and external capsule of both hemispheres were drawn. Fractional anisotropy (FA), radial diffusivity (RD), axial diffusivity (AD) and Trace of the ROIs and reconstructed tracts were calculated. Group comparison was performed using independent sample t-test and Fisher’s exact test. Results: Compared to healthy participants, there was significant reduction of FA of the left external capsule (p = 0.001) with increase in RD and Trace (p = .004, .048 respectively). However, the right SLFd showed significant reduction of AD (p = 0.005) and the left SLFd showed significant reduction of its volume (p = 0.02). Conclusion: In patients with FES, impaired white matter connectivity was recognized in the right SLFd and left external capsule associated with reduction in the volume of the left SLFd.

Objective: This study aimed at determination of the diagnostic benefit of MRCP as a noninvasive method to evaluate the hepatopancreaticobiliary disorders in children. Materials and methods: The study retrospectively enrolled 34 patients undergoing MRCP for suspected hepatopancreaticobiliary abnormalities. MRCP findings were compared with other imaging modalities, ERCP or operative findings. Results: MRCP had overall sensitivity, specificity, and diagnostic accuracy of 93.5%, 100% and 94.1% respectively in detecting the etiology of hepatopancreaticobiliary diseases in our patients. Positive predictive value was 100% while the negative predictive value was 62.5%. Conclusion: MRCP is a fast, non-invasive method for diagnosing hepatopancreaticobiliary disorders in children with high diagnostic accuracy, sensitivity and specificity. MRCP doesn’t involve the use of ionizing radiation which is suitable for children. Thus, MRCP ought to be the standard diagnostic procedure in the future.

We report a 3.5 year old male child, second in order of birth of non consanguineous Egyptian parents with Baraitser–Winter syndrome (BRWS). The patient had bilateral colobomas of the iris and choroid. Our patient had also retinal hypoplasia, which was not reported previously in this syndrome, bilateral congenital ptosis, hypertelorism, moderate mental retardation, short stature, short neck, hyperextensibility of the joints of the hands, talipes equinovarus, kyphoscoliosis and unilateral hypoplastic scrotum and testis.

We report a 4 month old female infant, 3rd in order of birth of the first cousin consanguineous parents. The patient has congenital right facial nerve palsy, with asymmetry of facial expression during crying and difficulty in swallowing. Associated anomalies include abnormal facial features, bilateral finger anomalies, bilateral talipes equinovarus, kyphoscoliosis, hypotonia, high frequency hearing loss. Bilateral macular hyperpigmentation was detected in our patient on fundus examination which was not reported previously in Moebius syndrome cases. In addition there is hypoplasia of the right pectoralis major muscle.

We report a 4.5 year old Egyptian male child, fourth in the order of birth of healthy remote consanguineous parents. He has typical facial as well as skeletal features of Trichorhinophalangeal syndrome (TRPS) II. The facial features included bilateral downward slanting palpebral fissures, bulbous nose, long filtrum, retromicrognathia, sparse hair in the scalp and thick eyebrows. The skeletal features included retarded bone age, cone shaped epiphyses of the phalanges and multiple exostoses. The patient has also growth retardation, moderate mental retardation and hyperlaxity of the right knee joint. However our patient has some features not reported in TRPS II patients. These included bilateral partial ptosis, long eye lashes, preauricular skin tag, short 2nd right finger, short metacarpals of both thumbs. So we have to expand the clinical spectrum. Karyotype demonstrated 46,XY,del 8(q23.3-q24.1).

We report the case of a 2.5 year old female, 2nd in order of birth of 1st cousin consanguineous marriage, with the typical features of Oral–Facial–Digital Syndrome type VI (OFDS VI) including midline pseudo cleft upper lip, sublingual nodule, molar tooth sign by MRI brain, bilateral mesoaxial polydactyly (hexadactyly), and developmental delay. The patient had self mutilations which was not reported before in OFDS VI except once.

We report a 7 year old female child with the classical triad of Meier-Gorlin syndrome (MGS), (microtia, absent patella and short stature). She had the characteristic facial features, with normal mentality and defective speech, skeletal abnormalities, conductive hearing loss, cystitis and normal growth hormone level. She suffered from recurrent chest infection during the first year of life which improved gradually with age. Although congenital heart is rarely observed in MGS, our patient had in addition fenestrated interatrial septal defect.

We report a 4 month old male infant, the first in order of birth of healthy first cousin consanguineous parents who has many typical features of oral-facial-digital syndrome type VI (OFDS VI) including hypertelorism, bilateral convergent squint, depressed nasal bridge, and wide upturned nares, low set posteriorly rotated ears, long philtrum, gum hyperplasia with notches of the alveolar borders, high arched palate, and hyperplastic oral frenula. He has mesoaxial and postaxial, polysyndactyly which is the specific feature of OFDS VI, however the cerebellum is normal on MRI brain. He has also some rare congenital anomalies including common atrioventricular canal, hirschsprung disease, and sacral dysgenesis. This patient may have a transitional type between II and VI, a variant of type VI or a new type.

We report a fifteen month old Egyptian male child, the third in order of birth of healthy non consanguineous parents, who has normal mentality, normal upper limbs and left lower limb. The right lower limb has short femur, and tibia with anterior bowing, and an overlying skin dimple. The right foot has also oligosyndactyly (three toes), and the foot is in vulgus position. There is limited abduction at the hip joint, full flexion and extension at the knee, limited dorsiflexion and plantar flexion at the ankle joint. The X-ray of the lower limb and pelvis shows proximal focal femoral deficiency, absent right fibula with shortening of the right tibia and anterior bowing of its distal third. The acetabulum is shallow. He has a family history of congenital cyanotic heart disease. Our patient represents most probably the first case of femur fibula ulna syndrome (FFU) in Egypt with unilateral right leg affection. We suggest that the condition in our patient may be due to a rare autosomal dominant mutation with possible gonadal mosaicism and with variable expression in the family, as limb anomaly in one child and cyanotic congenital heart disease in another child.