Introduction: We present one of the largest case series of Macrodystrophia lipomatosa, a rare congenital disorder of localized gigantism characterized by overgrowth of all the mesenchymal elements, predominantly involving the fibroadipose tissue. Aims: To detail the radiological features, pattern of distribution, associated conditions and to suggest an appropriate terminology to describe the condition. Methods and Material: It is a retrospective study. Data from PACS server dating from 2000 and 2018 was used. The cases with isolated enlarged limb or digit/digits with or without nerve involvement were included in the study. Statistical Analysis Used: Frequency and percentage were used for analysis of categorical variables. Results: A total of 31 cases was included for the final analysis, out of which 19 were males and 12 were females. Unilateral limb involvement was seen in 30 cases. The most common pattern identified was the ’nerve territory oriented’ type in 28 cases confined to the hand or foot, ’diffuse or pure lipomatous’ type in one case and mixed type was seen in two cases. The most common nerve territory involved was along the median nerve in the upper limb and along the medial plantar nerve in the lower limb. Neural involvement was seen in 16 cases of the upper limb and 10 cases of the lower limb. Syndactyly was seen in two cases, polydactyly in one case and symphalangism in one case. Conclusions: A diagnosis of macrodystrophia lipomatosa can be confidently made in cases with congenital isolated limb or digit/digits enlargement with or without fibrolipohamartoma of nerve. Radiographs and ultrasound are sufficient along with clinical examination to make accurate diagnosis. MRI is useful for assessing the extent and for planning surgery.
Context: Krabbe disease shows considerable heterogeneity in clinical features and disease progression. Imaging phenotypes are equally heterogeneous but show distinct age-based patterns. It is important for radiologists to be familiar with the imaging spectrum to substantially contribute toward early diagnosis, prognostication, and therapeutic decisions. Aims: The study aims to describe different magnetic resonance imaging (MRI) patterns observed in a cohort of children with Krabbe disease and to assess correlation with age-based clinical phenotypes. Materials and Methods: This is a retrospective descriptive study done at the Departments of Radiodiagnosis and Neurological Sciences of our institution, a tertiary care hospital in Southern India. Imaging features of children diagnosed with Krabbe disease over a 10-year period (2009–2018) were collected and analyzed. Results: A total of 38 MRI brain studies from 27 patients were analyzed. Four distinct MRI patterns were recognizable among the different clinical subtypes. All patients from the early and late infantile group showed deep cerebral and cerebellar white matter and dentate hilum involvement. Optic nerve thickening was, however, more common in the former group. Adult-onset subtype showed isolated involvement of corticospinal tract, posterior periventricular white matter, and callosal splenium with the absence of other supra- and infra-tentorial findings. Juvenile subgroup showed heterogeneous mixed pattern with 78% showing adult subtype pattern and 22% showing patchy involvement of deep cerebral white matter with dentate hilum signal changes. Conclusion: Krabbe disease shows distinct imaging features which correspond to different clinical age-based subtypes. This article reemphasizes these distinct imaging phenotypes, highlights a novel imaging appearance in juvenile Krabbe, and also alludes to the rare variant of saposin deficiency. Awareness of these patterns is essential in suggesting the appropriate diagnosis and guiding conclusive diagnostic workup. Large multicenter longitudinal studies are needed to further define the role of imaging in predicting the clinical course and thus to guide therapeutic options.
Aim:The aim of our study was to evaluate the computed tomography (CT) imaging features of splenic artery aneurysm and pseudoaneurysm and to identify the disease conditions related to the same. We also wanted to ascertain any relationship between these associated disease conditions and the imaging features of the aneurysms.Materials and Methods:This retrospective study included patients diagnosed to have splenic artery aneurysms on contrast-enhanced CT examination between January 2001 and January 2016. Data were obtained from the picture archiving and communication system. The size, number, location, morphology, the presence of thrombosis, calcification, and rupture of the aneurysms were evaluated.Results:A total of 45 patients were identified with a mean age of 45 years. Splenic artery aneurysms were idiopathic in 12 (26.6%) patients. In the remaining patients, the main associated disease conditions included pancreatitis 15 (33%), chronic liver disease with portal hypertension 8 (18%), and extrahepatic portal vein obstruction (EHPVO) 6 (13%). Statistically significant findings included the relationship between EHPVO and multiple aneurysms (P = 0.002), chronic liver disease and fusiform aneurysm (P = 0.008), and smaller size of idiopathic aneurysms (P < 0.001).Conclusion:Based on this study, splenic artery aneurysms were associated with a variety of etiologies. The characteristics of the aneurysms such as size, location, and morphology vary with the associated disease conditions. These variations may have implications for the management.
Chemoembolization was an effective and safe treatment in Child A and early Child B patients. Factors that had adverse effect on survival were Child class B, larger tumor size, presence of portal vein thrombosis and metastasis, and high baseline alpha-fetoprotein levels.
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