Fraser syndrome with limb reduction defect: a rare and unique anatomic variation.

INTRODUCTION: Fraser syndrome, named after George Fraser, is an autosomal recessive disorder showing a highly variable interfamilial phenotypic variation, with malformations ranging from minor symptoms to lethal anomalies like renal agenesis, incompatible with survival. Limb reduction defects have not been reported to be associated with it. CASE PRESENTATION: A 21-year-old primigravida presented to the antenatal outpatient department with a level two targeted anomaly scan report suggestive of severe oligohydramnios with suspected renal agenesis. The cranial vault bones were compressed, and orbital globes and lenses could not be visualized. Renal agenesis was confirmed due to sleeping adrenals sign, non-visualization of the urinary bladder, and Doppler of renal arteries. A detailed examination of the fetal head in the sagittal section showed the absence of an eye globe and lens, arousing suspicion of Fraser syndrome. After pregnancy termination, a complete fetal autopsy was done to look for any additional findings. CONCLUSION: Patients who have a syndromic mix of acrofacial and urogenital abnormalities with or without cryptophthalmos should be evaluated for Fraser syndrome, which can be diagnosed by clinical examination and perinatal autopsy.

Urorectal Septum Malformation Sequence With Retroperitoneal Neuroblastoma: A Case Report of an Unusual Association.

Urorectal septum malformation sequence (URSMS) is an uncommon disease characterized by a failure of the anorectal septum to divide the cloaca and fuse with the cloacal membrane. Complete URSMS is usually lethal in newborn due to severe renal dysfunction and pulmonary hypoplasia. Partial URSMS is compatible with life with a single perineal opening draining a common cloaca with an imperforate anus which amenable to surgical management. Antenatal diagnosis of URSMS is challenging because of multisystem, complex abnormalities involving gastrointestinal, urogenital tract, cardiovascular, and musculoskeletal systems. In this case report, we describe a 15-week male fetus with partial URSMS having a spectrum of multisystem structural anomalies associated with fetal neuroblastoma in retroperitoneal location and adrenal neuroblastoma in situ.

An Unusual Case of Xanthoma of Bilateral Achilles Tendon with Gouty Infiltration: A Rare Case Report.

Achilles tendon xanthoma is a benign and rare disease with a high incidence in patients having familial hypercholesterolemia. Patients present with or without pain and thickened tendons. Gout is seen in patients with hyperuricemia. Coexistence of xanthoma and gout is extremely rare. We searched the PubMed literature with 'Xanthoma' and 'Gout' as keywords and could find only one case report. Imaging modalities such as radiography and ultrasonography, play a vital role in diagnosing this condition early, hence helping the patient to commence the use of potentially lifesaving lipid-lowering therapeutic agents. Magnetic resonance imaging is helpful in delineating the morphological changes, exact measurements, and eventually in treatment planning. It helps to rule out early involvement of other tendons by the same pathology. We present a case of a 25-year-old male patient who presented to our institute with bilateral large symmetrical swelling in the posterior aspects of ankles for 4 years, with normal serum and blood parameters. Bilaterality, enormous size and normal blood and serum parameters make this case unique.

The role of diffusion-weighted imaging in the evaluation of adnexal lesions.

Purpose: Magnetic resonance imaging (MRI) has been used as a problem-solving tool in the diagnosis of adnexal lesions. Both benign and malignant ovarian masses can present as complex adnexal lesions. Preoperative diagnosis of malignancy is essential for planning the surgical approach and appropriate treatment regimen. The aim of our study was to determine the role of diffusion-weighted MRI (DWI) in differentiating benign from malignant adnexal lesions. Material and methods: Fifty-five patients (constituting 67 lesions) referred to MRI for evaluation of adnexal lesions were studied using 1.5 T MRI. The signal on DWI (qualitative) and ADC values (quantitative DWI) of the solid and cystic components of the lesions were analysed separately. Chi-square test, cross tabulation, and ROC curves were used to determine features on DWI that could distinguish benign from malignant lesions. Results: Of the 67 lesions, 50 were benign and 17 were malignant. There was a significant association of hyperintense signal of solid components on T2W and DWI with malignancy, with a p-value of 0.003 and 0.001, respectively. Benign lesions showed hypointense signal on T2W and DWI. ADC values of the solid components could not distinguish benign from malignant lesions; p = 0.290. The signal intensity and ADC values of the cystic fluid in benign and malignant lesions showed a significant overlap. Conclusions: Qualitative DWI acts as an adjunct to conventional MRI in differentiating benign from malignant adnexal lesions showing solid/mixed morphology. It plays no role in distinguishing lesions based on their cystic components. ADC values play no role in differentiating benign from malignant adnexal lesions irrespective of lesion morphology.

Efficacy of Pulsatility Index of Fetal Vessels in Predicting Adverse Perinatal Outcomes in Fetuses with Growth Restriction - Differences in Early- and Late-Onset Fetal Growth Restriction.

Background:Doppler ultrasound of fetal vessels plays an important role in diagnosing fetal growth restriction (FGR). It also aids in early detection of fetal compromise and clinical decision making. Aim: To determine the efficacy of the pulsatility index (PI) of the fetal umbilical artery (UA) and middle cerebral artery (MCA) in the third trimester of pregnancy for predicting adverse perinatal outcomes in the growth restricted fetuses. To study the differences in Doppler profiles in early- and late FGR (EFGR and LFGR, respectively) and their association with adverse outcomes. Materials and methods:The study was approved by the Institute's Ethical Committee. Informed consent was taken from study participants. Eighty singleton pregnancies in the third trimester, which had been diagnosed with FGR, were studied. The UA and MCA Doppler PI and cerebroplacental ratio (CPR) (ratios of PI of MCA/UA) as well as perinatal outcomes were recorded. Adverse perinatal outcomes included perinatal death, hypoxia, seizures, respiratory distress, prolonged Neonatal Intensive Care Unit (NICU) stay, and low Apgar scores at one minute and five minutes. Statistical association of PI with adverse outcomes and differences in Doppler profiles of EFGR and LFGR were studied. Results:Abnormal pulsatility in fetal vessels was associated with adverse perinatal outcomes. The UA PI was the most sensitive (66%) and CPR the most specific parameter (80%) for predicting adverse perinatal outcomes. Absent or reversal of diastolic flow in UA was associated with adverse perinatal outcomes in 75% and 40% of cases, respectively. The UA PI was the most sensitive parameter in both EFGR (70%) and LFGR (66%) and specific Doppler parameter in EFGR (75%). However, CPR and MCA PI were the most specific (89%) and diagnostically accurate in LFGR (79%). Conclusion:The UA PI is the most sensitive Doppler parameter for predicting adverse perinatal outcomes. Cerebroplacental ratio has a high specificity and accuracy and is an important parameter in LFGR cases.

COVID-19 Pandemic: An Indian radiologist' perspective.

During the COVID-19 pandemic, differences in health-care system and policies among countries worldwide meant that each country had to come up with their own strategies for containment, diagnosis, and treatment of the disease - "no one size fits all." India being the second populous country in the world with modern and traditional systems of health care has its own challenges to face during the pandemic. Among the increased cacophony of information regarding the COVID-19 disease and controversies surrounding the usage of various radiological modalities for its diagnosis, we are trying to present a sane perspective from an Indian radiologist viewpoint. Knowing the strengths and shortcomings of the Indian health-care system, we have suggested plausible solutions which may be the answers to the issues raised by the Indian media.

Extraarticular Synovial Osteochondromatosis in Baker's Cysts Bilaterally: a Rare Presentation.

Synovial osteochondromatosis is a rare benign pathology arising from the synovial membrane of the joints, synovial sheaths or uncommonly the bursae around the joints. Baker's cysts are fluid filled, synovium-lined lesions arising in popliteal fossa. Synovial chondromatosis involving the Baker`s cyst is extremely rare. The aim of this case report is to document this exceedingly rare extra articular synovial pathology involving Baker's cysts of bilateral knees and to emphasize the importance of radiographs and sonography in the diagnosis.

Familial Acute Necrotizing Encephalopathy: Evidence From Next Generation Sequencing of Digenic Inheritance.

Infection-induced acute encephalopathies (IIAEs) are a group of neurologic disorders caused post infection. They are of 8 types, 6 of which are herpes specific, whereas IIAE3 and IIAE4 can be triggered by infections additional to herpeslike influenza, enterovirus, etc. IIAE3 is also known as acute necrotizing encephalopathy type 1, which is a rare type of encephalopathy that occurs following an infection in infancy or early childhood. Symptoms include fever, cough, congestion, vomiting, and diarrhea followed by seizures, hallucination, ataxia, and abnormal muscle tone, and sometimes it leads to untimely death. Here, we describe a familial case where 3 siblings were clinically diagnosed with acute necrotizing encephalopathy 1. Genetic testing revealed 2 heterozygous variations: RANBP2 c.5249C>G, p.P1750 R, and CPT2 c.365C>T, p.S122F. Variants in RANBP2 and CPT2 have been individually known to be associated with IIAE3 and IIAE4, respectively. Segregation analysis revealed that the RANBP2 variant was inherited from the father and the CPT2 variant from the mother. This case qualifies to be the first of its kind where digenic inheritance (ie, DNA sequence variants in 2 genes are required for the pathogenic phenotypes) appears to cause a lethal class of acute necrotizing encephalopathy.