Spectrum of fetal limb anomalies.

PURPOSE: Antenatal detection of limb anomalies is not uncommon, and pregnancies are usually terminated in view of the expected physical handicap. The aim of this retrospective observational study is to delineate the spectrum of fetal limb anomalies and provide evidence in support of complete postnatal evaluation in establishing recurrence risk. METHODS: We present 54 cases of limb malformations detected antenatally and discuss the spectrum of abnormalities, the utility of fetal autopsy, and genetic testing to establish recurrence risk in subsequent pregnancies. RESULTS: 16/54 cases were isolated radial ray anomalies. There were five cases of amniotic band syndrome, five limb body wall complex cases, three VACTERL (vertebral defects, anal atresia, cardiac defects, tracheo-esophageal fistula, renal anomalies, and limb abnormalities) associations, one case of sirenomelia, two cases of limb pelvis hypoplasia, and one case of OEIS (Omphalocele Exstrophy Imperforate anus and spinal defects). Four fetuses with non-isolated radial ray anomaly had trisomy 18. One case with bilateral radial ray defect had a mutation in the FANC-E gene confirming fanconi anemia. Twelve cases were unclassified. CONCLUSION: Autopsy is the most important investigation in fetuses with limb anomalies. We suggest chromosomal microarray (CMA) as a first-tier test after autopsy. However, in cases of bilaterally symmetrical limb anomalies, in case of previous similarly affected child, or history of consanguinity, whole exome sequencing (WES) can be offered as the primary investigation, followed by CMA if WES is normal.

Spontaneous compartment syndrome of the upper arm in a patient receiving anticoagulation therapy.

BACKGROUND: Compartment syndrome is a condition in which elevated pressures within an osseofascial compartment cause vascular compromise, leading to ischemia and possible necrosis. It commonly occurs after a traumatic event (e.g., fracture, crush, burn); however, compartment syndrome can happen spontaneously and in any compartment of the body. The objective of this case study is to present the signs and symptoms of upper arm compartment syndrome along with a review of the diagnosis and treatment. CASE REPORT: A 75-year-old man receiving anticoagulation for atrial fibrillation developed compartment syndrome in the extensor compartment of his upper arm, diagnosed by clinical examination with the aid of a venous duplex ultrasound study. CONCLUSION: Although uncommon, spontaneous compartment syndrome can occur, and prompt recognition and intervention are limb- and possibly life-saving.

Hypotension is uncommon in patients presenting to the emergency department with non-traumatic cardiac tamponade.

BACKGROUND: Cardiac tamponade is a life-threatening disease in which hypotension is believed to be a common finding. Prior inpatient studies have described normotensive or hypertensive cases of tamponade; however, because the data were not collected from the Emergency Department (ED), the hemodynamic spectrum may differ from those presenting to the ED. OBJECTIVES: We hypothesized that hypotension is uncommon in patients presenting to the ED with non-traumatic tamponade. METHODS: A retrospective chart review was conducted between January 2002 and December 2007 of patients presenting to our ED who were subsequently diagnosed with cardiac tamponade. RESULTS: A total of 34 patients were identified with a diagnosis of tamponade. The mean blood pressure on ED arrival was 131/79mm Hg. Upon initial presentation to the ED, 35% (n=12) of patients were hypertensive, 50% (n=17) were normotensive, and 15% (n=5) were hypotensive. Of the 5 patients who were hypotensive on ED arrival, only 2 (6% of all patients) remained hypotensive upon admission to the hospital and before a pericardiocentesis. An average of 995mL of fluid was removed from the pericardium. The chief complaint for the majority of patients in tamponade was shortness of breath (70%); 59% were tachycardic in the ED, and 72% had cardiomegaly on chest X-ray study. CONCLUSIONS: Hypotension is uncommon in patients presenting to the ED with non-traumatic cardiac tamponade. The majority of patients are normotensive or even hypertensive. Thus, the emergency physician should not exclude the diagnosis of tamponade even in light of normotension or hypertension.

Primary Osseous Low-grade Myxofibrosarcoma of Metatarsal Masquerading as Enchondroma: A Case Report.

Introduction: Low-grade myxofibrosarcoma (LGMFS) is a neoplasm of soft tissues. According to the World Health Organization, LGMFS is a malignant myofibroblastic tumor arising from deep soft tissues with potential for recurrence and late metastatic spread. The incidence estimates are 0.18/million, accounting for 0.6% of all soft-tissue sarcomas. It can directly invade the bone and metastasize to bone; however, primary osseous low-grade myxofibrosarcoma is a rare entity. Thus, recognizing atypical presentations of uncommon neoplasms are a pertinent skill for the radiologist due to significant implications for management. Case Report: A 40-year-old male with complaints of midfoot pain was referred to radiology department for imaging. Radiographs of the foot showed a lytic mildly expansile lesion in the first metacarpal with wide zone of transition and no sclerotic margin or matrix calcification. Magnetic resource imaging (MRI) and computed tomography (CT) examination demonstrated well defined lobulated lesion which appeared heterogeneously hyperintense on T2W images with cortical breach, extraosseous soft-tissue component, and early rapid progressive enhancement. The radiological diagnosis of enchondroma with pathological fracture was considered. Atypical findings of early progressive enhancement and extraosseous soft-tissue component were, however, incongruous with enchondroma and possibility of an aggressive/malignant etiology was also considered. Hence, the lesion was biopsied and diagnosis of LGMFS was made and subsequently confirmed on excised specimen. Follow-up CT scan post 6 months of surgical resection demonstrated no recurrence. Conclusion: Primary osseous LGMFS is a rare entity and radiologically mimics enchondromas. Both LGMFS and enchondromas show T2W hyperintensity. MRI features that distinguish LGMFS from enchondroma include low apparent diffusion coefficient values and slow progressive enhancement in dynamic contrast-enhanced MRI.

Coracoid Process-A Hub of Shoulder Ligaments.

Coracoid process is a hook-like structure connected with multiple ligaments. The complexity and its close relations often create confusion. The aim of this study is to identify the ligaments attached to the coracoid process as discrete structures on 3T magnetic resonance imaging (MRI) scans. This is a retrospective observational study. One-hundred twenty MRI shoulder studies performed during November and December 2019 at Dept of Radiology, Deenanath Mangeshkar Hospital, Pune, were evaluated. These were obtained on 3T MRI (Siemens, Pennsylvania, United States) machine. All scans were evaluated by two experienced musculoskeletal radiologists. The ligaments studied were coracohumeral (CHL), coracoclavicular (CCL), coracoacromial (CAL), and coracoglenoid (CGL) ligaments. Mean age of cohort was 56.3 years with 59.2% males and 56.2% right shoulder studies. Pain was the main presenting symptom (49%) followed by instability (35%). Reader 1 identified CHL in 106 out of 120 and reader 2 identified 108 out of 120 on all 3 planes. Substantial interobserver agreement (κ =0.65) was noted for sagittal T1 and proton density fat saturated (PDFS) sequences. Both readers could identify CCL and CAL ligaments in all three sequences with better confidence on nonfat saturated sagittal images. Reader 1 identified CGL in 9 on axial and 12 on sagittal images among 120 cases. Reader 2 identified CGL in 13 on axial and 16 on sagittal images among 120 cases. With a κ = 0.702 for the axial PDFS and κ = 0.72 for sagittal T1 and PDFS sequence, substantial interobserver agreement was noted. Sagittal images were better in the evaluation of CGL. Identifying ligaments attached to coracoid on MRI helps in managing associated pathological states.

Isolated congenital absence of bilateral femur: A rare case report with antenatal diagnosis and postnatal follow-up.

We report a rare case of isolated congenital absence of the bilateral femur diagnosed antenatally in an 18-19 weeks fetus on a level II scan. The bilateral femur bones were not visualized with normal bilateral tibia and fibula. The fetus was followed with a routine growth scan at 32-33 weeks along with a fetal MRI, which showed similar findings. The antenatal findings were confirmed clinically as well as with a postnatal follow-up X-Ray (infantogram) of the baby. Trio whole-exome sequencing was performed for the child as well as both the parents, which did not reveal any clinically significant variant that could explain the patient's phenotype.

Foreign Body Induced Osteomyelitis in the Hand - Commonly Missed Clinical and Radiological Diagnosis.

Introduction: Thorn prick is commonly seen in people that are involved in gardening. In some cases, they are unaware of the precedent thorn prick or present for medical attention quite late and forget about the history of thorn prick. In such cases, it is challenging for the clinicians and the radiologist to rule out the cause of the osteomyelitis caused by an unrecognized foreign body. Case Report: A 14-year-old girl presented with a swelling of the hand and discharging sinuses with a radiographic picture of osteomyelitis of the 5th metacarpal. The CT and MRI showed features consistent with osteomyelitis as well, possibly tuberculous in etiology. Even after the completion of AKT (anti-tubercular treatment), the patient continued to have discharging sinuses out of which a plant thorn spontaneously egressed, and subsequently, the patient was completely relieved of her symptoms. Retrospective evaluation of the MRI showed the presence of a foreign body that was hyperdense on CT and was initially thought to be a sequestrum. Conclusion: Hence, even though a definite history of trauma/thorn prick is not given (although highly unusual in the case of hand), an organic foreign body should be considered in the etiologic differential diagnosis of non-responding chronic osteomyelitis and discharging sinuses.