NDUFV1-Related Mitochondrial Complex-1 Disorders: A Retrospective Case Series and Literature Review.

BACKGROUND: Pathogenic variants in the NDUFV1 gene disrupt mitochondrial complex I, leading to neuroregression with leukoencephalopathy and basal ganglia involvement on neuroimaging. This study aims to provide a concise review on NDUFV1-related disorders while adding the largest cohort from a single center to the existing literature. METHODS: We retrospectively collected genetically proven cases of NDUFV1 pathogenic variants from our center over the last decade and explored reported instances in existing literature. Magnetic resonance imaging (MRI) patterns observed in these patients were split into three types-Leigh (putamen, basal ganglia, thalamus, and brainstem involvement), mitochondrial leukodystrophy (ML) (cerebral white matter involvement with cystic cavitations), and mixed (both). RESULTS: Analysis included 44 children (seven from our center and 37 from literature). The most prevalent comorbidities were hypertonia, ocular abnormalities, feeding issues, and hypotonia at onset. Children with the Leigh-type MRI pattern exhibited significantly higher rates of breathing difficulties, whereas those with a mixed phenotype had a higher prevalence of dystonia. The c.1156C>T variant in exon 8 of the NDUFV1 gene was the most common variant among individuals of Asian ethnicity and is predominantly associated with irritability and dystonia. Seizures and Leigh pattern of MRI of the brain was found to be less commonly associated with this variant. Higher rate of mortality was observed in children with Leigh-type pattern on brain MRI and those who did not receive mitochondrial cocktail. CONCLUSIONS: MRI phenotyping might help predict outcome. Appropriate and timely treatment with mitochondrial cocktail may reduce the probability of death and may positively impact the long-term outcomes, regardless of the genetic variant or age of onset.

Disseminated phaeohyphomycosis due to Cladophialophora bantiana in an immunocompetent child.

A 3-year-old boy presented with acute headache, vomiting and right focal clonic seizures without history of fever, joint pain or altered sensorium. Neuroimaging showed multifocal contrast enhancing lesions with significant perilesional edema. CECT chest and abdomen showed multiple variable sized nodules in the lungs and hypodense lesion in liver with mesenteric lymphadenopathy. There was persistent eosinophilia with maximum upto 35 %. Liver biopsy and brain biopsy revealed Cladophialophora bantiana. He was treated with IV liposomal amphotericin and voriconazole for 6 weeks with repeat neuroimaging showing more than 50 % resolution of the intracranial lesions. He was transitioned to oral combination of flucytosine and voriconazole. At 14 months follow-up, he remained symptom free with complete radiological resolution of the lesions and no eosinophilia. High suspicion, an aggressive approach in obtaining microbiological diagnosis and timely combination antifungal therapy may give satisfactory outcome without surgery.

Minimally invasive autopsy in the evaluation of fetal malformations and stillbirths: A feasibility study.

BACKGROUND: Minimally invasive autopsy (MIA) using post-mortem magnetic resonance imaging with ancillary investigations is reported as accurate as conventional autopsy. This study assesses MIA's feasibility and accuracy compared to conventional autopsy. METHOD: MIA and/or conventional autopsy were performed on malformed fetuses (14-20 weeks gestation) and stillbirths (>20 weeks gestation), with/without malformation. Concordance in diagnostic accuracy (95% confidence interval [CI]) and agreement (Kappa coefficient [k]) were assessed in malformed cases where both MIA and autopsy were conducted. RESULTS: We enrolled 200 cases, including 100 malformed fetuses (<20 weeks) and 100 stillbirths (with/without malformations). Concordance of 97.3% was observed between MIA and autopsy in 156 malformed cases. The overall diagnostic accuracy of MIA was 96.04%. CONCLUSION: While conventional autopsy remains the gold standard, MIA is feasible in tertiary care settings. It can be considered a potential alternative for post-mortem assessment, particularly in settings with limited facility of conventional autopsy and parental refusal.

Incident Breakthrough Seizures, Serum Matrix Metalloproteinase-9 and Perfusion Magnetic Resonance Imaging Parameters in a Cohort of Children and Adolescents With Neurocysticercosis: A Longitudinal Observational Study.

BACKGROUND: The current study estimated incident breakthrough seizures, serum matrix metalloproteinase-9 (MMP-9), and perfusion magnetic resonance imaging (MRI) parameters in five- to 18-year-olds with neurocysticercosis (NCC) from colloidal or vesicular through calcified stages over at least 24 months' follow-up. METHODS: Single, colloidal, or vesicular parenchymal NCC cases were treated with albendazole and steroids and followed at a tertiary care north Indian hospital. Serum MMP-9 was estimated in colloidal or vesicular treatment-naive state and in a subset of calcified cases at six-month follow-up. The same subset of calcified cases also underwent perfusion MRI of the brain at six-month follow-up. RESULTS: Among 70 cases, 70% calcified at six-month follow-up. Over a median follow-up of 30 months, the incidence of breakthrough seizures was 48.6% (61.2% in calcified and 19.2% in resolved, P = 0.001; 32.9% early [within six months] and 15.7% late [beyond six months], P = 0.02). Serum MMP-9 levels were higher in colloidal and vesicular compared with calcified stage (242.5 vs 159.8 ng/mL, P = 0.007); however, there was no significant association with breakthrough seizures and/or calcification in follow-up. In a subgroup of calcified cases (n = 31), the median relative cerebral blood volume on perfusion MRI in and around the lesion was lower in those with seizures (n = 12) than in those without (n = 19) (10.7 vs 25.2 mL/100 g, P = 0.05). CONCLUSIONS: In post-treatment colloidal or vesicular NCC, incident breakthrough seizures decrease beyond six months. In calcified NCC with remote breakthrough seizures, significant perilesional hypoperfusion is seen compared with those without seizures.

3D mapping: has the mystery of proximal tibia fractures been solved?

PURPOSE: One of the major limitations of the 2D fracture evaluation (Schatzker classification) is its failure to adequately assess fracture lines in the frontal plane and fracture displacement in the antero-posterior direction. 3D fracture line mapping includes steric assessment which can aid decision making with regards to the surgical approach and fixation scheme. We hypothesized that there are consistent fracture patterns and zones of comminution for proximal tibial fractures. METHODS: Radiographic data of 228 proximal tibia fractures were retrospectively included in this study. Fracture lines and zones of comminution were graphically superimposed onto a 3D template of an intact tibia after virtual reduction and normalization to identify major patterns of fracture and comminution. RESULTS: Out of 206 male and 21 female patients, 89 had a fracture of the lateral condyle only (Schatzker I and II), 53 involved the medial plateau only (Schatzker IV) and 86 had a high-grade fracture involving both the condyles (Schatzker V and VI). 64.5% of the fracture lines involving the medial plateau alone were in the coronal plane, and this number was even lesser (44.2%) in medial plateau involvement of bicondylar fractures. In bicondylar fractures, lines were usually not seen to pass directly through the posteromedial region. CONCLUSIONS: Medial tibial plateau fractures have a mix of coronal or sagittal fracture alignment. A clearer understanding of the 3D orientations of fractures based on CT scans can aid in diagnosing the pattern of fracture and adequate positioning of plates can be done to eventually improve operative outcomes.

Primary Hemophagocytic Lymphohistiocytosis With Prolonged Primary Neurologic Presentation.

Primary hemophagocytic lympho-histiocytosis (HLH) is a hyperinflammatory syndrome with devastating consequences. Multisystem involvement is a hallmark of HLH; however, HLH may rarely present with signs and symptoms isolated to the central nervous system (CNS). Within the brain, HLH can mimic demyelination, chronic infection, or vasculitis, leading to a diagnostic delay of months to years. We describe here a 7-year-old boy who presented with a history of prolonged fever and multiple focal neurologic deficits, which were being treated as CNS tuberculosis at the referring hospital. In view of the relapsing course with multiple areas of hemorrhagic tumefactive lesions on neuroimaging, the diagnosis was revised to acquired demyelination, and he received multiple cycles of immunotherapy. A brain biopsy was inconclusive. Subsequently, 13 months after disease onset, the child presented with features of systemic HLH in the form of fever, pancytopenia, splenomegaly, elevated ferritin, and triglycerides. Primary HLH was suspected, and genetic testing revealed a likely pathologic compound heterozygous variation in the PRF1 gene confirming the diagnosis. We planned a hematopoietic stem cell transplant as definitive therapy, but the child succumbed to an episode of sepsis and aspiration pneumonia. We infer from this case that primary HLH is a great mimicker. A high index of suspicion is required to establish a timely diagnosis. Primary HLH may stay isolated to CNS for months and should be considered in the differential diagnosis of all refractory cases of demyelination.

Acetabular Screw in Close Proximity to the Posterior Branch of the Internal Iliac Artery in Revision Hip Surgery with Intrapelvic Migration of Acetabular Component: Preoperative Placement of a Fogarty Catheter in the Internal Iliac Artery (Case Report).

Revision of an intrapelvic migration of the acetabular component of a total hip is a challenging surgery due to the risk of injury to the pelvic viscera. The primary concern is vascular injury due to the risk of mortality and limb loss. The researchers present one case where the acetabular screw was near the posterior branch of the internal iliac artery. A Fogarty catheter was placed in the internal iliac artery preoperatively, and the amount of fluid to inflate the catheter and completely block the artery was determined. The catheter was kept in a deflated condition. The hip reconstruction was performed, and there was no incidence of vascular injury during the procedure; hence, the Fogarty catheter was removed postsurgery. The placement of a Fogarty catheter in the at-risk vessel provides the freedom to proceed with the hip reconstruction through the standard approach. In case of an inadvertent event of a vascular injury, it can be inflated with the predetermined amount of saline to check the bleeding until the vascular surgeons take over the case.

Vascular anomalies: nomenclature, classification, and imaging algorithms.

There is a lot of ambiguity in the usage of correct terminology in the description of vascular malformations and tumors. Hemangioma and arteriovenous malformation (AVM) are the most commonly used terms and are the mostly incorrectly used as well! The aim of this review article was to lay out the correct nomenclature and describe the correct usage for the physicians and radiologists involved in diagnosing and managing these lesions. We describe the various classification systems which have been devised to define the multiple entities included under vascular anomalies. The latest classification system that should be adhered to is per the International Society for the Study of Vascular Anomalies, approved at the 20th ISSVA Workshop held in Melbourne in April 2014, last revised in May 2018. The main features of the latest revision have been highlighted. This classification, however, does not list the diagnostic clinico-radiological features for each entity. In addition, guidelines regarding the appropriate use of available imaging modalities are lacking in the literature. We, hereby, aim to address these pertinent issues in this review article.

Interest in curves: when the radius of curvature matters in femur fractures. A CT based morphometric study.

PURPOSE: In today's era, fractures of the femur are primarily managed with intramedullary devices. Keeping in mind the anatomical sagittal bow of the femur, intramedullary devices have been devised with an anterior bow, but this varies amongst various manufacturers - leading to complications such as anterior cortex impingement beyond the isthmus and posterior cortical opening at the fracture site. We intend to find the average radius of curvature (ROC) of the anatomical bow of the femur and the variation of the same. METHODS: Radiographic data of 150 normal femur scans done in 81 patients were loaded in the Mimics 21.0 software (Materialise, Leuven, Belgium). A centerline (of the medullary cavity) was created using the software. A best-fit circle was created in the sagittal plane involving a major part of the centerline, and ROC was calculated. RESULTS: We found the average ROC of our data was 1027.2, with a standard deviation of 241.55. ROC and length of the femur (an indirect measure of height) had a slight positive correlation (r = 0.36; p < 0.05); and a highly positive correlation in the ROC of the left and right femurs of the same individuals (r = 0.605; p < 0.05). CONCLUSIONS: The usual ROC of intramedullary nails is commonly > 1300 mm, much higher than the average ROC we identified in our population. Thus, we conclude that implants with smaller ROC in the range of 1100 mm are needed, leading to better implant placement in the canal and avoiding complications of anterior cortex impingement and preventing fracture gap widening in our setting.

Contrast-enhanced computed tomography abdomen versus diagnostic laparoscopy-based management in patients with penetrating abdominal trauma: a randomised controlled trial.

PURPOSE: Penetrating abdominal trauma was traditionally managed by mandatory exploration, which led to high rates of non-therapeutic surgery and prolonged hospital stay. Diagnostic laparoscopy (DL) is a less-invasive alternative; however, it requires general anaesthesia and carries a potential risk of iatrogenic injuries. Contrast-enhanced computed tomography (CECT)-guided selective non-operative management (SNOM) may avoid surgery altogether, but there is apprehension of missed injury. Randomised trials comparing these two modalities are lacking. This study is aimed at comparing outcomes of these two management approaches. METHODS: Hemodynamically stable patients with penetrating trauma to anterior abdominal wall were randomised in 1:1 ratio to DL or CECT-based management. Primary outcome was length of hospital stay (LOS). Secondary outcomes were rate of non-therapeutic surgery, complications, and length of intensive care unit (ICU) stay. RESULTS: There were 52 patients in DL group and 54 patients in CECT group. Mean LOS was comparable (3 vs 3.5 days; p = 0.423). Rate of non-therapeutic surgery was significantly lower in CECT group (65.4 vs 17.4%, p = 0.0001). Rate of complications and length of ICU stay were similar. Selective non-operative management based on CECT findings was successful in 93.8% of patients; 2 patients had delayed surgery. CONCLUSION: In patients with penetrating trauma to anterior abdominal wall, DL and CECT-based management led to comparable hospital stay. Significant reduction in non-therapeutic surgery could be achieved using a CECT-based approach. TRIAL REGISTRATION: Clinical trials registry-India (CTRI/2019/04/018721, REF/2019/01/023400).

Contrast enhanced ultrasound for characterization of suspected soft tissue vascular anomalies.

BACKGROUND: Evaluation of perfusion characteristics is the key to characterize vascular anomalies. Contrast-enhanced ultrasound (CEUS) is a radiation-free modality to evaluate this in real-time and can be coupled along with Doppler-ultrasound (US). OBJECTIVE: To evaluate the utility of CEUS in characterization of suspected soft-tissue vascular anomalies and compare its diagnostic accuracy with Doppler-US. MATERIALS AND METHODS: This was an ethically-approved cross-sectional study, done from November 2017- November 2019, involving 93 patients (55 M/38F; mean age 23.6 ± 11.9 years) in development cohort and 128 (66 M/62F; mean age 21.4 ± 11.1 years) in validation cohort. Patients suspected to have soft-tissue vascular anomalies on clinical evaluation and US were included. Clinical features, US, Doppler, subjective and quantitative CEUS features (from time-intensity curves) were evaluated. Composite gold standard employing MRI, phlebogram, DSA or biopsy was used to make the final diagnosis. The CEUS features found to be significantly different in the development cohort were prospectively validated in the validation cohort. P-value < 0.05 was considered significant, ROC curves were drawn and threshold values obtained for the various quantitative parameters. A prospective diagnosis was suggested in the validation group along with a degree of diagnostic confidence and accuracy was calculated. RESULTS: The spectrum of lesions included 77 venous malformations, 46 fibro-adipose vascular anomalies, 32 vascular tumors, 20 arteriovenous malformations and 20 lymphatic malformations. All lesions were found to have distinctive temporal and morphological subjective enhancement patterns. Quantitative parameters like rise-time, mean-transit-time, time-to-peak, peak-enhancement showed significant differences between the various groups (P value < 0.05). Addition of CEUS not only increased the diagnostic accuracy of Doppler-US from 76.5% (91/119) to 88.2% (105/119), but also the degree of diagnostic confidence in characterization of soft-tissue vascular anomalies. None of the patients showed any contrast-related adverse effects. CONCLUSION: Contrast-enhanced ultrasound is useful to characterize different types of soft-tissue vascular anomalies and increases the diagnostic accuracy and confidence over Doppler-ultrasound.

CT findings in renovascular injuries following abdominal trauma: a pictorial review.

Renal vascular injuries are more devastating than parenchymal injuries alone, thus account for higher injury grade and require prompt recognition. Revised AAST organ injury scale (OIS) for renal trauma has incorporated CT-diagnosed vascular injuries into renal injury grading which includes pseudoaneurysm and arteriovenous fistula, along with addition of some new descriptors of renovascular injury. Dual-phase contrast-enhanced CT (with both arterial and venous phase) can easily pick up renovascular injuries and is the modality of choice for imaging renovascular trauma. Radiologist should be well versed with the imaging findings of renovascular injuries so that accurate injury grading can be done and further management can be planned at the earliest.

Exocrine and endocrine functions and pancreatic volume in patients with pancreatic trauma.

INTRODUCTION: Injury to the pancreas may lead to significant morbidity and mortality. We aim to assess pancreatic endocrine and exocrine functions and evaluated morphological regenerations of pancreas following partial pancreatectomy in patients with pancreatic trauma. METHODS: The study was performed between June 2016 and December 2017. Endocrine functions were assessed at the time of admission and at 6 months follow-up with 75 g oral glucose tolerance test (OGTT), serum insulin and C-peptide levels and HbA1c estimation and exocrine functions were assessed with fecal elastase test. Pancreatic volumetry was done with imaging scan at 1 month and 6 months post discharge. RESULTS: Twenty patients were studied with a median age of 30 years (range18-48) at the time of injury. All the patients were normoglycemic on admission; only one patient who underwent pancreatic resection developed diabetes mellitus at follow-up. Eight patients (40%) were found to be prediabetic by American Diabetes Association (ADA) criteria. Eleven patients (55%) had pancreatic exocrine insufficiency. Pancreatic volume increment, from the mean pancreatic volume of 48.65 to 54.29 cm3, was noted in patients who underwent partial pancreatectomy. CONCLUSIONS: Patients with pancreatic trauma may develop biochemical endocrine and exocrine insufficiencies following pancreatic resection. Pancreatic volume increment requires further research in a larger study.

Kimura Disease: A Case Series and Systematic Review of Clinico-radiological Features.

Kimura disease is a rare chronic inflammatory disorder mostly reported in males in second to third decades from south-east Asia. Head and neck is the most commonly involved region. The usual presentation is painless facial swelling with salivary gland involvement and regional lymphadenopathy. The diagnosis can be suspected on imaging but needs to be proven on histopathology. We describe three histopathology proven cases of Kimura disease and emphasize the specific clinic-radiological findings which can help in early identification of the condition and its differentiation from other diseases with similar presentation. Gray scale Ultrasound, contrast-enhanced ultrasound, and contrast-enhanced Magnetic Resonance Imaging (CE-MRI) were done in all patients and Computed Tomography (CT) was done in one. The salient imaging features were ill-defined solid mass in the subcutaneous location of the facial region which was heteroechoic on Gray scale Ultrasound, heterogeneously hyperintense on T2W MRI and without much diffusion restriction. There was involvement of salivary glands with ipsilateral cervical adenopathy. The lesion showed avid contrast enhancement on contrast-enhanced ultrasound and CE-MRI. We also present a systematic literature review of clinico-radiological features in Kimura disease in the head and neck. The articles with histopathologically proven cases and satisfactory description of imaging findings were included and we have compared the findings in our cases with published literature. In addition, we have included examples of radiological mimics of this disease. Certain imaging findings are highly suggestive and can aid in early diagnosis of Kimura disease which helps in early initiation of treatment with better patient prognosis.