Case Of Late Presentation Research Articles

A case of late presentation of recurrent primary choledocholithiasis 30 years post-cholecystectomy: Presentation and management

Acute cholangitis typically occurs secondary to biliary obstruction and bile stasis. While the most common cause is secondary choledocholithiasis (i.e., stones form in the gallbladder and are expelled into the common bile duct), there is little information on primary choledocholithiasis as the principal source of this obstruction. Furthermore, it is particularly rare to see symptomatic choledocholithiasis years to decades later in patients who previously underwent cholecystectomy. We report a complex case of a 75-year-old woman who presented to the emergency department with a 3 to 4-day history of abdominal pain, nausea, generalized weakness, fever, and shortness of breath. She had septic cholangitis due to primary choledocholithiasis 30 years post-cholecystectomy and numerous other comorbidities that increased the complexity of her case. Endoscopic retrograde cholangiopancreatography (ERCP) was attempted to remove the stone but was unsuccessful due to duodenal diverticula. Eventually, this patient underwent common bile duct exploration using a robot-assisted approach. A 2 cm stone at the distal common bile duct was removed, and her clinical status dramatically improved. The efficiency and increased fine control of a robot-assisted approach introduces our idea that this approach should be an alternative management option for minimally invasive common bile duct exploration in patients who have high-risk comorbidities and failed ERCP. Keywords: Acute cholangitis, primary choledocholithiasis, recurrent choledocholithiasis, post-cholecystectomy, robotic-assisted common bile duct exploration

Right perirenal urinoma and urinothorax in an infant after neonatal ablation of posterior urethral valve: A rare complication diagnosed by pleural aspiration and treated with perinephric drainage: a case report

ObjectiveUrinothorax and urinoma are rare complications of obstructive uropathy. They might occur due to persistent high back pressure on the renal parenchyma. Urinothorax usually arises while the obstruction exists; in contrast to our case, the child presented after being operated on. He had falsely high creatinine before the operation, which was later explained by creatinine recirculation.Clinical presentation and interventionWe are reporting an uncommon case of late presentation of ruptured urinoma in a 2-month-old Kuwaiti male. It led to urinothorax/uroperitoneum that caused respiratory distress and was associated with creatinine recirculation, requiring retroperitoneal perinephric catheter insertion. The child had recovered and was discharged home.ConclusionA high index of suspicion is required to diagnose urinothorax, especially in patients with a history of obstructive uropathy. Aspiration of the pleural effusion will guide you to reach the diagnosis. Creatinine recirculation is rarely described in the literature. Having a patient with urinothorax/uroperitoneum should raise the suspicion of falsely elevated creatinine levels.

P.064 A case of late onset Pompe Disease presenting in 6th decade

Background: Late onset Pompe disease (LOPD), rare autosomal recessive lysosomal storage disease, resulting from mutation in alpha glucosidase enzyme (GAA) can present even in 6th decade of life. Slowly progressive, subtle, limb girdle pattern of weakness (LGPW), with auxiliary features such as ptosis, enlarged tongue, axial rigidity, facial diplegia, variable degree of respiratory weakness is not uncommon. Hypertrophic and electrical cardiac abnormalities are well described in LOPD. Methods: We present a case of 67-year-old male presenting with proximal weakness, subtle ptosis, bilateral quadriceps and shoulder girdle atrophy, and left toe numbness. PMHx: CABG, NSTEMI. Statin use. FMHx: noncontributory. Results: EMG: L5 radiculopathy, with unexpected myopathic units in hip/pelvic/ shoulder girdle muscles with active denervation and muscle irritability. CK, CRP, SPEP, ANA, LFTs, HMG-CoA reductase: normal. GAA enzymatic activity=0.96µmol/L/hr (low), genetics: pathogenic variants in GAA gene: c.-32-13T>G and c.1194+3G>C. ECHO: severe diastolic dysfunction, restrictive left ventricular filling. PFTs: normal. Diagnosed with LOPD, started on therapy. Conclusions: LOPD remains a differential for LGPW especially in older patient population with history of cardiopulmonary features. Age-appropriate conconminant pathologies may confound the diagnostic process.Symptoms may preceed diagnosis for years.GAA enzymatic activity followed by genetic testing remains readily available and can confirm diagnosis, preventing delay of approved therapy.

A rare complication of pediatric liver transplantation: Post-transplant diaphragmatic hernia.

Acquired post-transplant diaphragmatic hernia (PTDH) is a rare complication of liver transplantation (LT) in children. We aimed to present our experience in PTDH, and a possible causative background is discussed. Medical records of patients who had undergone diaphragmatic repair following LT between 2015 and 2023 were reviewed. Demographic information, details of primary diseases necessitating LT, transplantation techniques, and clinical findings associated with PTDH were evaluated. There were seven patients with PTDH. Median age at transplantation was 69 (range: 9-200) months. Five patients received a left lateral sector, one patient had a right lobe, and one had a left lobe graft. Time between LT and PTDH was 9 (2-123) months. One patient who was diagnosed in the postoperative 10th year was asymptomatic. Respiratory distress and abdominal pain were the main symptoms among all. All patients underwent laparotomy, and primary repair was performed in six patients, and one patient required mesh repair because of a large defect. Small intestine herniated in most cases. There were two complicated cases with perforation of the stomach and colonic volvulus. There is no recurrence or long-term complications for the median 60 (20-119) month follow-up period. PTDH is a rare but serious complication. Majority of symptomatic cases present within the first postoperative year, whereas some late-presenting cases may not be symptomatic. Inadvertent injury to the inferior phrenic vasculatures due to excessive use of cauterization for control of hemostasis may be a plausible explanation in those cases.

The value of multimodal ultrasonography in the evaluation of late presenting testicular torsion in a rat experimental model.

To evaluate the value of multimodal ultrasonography (US) in a rat experimental torsion model after 6 h of torsion with different degrees. Twenty-one male rats were divided into three groups. Left testes of the rats were twisted around their vascular pedicle 360 degrees in group 1, 720 degrees in group 2, and 1080 degrees in group 3 and intact right testes of the rats were accepted as control group. Grey-scale US, superb microvascular imaging (SMI), colour Doppler ultrasonography (CDUS), strain elastography (SE), and two-dimensional (2-D) shear wave elastography (SWE) examinations were applied 6 h after torsion procedure and testes were removed for pathological evaluation. Short-axis dimensions and volumes of the torsion side were higher than control testes. Lengths of the testes in the 3rd torsion group were smaller than the testes in groups 1 and 2 (P < 0.002). SMI was better than CDUS in recognizing blood flow in testicular tissue. Strain ratios were higher in group 1 and decreased with the increasing torsion degree. Emean and standard deviation (SD) measurements increased in the torsion side. Pathologically the mean testicular damage scores were statistically significant between torsion and control testes in all groups. Our results showed that short-axis and volume measurements, SMI, 2D-SWE, and SE are effective in the evaluation and diagnosis of testicular torsion (TT). Evaluation of affected testis and intact testis with multiparametric US in late presenting TT cases is more reliable than being dependent on a single sonographic modality.

S4111 A Pigmented Pull: A Case of Late Metastatic Melanoma Presenting as Ileocolic Intussusception

S4111 A Pigmented Pull: A Case of Late Metastatic Melanoma Presenting as Ileocolic Intussusception

1214 Wilkie's Syndrome - a Case Report

Abstract Aortomesenteric duodenal compression syndrome (Wilkie’s syndrome) describes compression of the third duodenal segment between the superior mesenteric artery and aorta, causing upper gastrointestinal (UGI) obstruction. Wilkie’s syndrome typically presents with significant weight loss and features of UGI obstruction. It can initially be treated conservatively with decompression and appropriate re-feeding, but occasionally requires surgical correction. In this presentation, we describe a case of Wilkie’s syndrome in a non-English speaking foreign national, disengaged from healthcare. Case Presentation A 47-year-old Romanian national presented with two months of severe epigastric pain, vomiting, inability to tolerate food intake and severe weight loss, with a background of five years of similar symptoms. On examination, the patient was tachycardic (130), severely dehydrated with skin tenting, and cachexic with a distended abdomen and palpable mass in the epigastrium. Computed tomography imaging was performed, excluding an obstructing malignancy, instead demonstrating significant stomach distension (∼50% of the peritoneal cavity), from Wilkie's Syndrome. The patient underwent oesophagogastroduodenoscopy which demonstrated oesophagitis, gastritis and a duodenal ulcer. Biopsies were negative for H pylori and malignancy. Management involved nasogastric tube decompression, intravenous electrolyte collection, fluid resuscitation and high dose PPI. The patient was discharged on day 6 with planned follow-up in one month and assessment for requirement of surgical management for Wilkie’s syndrome. Discussion We present a rare case of Wilkie’s syndrome and discuss conservative and surgical management. We also use this case of late presentation to highlight the challenges of management, and the importance of clearly communicated follow-up plans in vulnerable populations.

The impact of the introduction of selective screening in the UK on the epidemiology, presentation, and treatment outcomes of developmental dysplasia of the hip.

Developmental dysplasia of the hip (DDH) can be managed effectively with non-surgical interventions when diagnosed early. However, the likelihood of surgical intervention increases with a late presentation. Therefore, an effective screening programme is essential to prevent late diagnosis and reduce surgical morbidity in the population. We conducted a systematic review and meta-analysis of the epidemiological literature from the last 25 years in the UK. Articles were selected from databases searches using MEDLINE, EMBASE, OVID, and Cochrane; 13 papers met the inclusion criteria. The incidence of DDH within the UK over the last 25 years is 7.3/1,000 live births with females making up 86% of the DDH population (odds ratio 6.14 (95% confidence interval 3.3 to 11.5); p < 0.001). The incidence of DDH significantly increased following the change in the Newborn and Infant Physical Examination (NIPE) guidance from 6.5/1,000 to 9.4/1,000 live births (p < 0.001). The rate of late presentation also increased following the changes to the NIPE guidance, rising from 0.7/1,000 to 1.2/1,000 live births (p < 0.001). However, despite this increase in late-presenting cases, there was no change in the rates of surgical intervention (0.8/1,000 live births; p = 0.940). The literature demonstrates that the implementation of a selective screening programme increased the incidence of DDH diagnosis in the UK while subsequently increasing the rates of late presentation and failing in its goal of reducing the rates of surgical intervention for DDH.

Parameatal urethral cyst: A case series of three rare cases and literature review

Introduction and importanceParameatal urethral cyst is a rare benign congenital urethral disorder with limited reports in the literature. The formation of the cyst is believed due to the obstruction of the paraurethral duct. This disorder usually does not produce symptoms even though, in an advanced case, urinary retention and flow disturbance may occur. Case presentationHerewith, we report case series of parameatal urethral cysts in 5, 11, and 17 years old boys treated with complete surgical cyst excision. The first was 11 years-old-boy with asymptomatic 7 mm swelling in his urethral meatus. The second case was a 5 years-old-boy with 5 mm swelling in his urethral meatus with the complaint of urinary stream distortion. The third case involved a 17-year-old adolescent with a 4 mm cystic bulge in his urethral meatus that caused urinary distortion. Clinical discussionsIn these cases, the cysts were completely removed with surgical excision and the patients underwent circumcision. Histological examination revealed a cyst wall lined with squamous and columnar epithelium. Good cosmetic result without any recurrent mass and voiding difficulties was reported after 2 weeks of follow-up. ConclusionsThis study reported three cases of parameatal urethral cysts late presentation at an older age due to no prior symptoms. The patients were managed with surgical excision of the cyst resulting in good cosmesis outcome and without recurrence.

The effect of selective ultrasound screening on the incidence of late presentation of developmental hip dysplasia-a meta-analysis.

Different screening strategies for developmental dysplasia of the hip (DDH) exist. Despite screening efforts, cases of late presentation continue to occur, often necessitating surgery. This systematic review and meta-analysis assess the effect of newborn selective ultrasound screening for DDH on the incidence of late presentation in infants and children, compared to a universal ultrasound strategy. A systematic search across Medline and EMBASE databases was performed between January 1950 and February 2021. A consensus-based evaluation of abstracts led to retrieval of relevant full text, original articles or systematic reviews in English only. These were assessed according to agreed eligibility criteria, and their reference lists were reviewed to identify additional eligible publications. Following final consensus on included publications, data was extracted, analysed and reported as per PRISMA and Prospero (CRD42021241957) guidelines. The 16 eligible studies consisted of 2 randomised controlled trials and 14 cohort studies, published between 1989 and 2014, with a total of 511,403 participants. In total, 121,470 (23.8%) received a neonatal hip ultrasound, of whom 58,086 and 63,384 were part of a selective or a universal ultrasound screening strategy, respectively. The difference in the proportion of late presentation between the universal and selective strategies was 0.0904 per 1,000 (P = 0.047). The time effect, i.e. the difference between early and late presentation defined respectively, as less than and more than 3 months of age, regardless of screening strategy, was not significant (P = 0.272). Although there was variability in study design and reporting, the quality of the evidence, based on the critical appraisal skills programme appraisal tools, was generally good. Compared to universal ultrasound screening for DDH, selective screening resulted in a slightly higher rate of late presentation. Uniformity in design and reporting of DDH studies and a cost-effectiveness analysis are needed.

Congenital Pseudarthrosis of the Tibia: Long-term Outcome of Treatment With Intramedullary Vascularized Fibular Graft Combined With Ilizarov Dstraction.

Late presenting cases of congenital pseudarthrosis of the tibia, are further complicated with severe shortening. Limb length discrepancy (LLD) cannot be corrected by vascularized fibular grafting and the use of Ilizarov distraction is associated with a high rate of complications. The aim of this study was to report the long-term follow-up of a combined technique previously published under the name "telescoping vascularized fibular graft". Eleven patients operated at an average age of 10.2±3.2 years were reviewed. All cases were Crawford type IV affected by neurofibromatosis 1. Nine patients had an average of 4.3 previous operations. Preoperative LLD averaged 7.9±2.5cm. Follow-up averaged 10±5.4 years. Seven cases (63.6%) reached skeletal maturity before final follow-up. Primary union was achieved in all cases after an average of 7.2±1.3 months. Full weightbearing was possible after an average of 10.6±2.2 months. Recurrent stress fractures occurred in 9 cases (81.8%) and healed with casting in 6 cases and required internal fixation in 3 cases. Eight cases (72.8%) developed tibial shaft deformities, mainly procurvatum that required corrective osteotomy in 2 cases. Final LLD averaged 2.7±1.3cm. Complete tibialization of the graft was achieved after an average of 17.0 ± 3.6 months. Valgus deformity of the ipsilateral ankle averaged 12.4 degrees±7.5. The presented technique avoids osteotomy of the diseased bone and allows simultaneous treatment of the pseudarthrosis and correction of shortening. Compared with conventional bone transport, it requires shorter time of frame application and therefore better patient tolerability because there is no waiting for consolidation of the regenerate. The dis-impaction of the doweled fibula occurs proximally, allowing the less active site located at the distal aspect of the pseudarthrosis to heal without displacement. A shortcoming of the presented technique is the more propensity for axial deviation and refractures that seldom require surgery. Level-IV.

An unusual cardiac magnetic resonance finding in a patient with syphilis presenting with heart block

BackgroundSyphilis is caused by Treponema pallidum either via sexual exposure or vertical transmission during pregnancy. The disease course of infected individuals is divided into primary, secondary, and tertiary stages over a period of years. Latent syphilis most commonly involves the central nervous system and the aorta. Here we present a case of late latent syphilis presenting as heart block with evidence of myocardial fibrosis involving the septum and lateral wall in cardiac MRI.Case presentationA 53-year-old female patient, who was clinically diagnosed with late latent syphilis, presented with multiple episodes of syncopal attacks and was rushed to an outside hospital where ECG revealed a complete heart block. She was referred to our tertiary care centre. The patient was received in the Cardiac Care Unit and then referred for a cardiac MRI to identify a potential cause for the complete heart block. Recently published new Lake Louise criteria (nLLC) (Li et al. in Front Cardiovasc Med, 2021. https://doi.org/10.3389/fcvm.2021.739892), following the introduction of myocardial mapping, redefined imaging diagnosis according to the combined presence of a T1 criterion [presence of LGE (late gadolinium enhancement) or increased T1 mapping or extracellular volume values] and a T2 criterion (hyperintensity in T2 weighted STIR or increased T2 mapping values). Cardiac MRI features in our case were consistent with myocarditis based on the above criteria.ConclusionsMyocarditis as a manifestation of late latent syphilis is very rare. Cardiac complications of late syphilis have so far been described in terms of ascending aortitis and dissection with coronary artery rupture. Syphilitic myocarditis occurs most commonly as a coincidental finding of endomyocardial biopsies. Targeted screening for involvement using CMR can be instrumental in elucidating this rare, but treatable diagnosis. We hereby report a rare case of myocarditis with heart block in a patient with late latent syphilis, hitherto unreported in the literature as of date.

A Case of Late Presentation of Supracardiac Total Anomalous Pulmonary Venous Connection in an Adult

Abstract Total anomalous pulmonary venous connection (TAPVC) is a rare cyanotic congenital heart disease and their survival into adulthood is even rarer. Here, we present the case of a 26-year-old female who was incidentally diagnosed with a case of supracardiac TAPVC during her pregnancy. All four pulmonary veins were joining to form a common venous confluence which drained into a left-sided vertical vein which drained into the innominate vein.

Long-Term Results of Microsurgical Brachial Plexus Reconstruction in Late-Presenting Cases of Brachial Plexus Birth Injury

The role of primary surgery in delayed presenting cases of brachial plexus birth injury is still debated. The purpose of this study was to evaluate the results of brachial plexus reconstruction performed at the age of ≥12 months. Twenty-nine cases were included. Five cases had upper (C5-6) palsy, 4 had upper/middle (C5-7), and 20 had total (C5-8 and T1) palsy. The age at the time of primary surgery was an average of 15.6 months. The brachial plexus was formally explored and neurolysis, grafting, and neurotization were used in different combinations. Exploration revealed that 27% of the roots were avulsed and 32% were ruptured. The follow-up was an average of 7.9 years. Generally, the best functional recovery was elbow flexion followed by shoulder external rotation. Satisfactory shoulder abduction (≥6 on the Toronto Active Movement Scale [TAMS]) was achieved in 31% of cases. The abduction range was an average of 79° ± 35°; 50° in upper palsy, 103° in upper/middle palsy, and 82° in total palsy. Shoulder external rotation ≥6 on the TAMS was achieved in 62% of cases. External rotation range was an average of 58° ± 29°; 78° in upper palsy, 68° in upper/middle palsy, and 52° in total palsy. Elbow flexion and extension of ≥6 on the TAMS were achieved in 69% and 58% of cases, respectively. Wrist flexion and finger flexion of ≥6 on the TAMS were achieved in 35% and 12.5%, whereas wrist and finger extension of >6 on the TAMS were achieved in 25% and 4% of cases, respectively. In the delayed presentation of brachial plexus birth injury, brachial plexus reconstruction results in good functional recovery of elbow flexion and shoulder external rotation but modest functional recovery of finger flexion and wrist extension. The rate of functional recovery of the elbow flexion was similar following nerve grafting and transfer. Nerve transfer for shoulder external rotation should be considered even in infants with available roots for grafting. Therapeutic IV.

Chronic Osteochondral Fractures of the Patella Managed with Open Reduction and Internal Fixation Yields Excellent Knee Function.

Currently, the management of acute osteochondral fractures (OCFs) of the patella is well established. However, the management of chronic OCFs remains debatable, as it is not clear whether such lesions can be accurately reduced or whether they will reliably heal. With well proven results of open reduction and internal fixation (ORIF) with headless compression screws (HCS) for acute OCFs, the application of this technique in late presenting cases is inconclusive. Thus, we present the clinicoradiological outcome of patients with chronic osteochondral injuries managed with ORIF. Fifteen patients who underwent surgical fixation by ORIF with HCS for chronic OCFs of the patella, between February 2013 and June 2018, were retrospectively analyzed after a mean follow-up of 3.8 years (range: 2-7 years). The mode of injury, size of the osteochondral fragment, and knee range of motion along with Kujala's scoring were examined clinically and radiological assessment was done by X-rays and magnetic resonance imaging (MRI) scans. Fifteen patients (11 males and 4 females), with a mean age of 17 years with chronic OCF of patella were enrolled. Noncontact twisting injuries were the most common mode of injury seen in 86.66% of patients and postcontact injuries in two patients (13.33%). The mean time from trauma to presentation was 7 weeks (range: 6-14 weeks). The mean preoperative Kujala's score improved from 44 to 84.8 at 6 months and 92.6 at 2 years, postoperatively. Intraoperatively, the lesion was found in medial patellar facet in 12 patients and 3 had lesions in the central facet. The mean size of the lesion was 20 mm × 18 mm. Radiological union was observed in all patients, at a mean duration of 16 weeks (range: 12-20 weeks). One patient underwent implant removal 1 year after initial surgery for mechanical symptoms. ORIF of OCFs of the patella using headless cannulated screws is simple, reliable, reproducible, and provides satisfactory outcomes. This technique can be considered for fixation of fragments with adequate subchondral bone.

A RARE PRESENTATION OF INFECTED URACHAL SINUS IN AN ADULT – CASE REPORT

Urachal anomalies are infrequent in adult population. Few cases of urachal sinuses are reported and are usually asymptomatic unless a complication occurs, most likely infectious. Clinical manifestations include purulent umbilical discharge, abdominal pain and periumbilical mass. We report a rare case of late presentation of an infected urachal sinus in a male adult. Antibiotic therapy was followed by surgical excision. Histological examination revealed no signs of malignancy.

A Case of Late Infantile Metachromatic Leukodystrophy Presenting with Gradually-onset Paraplegia

A Case of Late Infantile Metachromatic Leukodystrophy Presenting with Gradually-onset Paraplegia

Congenital diaphragmatic hernia: an unusual presentation

Congenital diaphragmatic hernia is a developmental defect of the diaphragm that allows herniation of abdominal contents into the thoracic cavity. It is usually diagnosed in the neonatal period. Late presenting cases are uncommon and difficult to diagnose, due to their rarity and diversity of semiology, with clinical presentation overlapping with other more frequent pathologies. We report a case of a 14-month-old male, with history of several episodes of bronchial hyperresponsiveness, that presented with a two-day history of nasal obstruction, emetizing cough and respiratory distress, without other associated symptoms. On physical examination we observed a 95% oxygen saturation, tachycardia, pallor, signs of respiratory distress, decreased breathing sounds in the left hemithorax and excavated abdomen. Chest radiography revealed the presence of intestinal loops in the left hemithorax, with contralateral mediastinal deviation, suggesting diaphragmatic hernia. Surgical correction was performed with direct closure of the posterolateral defect. This case highlights the importance of clinical evaluation and considering this entity in cases of persistent gastrointestinal or respiratory symptoms, in all age groups.

Delayed vascular complication after total hip replacement

Vascular injuries following an arthroplasty are a nightmare for both patient and surgeon. When the presentation is delayed and atypical, it is of major concern. We present a case of late presentation of pseudoaneurysm of common femoral artery left hip following total hip replacement. A 54-year-old male presented with complaints of weakness and numbness left knee, following total hip arthroplasty, which was performed 4 months earlier at an outside institution for secondary osteoarthritis of the left hip. on evaluation was found to have pseudoaneurysm of Femoral artery. Due to the co morbid condition of the patient (CKD, DM, Obsity) elevated creatinine values non surgical method of embolization of the pseudoaneurysm via one coil and Gelfoam was deferred and was decided to manage the psuedoaneurysm surgically with repair and PTFE graft. High suspicion in the setting of unresolving postoperative pain, paralysis, or need for blood transfusions may allow for earlier diagnosis and avoidance of serious limb-threatening complications. Care during the procedure for accurate retractor placement and careful manipulation may help avoid serious complications.

Treatment of Sagittal Craniosynostosis Using Osteoplastic Parietal Craniotomy Flap With Distraction Osteogenesis: A Variation on Technique.

Late presentation sagittal craniosynostosis presents a unique challenge due to the decreased ability of the skull to repair the bony defects created by standard of care techniques. Distraction osteogenesis is a viable strategy to correct this defect in late presenting cases. The authors describe a variation in technique in which the temporalis muscle origin is retained, creating an osteoplastic bone flap with retained vascularity through the tem-poralis muscle. This may improve postoperative bony healing of bony defects in this compromised population. The authors present two patients who presented to them late with sagittal synostosis who were treated with distraction osteogenesis in which vascular continuity to the parietal bones is preserved through the temporalis muscle.