Noemi Perlmutter

Kashin–Beck Osteoarthropathy in Rural Tibet in Relation to Selenium and Iodine Status

BACKGROUND AND METHODS Kashin-Beck disease is a degenerative osteoarticular disorder that is endemic to certain areas of Tibet, where selenium deficiency is also endemic. Because selenium is involved in thyroid hormone metabolism, we studied the relation among the serum selenium concentration, thyroid function, and Kashin-Beck disease in 575 subjects 5 to 15 years of age in 12 villages around Lhasa, Tibet, including 1 control village in which no subject had Kashin-Beck disease. Clinical, radiologic, and biochemical data were collected. RESULTS Among the 575 subjects, 280 (49 percent) had Kashin-Beck disease, 267 (46 percent) had goiter, and 7 (1 percent) had cretinism. Of the 557 subjects in whom urinary iodine was measured, 66 percent had a urinary iodine concentration of less than 2 microg per deciliter (157 nmol per liter; normal, 5 to 25 microg per deciliter [394 to 1968 nmol per liter]). The mean urinary iodine concentration was lower in subjects with Kashin-Beck disease than in control subjects (1.2 vs. 1.8 microg per deciliter [94 vs. 142 nmol per liter], P<0.001) and hypothyroidism was more frequent (23 percent vs. 4 percent, P=0.01). Severe selenium deficiency was documented in all villages; 38 percent of subjects had serum concentrations of less than 5 ng per milliliter (64 nmol per liter; normal, 60 to 105 ng per milliliter [762 to 1334 nmol per liter]). When age and sex were controlled for in a multivariate analysis, low urinary iodine, high serum thyrotropin, and low serum thyroxine-binding globulin values were associated with an increased risk of Kashin-Beck disease, but a low serum selenium concentration was not. CONCLUSIONS In areas where severe selenium deficiency is endemic, iodine deficiency is a risk factor for Kashin-Beck disease.

Neonatal tuberous sclerosis. US, CT, and MR diagnosis of brain and cardiac lesions.

Cortical, subcortical and subependymal tubers were more completely and more clearly depicted by MR than by CT and US in a 3-week-old infant. These lesions were best shown on T1-weighted images as areas of high signal intensity.

Mapping of normal brain maturation in infants on phase-sensitive inversion-recovery MR images

SummaryIt is illustrated that phase-sensitive inversion-recovery MR images are particularly well suited for the monitoring of brain maturation and myelination in the neonate and young infant. Provided appropriate timings are applied with the inversion-recovery MR pulse sequence, the myelinated areas show up as bright spots in the phase-sensitive images. The chronology of the appearance, and the location of these hyperintense zones correlate well with the chronology of brain maturation, as assessed by other means. In particular, the progressive functional capabilities of the infant correlate well with the progress of myelination, as exhibited by the MR images.

Association of a fetus in fetu and two teratomas: US and MRI

Abstract We report a case of an abdominal mass in a newborn girl containing a fetus in fetu and two teratomas. Obstetrical sonography revealed the abnormality at 28 weeks of gestation. Post-natal US examination suggested the diagnosis of a fetus in fetu upon the finding of a vertebral column and fetal skeletal bones. US also showed two other rounded masses connected to the main lesion by vascular bundles. Preoperative MRI examination supplied further information regarding tissue composition and vascularisation of the mass lesion. The diagnosis was confirmed by pathological examination. Aetiological factors and radiological diagnosis of this rare tumour are reviewed and discussed.

Idiopathic infantile arterial calcification: a surviving patient with renal artery stenosis.

Idiopathic infantile arterial calcification (IIAC) is a rare hereditary, fatal disease. Death occurs usually within the first 28 months of life. IIAC is characterized by calcifications along the internal elastic membrane and proliferation of the intimal layer of muscular arteries. Specific therapy consists of administration of diphosphonates, but its effectiveness has been a matter of controversy. We report a case treated with diphosphonates which has had an unusual outcome.

MRI in seven cases of Rathke's cleft cyst in infants and children.

Seven MRI observations of presumed Rathkes cleft cysts in infants and children are reported. Age ranged between 6 months and 13 years. Size of the cysts ranged between 4 and 20 mm. While 3 small cysts were detected incidentally, 4 were large enough to cause symptoms secondary to compression of the pituitary gland and suprasellar components. The MRI appearance of the Rathkes cleft cysts varied according to their nature. MRI provides a major contribution to the diagnosis of these lesions; nevertheless, it often remains difficult to differentiate complex Rathkes cleft cysts from cystic craniopharyngiomas. The difficulties related to this differentiation are discussed.

Bilateral congenital absence of the internal carotid artery with a primitive transmaxillary arterial anastomosis

We report a case of congenital, bilateral absence of the internal carotid artery accompanied by a complex anastomotic plexus arising from the right maxillary artery, a terminal branch of the external carotid artery. We present the clinical features and the radiological diagnostic evidence which consisted of ultrasonography, brain CT and MRI, conventional angiography and skull base CT scan. We review the literature pertaining to this congenital anomaly and correlate embryology of the carotid arteries to this unusual type of collateral circulation.

Gaucher's disease : plain radiography, US, CT and MR diagnosis of lungs, bone and liver lesions

We report our observations made by conventional radiography, ultrasound, computerized tomography (CT), and magnetic resonance imaging (MRI) on a 31/2-year-old girl with Gauchers disease. The interest of the case consists in the exceptional lungs involvement, the demonstration by MRI of the bone marrow involvement and the necrosis and fibrosis of the liver, as shown by CT. This liver complication has been previously reported only once.

Early MR detection of cortical and subcortical hypoxic-ischemic encephalopathy in full-term-infants

Four observations illustrate the potential of MR imaging in the early depiction of multiple types of neuropathologic lesions which may coexist in the fullterm newborn, upon severe hypoxic-ischemic encephalopathy (HIE). In particular, diffuse, postnatal involvement of cerebral cortex and subcortical white matter (WM) is demonstrated. Cortical hyperintensity on both proton-density- and T1-weighted images is probably related to cellular necrosis which is distributed diffusely or parasagittally. Hyperintense, frontal, subcortical WM edging on proton-density-weighted images results from the increase of water concentration, induced either by infarct or by edema. Diffuse WM areas of low intensity on T1-weighted images and of high intensity on T2-weighted images are presumably related to cytotoxic and/or vasogenic edema, proportional to the underlying damaged tissues. On follow-up MR examinations, several months later, the importance of cortical atrophy and of the myelination delay appeared related to the importance of the lesions detected during the postnatal period.

Clinical evaluation of gadodiamide injection in paediatric MR imaging

The safety and efficacy of intravenous gadodiamide injection, 0.1 mmol/kg body weight, have been evaluated in an open label, noncomparative as to drug, phase III clinical trial in 50 children from 6 months to 13 years of age, referred for MRI requiring the injection of a contrast medium. The central nervous system and other body areas were examined with T1 sequences before and after intravenous injection of the contrast medium. Overall safety was very good and no clinically relevant changes were evident as regards heart rate and venous blood oxygen saturation after injection. No adverse event or discomfort was experienced by conscious patients that could with certainty be related to the contrast medium, but slight movements were observed in two sedated patients that could be related to the injection. Comparing pre- and post-injection images, additional diagnostic information could be obtained from the latter in 41 patients (82 %). In these images, the number of lesions detected increased and they were generally better delineated and their size more easily estimated. The results of this trial indicate that gadodiamide injection is safe and effective for MRI examinations in children.