A novel GRK2 variant in a patient with Jeune asphyxiating thoracic dysplasia accompanied by Morgagni hernia.

Skeletal ciliopathies constitute a subgroup of ciliopathies characterized by various skeletal anomalies arising from mutations in genes impacting cilia, ciliogenesis, intraflagellar transport process, or various signaling pathways. Short-rib thoracic dysplasias, previously known as Jeune asphyxiating thoracic dysplasia (ATD), stand out as the most prevalent and prototypical form of skeletal ciliopathies, often associated with semilethality. Recently, pathogenic variants in GRK2, a subfamily of mammalian G protein-coupled receptor kinases, have been identified as one of the underlying causes of Jeune ATD. In this study, we report a new patient with Jeune ATD, in whom exome sequencing revealed a novel homozygous GRK2 variant, and we review the clinical features and radiographic findings. In addition, our findings introduce Morgagni hernia and an organoaxial-type rotation anomaly of the stomach and midgut malrotation for the first time in the context of this recently characterized GRK2-related skeletal ciliopathy.

Hippocampal sclerosis and temporal lobe epilepsy following febrile status epilepticus: The FEBSTAT study.

OBJECTIVE: This study was undertaken to determine whether hippocampal T2 hyperintensity predicts sequelae of febrile status epilepticus, including hippocampal atrophy, sclerosis, and mesial temporal lobe epilepsy. METHODS: Acute magnetic resonance imaging (MRI) was obtained within a mean of 4.4 (SD = 5.5, median = 2.0) days after febrile status on >200 infants with follow-up MRI at approximately 1, 5, and 10 years. Hippocampal size, morphology, and T2 signal intensity were scored visually by neuroradiologists blinded to clinical details. Hippocampal volumetry provided quantitative measurement. Upon the occurrence of two or more unprovoked seizures, subjects were reassessed for epilepsy. Hippocampal volumes were normalized using total brain volumes. RESULTS: Fourteen of 22 subjects with acute hippocampal T2 hyperintensity returned for follow-up MRI, and 10 developed definite hippocampal sclerosis, which persisted through the 10-year follow-up. Hippocampi appearing normal initially remained normal on visual inspection. However, in subjects with normal-appearing hippocampi, volumetrics indicated that male, but not female, hippocampi were smaller than controls, but increasing hippocampal asymmetry was not seen following febrile status. Forty-four subjects developed epilepsy; six developed mesial temporal lobe epilepsy and, of the six, two had definite, two had equivocal, and two had no hippocampal sclerosis. Only one subject developed mesial temporal epilepsy without initial hyperintensity, and that subject had hippocampal malrotation. Ten-year cumulative incidence of all types of epilepsy, including mesial temporal epilepsy, was highest in subjects with initial T2 hyperintensity and lowest in those with normal signal and no other brain abnormalities. SIGNIFICANCE: Hippocampal T2 hyperintensity following febrile status epilepticus predicted hippocampal sclerosis and significant likelihood of mesial temporal lobe epilepsy. Normal hippocampal appearance in the acute postictal MRI was followed by maintained normal appearance, symmetric growth, and lower risk of epilepsy. Volumetric measurement detected mildly decreased hippocampal volume in males with febrile status.

Intestinal Atresias: A Ten-Year Evaluation of Outcomes.

INTRODUCTION: Intestinal atresia is a common cause of neonatal bowel obstruction. Atresias are often associated with other congenital anomalies. The purpose of the study was to evaluate associated anomalies, operative management, and postoperative outcomes of infants with intestinal atresia. METHODS: A review of patients presenting to a single free-standing children's hospital from March 2012 through February 2022 was performed. The variables examined were type of atresia, additional congenital anomalies, type of operative intervention, and postoperative outcomes. Standard statistical methods were utilized. RESULTS: A total of 75 patients with intestinal atresia were identified and several of these patients had multiple atresias. Isolated duodenal atresia patients were the most common (49.3%), followed by jejunal (32%) and ileal (12%). Mixed atresias were rare at 4%, with isolated pyloric and colonic also rare at 1.3% each. Malrotation was associated with 13% of patients and equally associated with duodenal and jejunoileal atresias. A low percentage (3%) of intestinal atresias was seen in conjunction with gastroschisis and concomitant malrotation. A majority of infants with duodenal atresia underwent standard duodenoduodenostomy (19% laparoscopic, 81% open). In infants with jejunoileal atresia, most underwent resection with primary anastomosis. A tapering enteroplasty was performed primarily in 13% of atresias. There were no significant differences noted in time to first feed or length of stay between those with and without tapering enteroplasty. Eleven percent of patients required subsequent intervention for stricture or small bowel obstruction. There was one death in this series. CONCLUSIONS: Consistent with other literature, duodenal atresia was the most common type of intestinal atresia. However, we demonstrated that malrotation was equally associated with duodenal and jejunoileal atresias while prior reports had shown a higher association with duodenal atresia. In our patient population, the use of tapering enteroplasty did not appear to be associated with outcomes. Overall, these infants have a low morbidity and mortality rate with a rare need for reoperation.

High risk and low incidence diseases: Pediatric digestive volvulus.

INTRODUCTION: Pediatric digestive volvulus is a serious condition that carries with it a high rate of morbidity and mortality. OBJECTIVE: This review highlights the pearls and pitfalls of pediatric digestive volvulus, including the presentation, diagnosis, and management in the emergency department (ED) based on current evidence. DISCUSSION: Pediatric digestive volvulus is a deadly condition most commonly associated with malrotation. It occurs when the stomach or small intestine twists on itself, resulting in ischemia and potentially strangulation with necrosis and perforation. Presentation differs based on the gastrointestinal (GI) segment affected, degree of twisting, and acuity of the volvulus. Gastric volvulus most commonly presents with retching with or without nonbilious emesis and epigastric distension with pain, while midgut volvulus typically presents with bilious emesis in infants. Patients with GI necrosis and perforation may present with hemodynamic compromise and peritonitis. If suspected, emergent consultation with the pediatric surgery specialist is necessary, and if this is not available, transfer to a center with a pediatric surgeon is recommended. Imaging includes plain radiography, ultrasound, or upper GI series, while treatment includes resuscitation, administration of antibiotics, and emergent surgical decompression and detorsion of the involved segments. CONCLUSION: An understanding of pediatric digestive volvulus and its many potential mimics can assist emergency clinicians in diagnosing and managing this deadly disease.

No safe time window in malrotation and volvulus: A consecutive cohort study.

BACKGROUND: Malrotation and volvulus classically present with bilious vomiting. It is more common earlier in life, but there are other causes of bile-stained vomiting. This leads some clinicians to 'watch and wait'. In the presence of a volvulus, this is potentially a fatal decision. It is not clear from the literature if there is a safe time window in which children can be observed in the hope of avoiding transfers or radiological investigations. AIM: To determine whether time to identification and management of midgut volvulus correlated with morbidity and mortality; and whether there were patterns to transition of care. METHODS: Multicentre, retrospective review of all children with malrotation ± volvulus at two tertiary children's hospitals in Brisbane from 2000 to 2012. Data collected included age at presentation, timing between symptom onset and presentation, radiological findings, and definitive surgical management. Outcomes included patient length of stay (LOS), total parenteral nutrition (TPN) duration, re-operations and death. RESULTS: There were 96 cases of malrotation identified, with 23 excluded (elective operation, insufficient data). Neonates made up 66% of included cases. Only 14% of cases were over 12 months old. Bilious vomiting or bile-stained aspirates were the presenting symptoms in 71% (52). Overall mortality was 5.56%. Time from symptom onset to presentation or management was not significantly associated with morbidity or mortality. More than half (53%, 39/73) of patients received total parenteral nutrition; 20/39 for more than 10 days. Neonates and infants had a significantly higher rate of TPN compared with older children (P < 0.001). Those requiring TPN post-operatively had a significantly higher mortality compared with those who did not (P = 0.02). Time from symptom onset to presentation or definitive management was not significantly associated with LOS, TPN duration, or need for re-operation. CONCLUSION: Malrotation remains a time-critical diagnosis to secure and treat. Even a short duration of symptoms can be associated with high morbidity or mortality. There is no place for 'watch and wait' for such patients, and malrotation/volvulus should be emergently actively excluded with contrast studies.

Clinical management of intestinal malrotation in different age groups.

PURPOSE: Intestinal malrotation, characterized by abnormal intestinal positioning, can lead to severe complications like volvulus and internal hernias, especially in neonates and children. Our aim was to evaluate the diagnostic methods, treatment results and postoperative follow-up of pediatric patients treated for intestinal malrotation. METHODS: This retrospective study reviewed medical records of pediatric patients who underwent surgery for intestinal malrotation between January 2013 and January 2022. Data on demographics, symptoms, diagnostic approaches, surgical interventions, and postoperative outcomes were analyzed. RESULTS: The study included 45 patients, with a male predominance (68.8%). Ages ranged from 1 day to 15 years, averaging 1.54 years. Presenting symptoms were acute abdomen (n = 21) and chronic abdominal pain with vomiting (n = 24). Diagnoses were established via physical exams and imaging, including upper gastrointestinal contrast studies and abdominal ultrasonography. All patients received the Ladd procedure, with some requiring necrotic bowel resection due to volvulus. CONCLUSION: The diagnosis and management of pediatric intestinal malrotation present significant challenges due to its variable symptoms and potential for life-threatening complications. Early and accurate diagnosis, followed by appropriate surgical management, is crucial. This study emphasizes the importance of diligent postoperative follow-up to identify and mitigate complications, particularly in younger and severely affected patients.

The performance of ultrasound and upper gastrointestinal study in diagnosing malrotation in children, with or without volvulus.

BACKGROUND: Rapid diagnosis is crucial for pediatric patients with midgut volvulus and malrotation to prevent serious complications. While the upper gastrointestinal study (UGIS) is the traditional method, the use of ultrasound (US) is gaining prominence. OBJECTIVES: To assess the diagnostic sensitivity and specificity of US compared to UGIS for malrotation and midgut volvulus. METHODS: A cross-sectional study was performed on 68 pediatric patients who underwent US and/or UGIS before surgery for suspected midgut volvulus or malrotation in Kuala Lumpur (PPUKM and HTA), referencing surgical outcomes as the gold standard. RESULTS: US demonstrated a higher specificity (100%) than UGIS (83%) for diagnosing malrotation, with a slightly lower sensitivity (97% vs. 100%). For midgut volvulus, US surpassed UGIS in sensitivity (92.9% vs. 66.7%) while maintaining comparable specificity. The SMA/SMV criteria showed better sensitivity (91.1%) than the D3 assessment (78.9%) on US, though both had high specificity. CONCLUSION: US is equivalent to UGIS for identifying malrotation and is more sensitive for detecting midgut volvulus, supporting its use as a primary diagnostic tool. The study advocates for combined US and UGIS when either yields inconclusive results, optimizing diagnostic precision for these conditions.

Comparison of anatomic axes with a navigated functional rotation axis determined by ligament tension for rotational femoral component alignment in cadaver knee arthroplasty.

INTRODUCION: The malimplantation of the total knee arthroplasty (TKA) components is one of the main reasons for revision surgery. For determining the correct intraoperative femoral rotation several anatomic rotational axes were described in order to achieve a parallel, balanced flexion gap. In this cadaveric study prevalent used rotational femoral axes and a navigated functional rotational axis were compared to the flexion-extension axis defined as the gold standard in rotation for femoral TKA component rotation. MATERIALS AND METHODS: Thirteen body donors with knee osteoarthritis (mean age: 78.85 ± 6.09; eight females and five males) were examined. Rotational computer tomography was performed on their lower extremities pre- and postoperatively. Knee joint arthroplasties were implanted and CT diagnostics were used to compare the preoperatively determined flexion-extension axis (FEA). The FEA is the axis determined by our surgical technique and serves as an internal reference. It was compared to other axes such as (i) the anatomical transepicondylar axis (aTEA), (ii) the surgical transepicondylar axis (sTEA), (iii) the posterior condylar axis (PCA) and (iv) the functional rotation axis (fRA). RESULTS: Examination of 26 knee joint arthroplasties revealed a significant angular deviation (p*** < 0.0001) for all axes when the individual axes and FEA were compared. aTEA show mean angular deviation of 5.2° (± 4.5), sTEA was 2.7° (± 2.2), PCA 2.9° (± 2.3) and the deviation of fRA was 4.3° (± 2.7). A tendency towards external rotation was observed for the relative and maximum axis deviations of the aTEA to the FEA, for the sTEA and the fRA. However, the rotation of the posterior condylar axis was towards inwards. CONCLUSIONS: All axes showed a significant angular deviation from the FEA. We conclude that the presented technique achieves comparable results in terms of FEA reconstruction when compared with the use of the known surrogate axes, with certain deviations in terms of outliers in the internal or external rotation.

An International Consensus Survey among Pediatric Surgeons on the Role of Appendectomy in Malrotation.

Introduction: Ladd's procedure, originally described in 1936 for the treatment of malrotation, does not traditionally include appendectomy as a standard step. We conducted a multinational survey to investigate the current consensus on the role of appendectomy in Ladd's procedure. Methodology: An anonymous online survey was distributed to pediatric surgeons worldwide. The survey collected demographic data and explored surgical preferences related to the management of malrotation. Open-ended questions were used to assess the opinions regarding the necessity of appendectomy, decision-making factors, and complications associated with appendectomy during Ladd's procedure. Results: A total of 343 responses were received from 46 countries. Of the respondents, 319 (93%) were consultants and 24 (7%) were residents/trainees. When asked about the choice between open and laparoscopic Ladd's procedure, 292 (85%) preferred open surgery. Overall, 184 (53%) respondents favored appendectomy in both open and laparoscopic Ladd's procedure. Furthermore, 172 (50%) surgeons advocated for appendectomy in all malrotation cases, citing concerns about potential future appendicitis. While differences existed between all comparisons, none of them reached statistical significance. The factors influencing the decision to preserve the appendix included the risk of postoperative complications and the potential future use of the appendix as a surgical conduit. The surgical complications following appendectomy included surgical site infections in 14 (33%) patients, adhesive obstruction in 13 (31%) patients, intrabdominal abscesses in 10 (24%) patients, and fecal fistulas in 5 (12%) patients. Conclusion: The majority of surgeons aim to perform appendectomy in all malrotation cases, considering the potential risks and benefits of this approach. These findings offer valuable insights for clinical practice and may inform future guidelines and decision-making algorithms.

Description of new sign of integral (∫) for rotational deformity of distal femur.

PURPOSE: Femur shaft fractures commonly occur due to high velocity trauma and most of them are fixed with nailing. Malrotation is common after fixation. A rotational malalignment more than 30° is a deformity which requires correction. Various techniques described for rotational deformities are: the 'cable techniques' for the determination of varus-valgus malalignment; the 'hyperextension test', 'radiographic recurvatum sign', 'tibial plateau sign', and 'meterstick technique' for length analysis; and the 'hip rotation test', 'lesser trochanter shape sign', 'cortical step sign', and 'diameter difference sign' for rotational analysis. We describe integration sign at the medial or lateral aspect of notch of femur in fixed internal or external rotation due to condensation of trabeculae. METHODS: This is a prospective observational study. Informed consent was taken, and this study was approved by institutional review board. C arm imaging study of 50 knees was done at our institution in which rotational profile of distal femur was analyzed In 3 different views -AP , Internal and external rotation views. The rotation views were taken sequentially and each observer was asked to identify the sign at its appearance and at rotation when it was best seen. All the observers were asked to draw the sign on linear line diagram of distal femur. The data was analysed statistically. RESULTS: Sign of integral (∫) for rotational deformity was seen at Mean external rotation of  22±1.71 with a range of 19 degree to 25 degree and  Mean internal rotation of 15.78±1.21 with a range of 14 degree to 18 degree. CONCLUSION: The integration sign can be used as intraoperative C arm sign to understand the rotational deformity of distal fragment of femur. This helps the surgeon to understand the alignment and revise if needed intraoperatively. If combined with position of lesser trochanter, this will give alignment for both proximal as well as distal fragment of femur.

Laparoscopic Ladd's procedure for intestinal malrotation in small infants with midterm follow-up.

BACKGROUND: The objective of this study was to evaluate the safety and efficacy of laparoscopic Ladd's procedure (LL) for intestinal malrotation (IM) in small infants. METHODS: All patients aged < 6 months with IM who underwent Ladd's procedures between January 2012 and December 2019 were enrolled. The perioperative demographics and midterm follow-up results were retrospectively reviewed and compared between patients who underwent LL and open Ladd's operation (OL). RESULTS: Fifty-five patients were enrolled for analysis. The baseline characteristics were well matched in the two groups. The rate of volvulus was similar in the two groups (76.2% vs. 73.5%, P = 0.81). Two cases in the LL group were converted to OL due to intraoperative bleeding and intestinal swelling. The operative time (ORT) was not significantly different between the two groups (73.8 ± 18.7 vs. 66.8 ± 11.6 min, P = 0.76). Compared to the OL group, the LL group had a shorter time full feed (TFF) (3.1 ± 1.2 vs. 7.3 ± 1.9 days, P = 0.03) and a shorter postoperative hospital stay (PHS) than the OL group (5.5 ± 1.6 vs. 11.3 ± 2.7 days, P = 0.02). The rate of postoperative complications was similar in the two groups (9.5% vs. 11.8%, P = 0.47). The LL group had a lower rate of adhesive obstruction than the OL group, but the difference was not significant (0.0% vs. 11.8%, P = 0.09). One patient suffered recurrence in the LL group, while 0 patients suffered recurrence in the OL group (4.8% vs. 0.0%, P = 0.07). The rate of reoperation in the two groups was similar (4.8% vs. 8.8%). CONCLUSIONS: The LL procedure for IM in small infants was a safe and reliable method that had a satisfactory cosmetic appearance and shorter TFF and PHS than OL.

Upper gastrointestinal series in healthy neonates with bilious vomiting-is it still obvious? A retrospective observational study.

AIM: Demand for upper gastrointestinal contrast series (UGI) to investigate bilious vomiting (BV) has increased in recent years, mostly due to greater awareness of the need to rule out malrotation and midgut volvulus (MGV). We aimed to examine predictive value of clinical parameters in the management of healthy neonates presenting with BV and re-assess the role of UGI in their management. METHODS: A retrospective cohort study including medical, imaging and surgical data of neonates who underwent UGI due to BV. RESULTS: A total of 157 term neonates, eight neonates (5.1%) had confirmed surgical diagnosis of malrotation, five of them had malrotation with MGV, including two neonates who underwent extensive intestinal resection due to necrosis. Neonates with a combination of abnormal plain radiograph and abdominal distention had 10 times higher odds of malrotation diagnosis, adjusting for age at first BV (p = 0.017). Neonates with a combination of abnormal plain radiograph, abdominal distention and abdominal tenderness had 25 times higher odds of MGV (p = 0.002). CONCLUSION: This study reaffirms the role of UGI as the current main diagnostic tool for malrotation and MGV. Physical examination and plain radiograph findings can help but cannot substitute UGI study.

Radiological and surgical correlation of pelviureteric junction obstruction in positional anomalies of the kidney in children.

Pelviureteric junction obstruction, also known as ureteropelvic junction obstruction, is a congenital narrowing of the urinary excretory tract at the junction between the renal pelvis and the ureter and is a common cause of congenital pelvicalyceal dilatation. The outcome is variable, from spontaneous resolution to renal parenchymal function loss in cases of untreated high-grade obstruction. Abnormalities in renal ascent, rotation and vascularity can be associated with pelviureteric junction obstruction and easily overlooked radiologically. In this pictorial review, we explore the anatomical, radiological and surgical correlations of pelviureteric junction obstruction in the context of a normal kidney and a spectrum of renal abnormalities, including hyper-rotation (also known as renal malrotation), failed renal ascent, fusion anomalies and accessory crossing renal vessels. For each scenario, we provide technical tips on how to identify the altered anatomy at the first ultrasound assessment and correlation with scintigraphic, cross-sectional and postoperative imaging where appropriate. A detailed ultrasound protocol specifically to assess and characterise pelviureteric junction obstruction in paediatric patients is also offered.

Appendectomy as part of Ladd's procedure: a systematic review and survey analysis.

BACKGROUND: Ladd's Procedure has been the surgical intervention of choice in the management of congenital intestinal malrotation for the past century. Historically, the procedure included performing an appendectomy to prevent future misdiagnosis of appendicitis, since the location of the appendix will be shifted to the left side of the abdomen. This study consists of two parts. A review of the available literature on appendectomy as part of Ladd's procedure and then a survey sent to pediatric surgeons about their approach (to remove the appendix or not) while performing a Ladd's procedure and the clinical reasoning behind their approach. METHODS: The study consists of 2 parts: (1) a systematic review was performed to extract articles that fulfill the inclusion criteria; (2) a short online survey was designed and sent by email to 168 pediatric surgeons. The questions in the survey were centered on whether a surgeon performs an appendectomy as part of the Ladd's procedure or not, as well as their reasoning behind either choice. RESULTS: The literature search yielded five articles, the data from the available literature are inconsistent with performing appendectomy as part of Ladd's procedure. The challenge of leaving the appendix in place has been briefly described with minimal to no focus on the clinical reasoning. The survey demonstrated that 102 responses were received (60% response rate). Ninety pediatric surgeons stated performing an appendectomy as part of the procedure (88%). Only 12% of pediatric surgeons are not performing appendectomy during Ladd's procedure. CONCLUSION: It is difficult to implement a modification in a successful procedure like Ladd's procedure. The majority of pediatric surgeons perform an appendectomy as part of its original description. This study has identified gaps in the literature pertaining to analyze the outcomes of performing Ladd's procedure without an appendectomy which should be explored in future research.

Predictive factors of bowel resection for midgut volvulus based on an analysis of bi-center experiences in southern Japan.

PURPOSE: Midgut volvulus is an urgent disease often occurring in neonates. This study clarified the clinical features of midgut volvulus and evaluated predictors to avoid bowel resection. METHODS: This bi-center retrospective study enrolled 48 patients who underwent surgery for intestinal malrotation between 2010 and 2022. Patients' background characteristics and preoperative imaging findings were reviewed. RESULTS: Midgut volvulus was recognized in 32 patients (66.7%), and 6 (12.5%) underwent bowel resection. Based on a receiver operating curve analysis of bowel resection, the cut-off value of the body weight at birth and at operation were 1984 g [area under the curve (AUC) 0.75, 95% confidence interval (CI) 0.52-0.99] and 2418 g (AUC 0.70, 95% CI 0.46-0.94), respectively. The cut-off value of intestinal torsion was 540° (AUC 0.76, 95% CI 0.57-0.95), and that of the time from the onset to the diagnosis was 12 h (AUC 0.85, 95% CI 0.72-0.98). For midgut volvulus with an intestinal torsion > 540°, the most sensitive preoperative imaging test was ultrasonography (75%) Patients with bloody stool tended to undergo bowel resection. CONCLUSIONS: Patients with a low body weight and bloody stool should be confirmed to have whirlpool sign by ultrasonography and scheduled for surgery as soon as possible.

The IgSF Cell Adhesion Protein CLMP and Congenital Short Bowel Syndrome (CSBS).

The immunoglobulin-like cell adhesion molecule CLMP is a member of the CAR family of cell adhesion proteins and is implicated in human congenital short-bowel syndrome (CSBS). CSBS is a rare but very severe disease for which no cure is currently available. In this review, we compare data from human CSBS patients and a mouse knockout model. These data indicate that CSBS is characterized by a defect in intestinal elongation during embryonic development and impaired peristalsis. The latter is driven by uncoordinated calcium signaling via gap junctions, which is linked to a reduction in connexin43 and 45 levels in the circumferential smooth muscle layer of the intestine. Furthermore, we discuss how mutations in the CLMP gene affect other organs and tissues, including the ureter. Here, the absence of CLMP produces a severe bilateral hydronephrosis-also caused by a reduced level of connexin43 and associated uncoordinated calcium signaling via gap junctions.

Failure modes in malrotated total knee replacement.

PURPOSE: Achieving normal rotational alignment of both components in total knee arthroplasty (TKA) is essential for improved knee survivorship and function. However, malrotation is a known complication resulting in higher revision rates. Understanding malrotation of the components and its concomitant clinical and functional outcomes are important for early diagnosis and management. The purpose of this study was to evaluate the effect of malrotation on clinical outcomes and failure modes in both single and combined rotational malalignment. METHODS: From our hospital database of 364 revisions, a cohort of 76 knees with patellar maltracking, stiffness, reduced range of motion and early aseptic failure were reviewed and investigated for component malrotation using computed tomography following Berger protocol. CT findings confirmed component malrotation in 70 of these patients. Investigations included (1) measurement of femoral component malrotation using surgical transepicondylar axis, (2) measurement of tibial component malrotation using anteroposterior axis and (3) measurement of combined component rotational errors. RESULTS: The correlation of CT analysis and clinical outcomes after primary TKA revealed association of patellar maltracking with femoral internal rotation, pain and instability with tibial internal rotation and knee stiffness in patients with combined component malrotation as the commonest mode of presentation. Our study showed that patients with isolated femoral, tibial and combined malrotation presented at a mean period of 3.4 ± 1.34, 1.7 ± 0.8 and 2.3 ± 0.69 years, respectively, after the index surgery. Post-revision, the mean Knee Society Score and Oxford Knee Score improved from 29.1 to 78.7, and 10.5 to 32.8, respectively, and the mean range of motion improved from 74.9 ± 24.8 to 97.1 ± 12.7 degrees at a mean follow-up of 42 months. CONCLUSION: Early detection of malrotation in TKA and its management with revision of both components can lead to better clinical and functional outcomes. LEVEL OF EVIDENCE: III.

A rare case of intestinal malrotation in pregnancy resulting in hemicolectomy postnatally.

INTRODUCTION: Small and large bowel obstruction secondary to volvulus on the background of intestinal malrotation is a very rare occurrence, especially in pregnancy. This can be associated with significant feto-maternal morbidity and mortality. CASE REPORT: We report a case of a pregnant lady who developed symptoms of subacute intestinal obstruction during the 2nd trimester of pregnancy and was subsequently dia-gnosed with intestinal malrotation on imaging. Though she had symptoms of abdominal pain and constipation persisting for 9 long weeks during pregnancy, there was no evidence of definite intestinal obstruction or volvulus on her abdominal magnetic resonance imaging. She underwent a caesarean section at 34 weeks of pregnancy due to worsening abdominal pain. Postnatally, she was dia-gnosed with midgut volvulus on a computer tomography scan, leading to obstruction of both small and large bowels and needed an emergency laparotomy and right hemicolectomy. CONCLUSION: The case highlights the importance of timely dia-gnosis and prompt management of intestinal obstruction in pregnancy with a multidisciplinary team approach.

Prenatal Detection of Vesico-Allantoic Cyst: Ultrasound and Autopsy Findings.

Introduction: The vesico-allantoic cyst is a communication between the fetal bladder and the allantois through a patent urachus.Case Report: We describe a 17-week of gestational age (WGA) fetus with a 40 x 30 mm vesico-allantoic cyst. At 19 WGA, ultrasound (US) detected bilateral dilatation of renal pelvis (5-6 mm), hydroureters, and hypospadias. Amniotic fluid, umbilical cord flow, and fetal biometry were regular. Due to uncertain prognosis, the parents opted for legal termination of pregnancy. Autopsy confirmed the prenatal findings, also revealing intestinal malrotation and Meckel's diverticulum.Discussion/Conclusion: Probably an initial urinary tract obstruction occurred, not yet affecting the amniotic fluid volume, but evident as pyelectasis. This case highlights the possibility that genito-urinary and intestinal anomalies may be found in association with the vesico-allantoic cyst.

Delayed Presentation of Malrotation: Case Series and Literature Review.

Background: Intestinal malrotation is a congenital anomaly resulting from abnormal or incomplete rotation and fixation of the midgut during embryogenesis. It commonly presents in the neonatal period (75%) with sudden onset bilious vomiting and rarely beyond infancy (<10%). Aim: The aim of the study was to highlight the clinical features, radiological findings, and treatment outcomes of patients with malrotation presenting beyond infancy. Materials and Methods: Eleven consecutive cases of delayed presentation of malrotation presented over a period of 5 years (2017-2021). Data were analyzed retrospectively. Results: Out of the 11 patients, four were female and seven were male. The age of patients ranged from 14 months to 18 years. Patients beyond infancy present usually with diffuse pain abdomen compared to neonates which present with sudden onset bilious vomiting and therefore difficult to diagnose. Five patients had associated abnormalities such as intussusception or nutcracker syndrome or mesenteric cyst or jejunal stricture or mesenteric lymphadenopathy along with malrotation. Patients underwent ultrasonography, upper gastrointestinal contrast study, and contrast-enhanced computed tomography abdomen to confirm the diagnosis. All patients underwent the Ladd procedure with four requiring resection anastomosis and one requiring excision of the mesenteric cyst. Eight out of eleven patients had favorable outcomes, two develop adhesive intestinal obstruction and required re-exploration, and one had persistent complaints of hematochezia. Conclusion: Malrotation beyond infancy is a rare diagnosis. Malrotation in older children is usually not suspected because of the wide range of symptoms. A high index of suspicion on ultrasound or computed tomography is required to demonstrate the reversal of superior mesenteric artery and superior mesenteric vein position and related conditions. Early intervention and treatment can prevent catastrophic events such as intestinal volvulus and intestinal ischemia in these patients.