ABSTRACT
Familial Partial Lipodystrophy, Dunnigan type (FPLD), is characterised by loss of subcutaneous fat from the limbs and an excessive accumulation of fat on the neck, shoulder girdle and face. Affected individuals have insulin resistance, dyslipidaemia and early cardiovascular events. Body composition (BC) with details of adipose tissue distribution were studied by Dual-Energy X-ray Absorptiometry (DEXA) and Magnetic Resonance Imaging (MRI) ina heterozygote for the FPLD mutation LMNA R482W, and in an age, sex and body mass index (BMI) matched normal control. DEXA revealed a marked decrease in total as well as regional fat percentage in the patient compared to a normal control. Marked reductions in subcutaneous fat in the extremities with substantial lipodeposition in the nape of the neck were confirmed with. MRI. The importance of increased perinephric, retroperitoneal and intermuscular fat in the thighs found in this patient, needs to be explored vis-à-vis the pathogenesis of insulin resistance found in FPLD.
Subject(s)
Absorptiometry, Photon , Adult , Body Composition , Diabetes Mellitus, Lipoatrophic/pathology , Female , Humans , Magnetic Resonance ImagingABSTRACT
The purpose of this report is to highlight the utility of prenatal MRI as an adjunctive imaging modality in the diagnosis and prognosis of Tuberous Sclerosis (TS) (Bourneville's disease). We report a case of TS detected in utero at 30 weeks gestation. A routine ultrasonography at 26 weeks in a 28-year-old primigravida was followed by an ultrafast MRI examination at 30 weeks gestation. Ultrasound raised the possibility of TS based on the detection of multiple cardiac rhabdomyomas. Fetal MRI, subsequently performed, showed the presence of cortical tubers and subependymal nodules establishing the diagnosis. Fetal MRI in the appropriate clinical setting can be potentially invaluable and can have important prognostic implications.
Subject(s)
Adult , Autopsy , Fatal Outcome , Female , Humans , Magnetic Resonance Imaging , Pregnancy , Prenatal Diagnosis , Tuberous Sclerosis/diagnosisSubject(s)
Abortion, Induced , Adult , Female , Humans , Magnetic Resonance Imaging , Pregnancy , Prenatal Diagnosis , Twins, Conjoined/pathologyABSTRACT
Symmetrical mediatinal lipomatosis is a rare benign condition characterized by deposition of a large amount of mature adipose tissue within the mediastinum. Usually secondary to exogenous obesity, administration of steroids and Cushing's disease, it is more common in middle-aged males and is associated with alcohol abuse. Various other associations have been reported. CT and MRI can decisively diagnose this benign condition, which also helps in deciding treatment options. We present a case of a young female with a bizarre appearance on chest radiographs. Isolated, bilaterally symmetrical mediastinal lipomatosis was diagnosed on CT and MRI. The patient was thin and did not consume alcohol or steroids. Cushing's disease and other known associations were excluded.
Subject(s)
Adult , Age Factors , Female , Humans , Lipomatosis/diagnosis , Magnetic Resonance Imaging , Male , Mediastinal Diseases/diagnosis , Middle Aged , Radiography, Thoracic , Risk Factors , Sex Factors , Tomography, X-Ray ComputedABSTRACT
Although bilateral optic nerve gliomas are commonly found in patients with neurofibromatosis I, extensive gliomas involving the entire visual tracts, bilaterally are relatively rare. Usually the optic radiations are spared. We report a case of a 2-year-old child with extensive disease of bilateral visual pathways with involvement of the hypothalamus manifesting as obesity.