Skeletal dysplasias are not uncommon entities and a radiologist is likely to encounter a suspected case of dysplasia in his practice. The correct and early diagnosis of dysplasia is important for management of complications and for future genetic counselling. While there is an exhaustive classification system on dysplasias, it is important to be familiar with the radiological features of common dysplasias. In this article, we enumerate a radiographic approach to skeletal dysplasias, describe the essential as well as differentiating features of common non-lethal skeletal dysplasias and conclude by presenting working algorithms to either definitively diagnose a particular dysplasia or suggest the most likely differential diagnoses to the referring clinician and thus direct further workup of the patient.
Thus, prevalence of IFI is very high in children with persistent febrile neutropenia who are not on antifungal prophylaxis. Abnormal chest x- ray and clinical sinusitis are important predictors of IFI.
The thymus is a lymphatic organ that undergoes dynamic changes with age and disease. It is important to be familiar with these physiological changes in the thymus gland to be able to identify pathology and make an accurate diagnosis. The thymus may be involved in multisystem disorders or show focal isolated lesions. The aim of this article is to review the radiological anatomy of the thymus, normal variants, and pathology including hyperplasia and benign/malignant lesions involving the thymus gland in the pediatric age group. We also propose an algorithmic approach for imaging evaluation of a suspected thymic mass on the basis of morphologic features.
Asparagine synthetase deficiency is a rare inborn error of metabolism caused by a defect in ASNS, a gene encoding asparagine synthetase. It manifests with a severe neurological phenotype manifesting as severe developmental delay, congenital microcephaly, spasticity and refractory seizures. To date, nineteen patients from twelve unrelated families have been identified. Majority of the mutations are missense and nonsense mutations in homozygous or compound heterozygous state. We add another case from India which harbored a novel homozygous missense variation in exon 11 and compare the current case with previously reported cases.
Visceral artery aneurysms (VAAs) include aneurysms of the splanchnic circulation and those of the renal artery. Their diagnosis is clinically important because of the associated high mortality and potential complications. Splenic, superior mesenteric, gastroduodenal, hepatic and renal arteries are some of the common arteries affected by VAAs. Though surgical resection and anastomosis still remains the treatment of choice in some of the cases, especially cases involving the proximal arteries, increasingly endovascular treatment is being used for more distal vessels. We present a pictorial review of various intra-abdominal VAAs and their endovascular management.
Imaging a patient having a cardiac arrest on the examination table is not a common occurrence. Altered hemodynamics resulting from pump failure causes stasis of blood in the dependent organs of the body, which is manifested on imaging by dependent contrast pooling and layering. Often a patient with imminent cardiogenic shock also shows a similar dependent contrast pooling and layering, which is a marker of the worsening clinical condition. We report the contrast-enhanced CT scan features in four cases, two of whom had cardiac arrest during imaging, while the other two developed cardiogenic shock soon after the examination. Dependent contrast pooling and layering were found in all of them, with faint or no opacification of the left cardiac chambers. Contrast pooling was noted in the dependent lumbar veins, hepatic veins, hepatic parenchyma, and the right renal vein, as well as in the dependent part of the IVC and the right heart chambers.
Simultaneous integrated boost with accelerated hypofractionated whole breast radiotherapy using Volumetric Modulated Arc Therapy is a novel approach. Patient selection and technical considerations are of paramount importance. The present study describes successful implementation of this approach.
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