Rajagopal Kadavigere

A homozygous nonsense variant in IFT52 is associated with a human skeletal ciliopathy

Intraflagellar transport (IFT) is vital for the functioning of primary cilia. Defects in several components of IFT complexes cause a spectrum of ciliopathies with variable involvement of skeleton, brain, eyes, ectoderm and kidneys. We examined a child from a consanguineous family who had short stature, narrow thorax, short hands and feet, postaxial polydactyly of hands, pigmentary retinopathy, small teeth and skeletal dysplasia. The clinical phenotype of the child shows significant overlap with cranioectodermal dysplasia type I (Sensenbrenner syndrome). Whole‐exome sequencing revealed a homozygous nonsense variant p.R142* in IFT52 encoding an IFT‐B core complex protein as the probable cause of her condition. This is the first report of a human disease associated with IFT52.

Utility of serum pancreatic enzyme levels in diagnosing blunt trauma to the pancreas: a prospective study with systematic review.

INTRODUCTION Reliability of serum pancreatic enzyme levels in predicting pancreatic injuries has been a parameter of interest and the present recommendations on its utility are based primarily on anecdotal observations. The aim of this study was to evaluate the utility of serum pancreatic enzyme assessment in predicting blunt pancreatic injury with imaging and surgical correlation and compare our results with a systematic review of literature till date. METHODS A prospective cohort study conducted over 4 years in a tertiary care referral centre with 164 consecutive patients who presented to the emergency department with a history of blunt abdominal trauma and had serum pancreatic enzyme assessment, USG and subsequent diagnostic CECT were analyzed. The CT findings and AAST grade of pancreatic injury, various intra-abdominal injuries and time elapsed since injury and other associated factors were correlated with serum pancreatic enzyme levels. For systematic review of literature MEDLINE database was searched between 1940 and 2012, also the related citations and bibliographies of relevant articles were analyzed and 40 articles were included for review. We compared our results with the systematic critique of literature till date to formulate recommendations. RESULTS 33(21%) patients had pancreatic injury documented on CT and were graded according to AAST. Statistically significant elevated serum amylase levels were observed in patients with pancreatic and bowel injuries. However, elevated serum lipase was observed specifically in patients with pancreatic injury with or without bowel injury. Combined serum amylase and lipase showed 100% specificity, 85% sensitivity in predicting pancreatic injury. Elevated (n=28, 85%) vs. normal (n=5, 15%) serum amylase and lipase levels showed sole statistically significant association with time elapse since injury to admission, with a cutoff of 3h. CONCLUSIONS Based on our results and the systematic review of the literature till date we conclude, persistently elevated or rising combined estimation of serum amylase and lipase levels are reliable indicators of pancreatic injury and is time dependent, nondiagnostic within 6h or less after trauma. In resource constrained countries where CT is not available everywhere it may support a clinical suspicion of pancreatic injury and can be reliable and cost-effective as a screening tool.

Clinical utility of fetal autopsy and its impact on genetic counseling.

We aimed to analyze the utility of fetal autopsy in terms of its contribution to establishing a definitive diagnosis and its impact on genetic counseling.

Doppler evaluation of ocular vessels in patients with primary open angle glaucoma

To assess ocular blood flow in patients with primary open angle glaucoma (POAG) with or without progressive visual field loss in comparison with controls.

Fetal Akinesia Deformation Sequence: Expanding the Phenotypic Spectrum

We report on two unrelated fetuses born to nonconsanguineous couples with fetal akinesia deformation sequence (FADS). The fetuses shared facial features, micrognathia, fetal finger pads, bulbous digital tips, pterygia, clubfeet, ventriculomegaly, and cerebellar anomalies. Both had loss/absence of Purkinje cells in cerebellum. The first family had a similarly affected previous pregnancy suggesting an autosomal recessive inheritance. The second fetus, in addition to the findings in the first, had cleft palate and defective lobulation of lungs. These fetuses appear to have the Pena–Shokeir phenotype (PSP) or FADS. These two cases seem to define a newly recognizable subtype of FADS with bulbous digital tips, prominent digit pads and cerebellar anomalies, and highlight the phenotypic diversity of syndromes with multiple congenital contractures manifesting in utero.

Dialysis Disequilibrium Syndrome presenting as a focal neurological deficit

We report a patient suffering from chronic kidney disease who presented to us with severe pulmonary edema. His clinical, laboratory, and sonological parameters were suggestive of end‐stage renal disease. Hemodialysis was initiated, and after 48 hours (3 sessions of hemodialysis) he became drowsy and a neurological examination revealed left upper limb monoplegia with left facial palsy. Urgent computerized tomography scan of the brain revealed diffuse hypodensity in the cerebral white matter bilaterally, and brain magnetic resonance imaging showed diffuse hyperintensity in the cerebral white matter bilaterally, right internal capsule and external capsule on fluid attenuated inversion recovery and T2 sequences (hypointense on T1 sequence). He made a gradual but complete neurological recovery and was discharged 2 weeks later with normal neurological status. A repeat brain magnetic resonance imaging on follow‐up 6 weeks later revealed complete resolution of the white matter abnormalities.

Idiopathic granulomatous mastitis: a diagnostic dilemma for the breast radiologist

BackgroundIdiopathic granulomatous mastitis is a chronic inflammatory disease of the breast, which is often difficult to differentiate both clinically and radiologically from infectious aetiologies such as tuberculosis, fungal infections, and also from malignancy, thus posing a diagnostic dilemma. We present a pictorial review of the commonly encountered imaging findings in idiopathic granulomatous mastitis on mammography and ultrasound.Materials and methodsMammographic and ultrasound findings of histopathologically proven cases of granulomatous mastitis are discussed.ConclusionIdiopathic granulomatous mastitis has varied and non-specific appearances on ultrasound and mammography. Histopathology is essential to establish diagnosis.Teaching Points• Idiopathic granulomatous mastitis often poses a diagnostic dilemma for the radiologist by mimicking malignancy.• It has varied and non-specific appearances on mammography and ultrasound.• Histopathology is mandatory to establish the diagnosis and decide management.

Morel-Lavallee Lesion (MLL) Mimicking A Soft Tissue Neoplasm.

Morel-lavallee lesion (MLL) represents post traumatic subcutaneous cyst generally overlying bony prominences like greater trochanter, lower back, knee and scapula. A 51-year-old man presented with a swelling in left thigh since six years which was insidious in onset, gradually progressive in size and not associated with pain, fever or discharge. There was no history of trauma or any associated constitutional symptoms. Since there was no history of trauma recalled by the patient the clinical dilemma was between soft tissue sarcoma and cold abscess. We report a case of slow growing painless mass lesion of thigh, diagnosed on Magnetic Resonance Imaging (MRI) as morel lavallee lesion and describe its salient imaging features with treatment options.

Spectrum of Imaging Findings in Paget's Disease of the Breast-A Pictorial Review.

AbstractPurposeWe aimed to demonstrate imaging features of Paget’s disease of breast, which is an extremely uncommon malignancy that presents with changes in the nipple-areolar region that may or may not be associated with an underlying in situ component or invasive cancer.Methods and ResultsMammography is the initial investigation of choice, having a high sensitivity especially in cases where a palpable mass is present. The addition of ultrasound improves the accuracy of mammography. When both mammography and ultrasound are negative, MRI may detect an underlying mass or ductal carcinoma in situ (DCIS).ConclusionThe surgical management of Paget’s disease includes mastectomy with or without axillary dissection, though breast conservation surgery in the form of wide local excision can also be done in a selected group of patients. Management should be based on both clinical and imaging findings, including mammography and ultrasound, with MRI playing a crucial role in defining the extent of involvement. Teaching Points • To differentiate Paget’s disease from other chronic skin conditions. • Mammographic and ultrasound findings of histopathologically established Paget’s disease. • When ultrasound and mammogram are negative, MRI may detect underlying malignancy.

Abdominal cocoon secondary to disseminated tuberculosis

Abdominal cocoon, also known as sclerosing encapsulating peritonitis, represents a rare entity where a variable length of the small bowel is enveloped by a fibrocollagenous membrane giving the appearance of a cocoon. It may be asymptomatic and is often diagnosed incidentally at laparotomy. We present a rare case of abdominal cocoon due to abdominal tuberculosis.