[TSH-secreting pituitary adenoma: 16 years follow-up].
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Adenoma↗
Biomedical subjects
N J Patronas
Publications and source records attributed to N J Patronas.
Do glucocorticoids cause spinal epidural lipomatosis? When endocrinology and spinal surgery meet.
Here, we report pathogenetic aspects of spinal epidural lipomatosis (SEL) based on a literature review. SEL is a rare entity but can cause significant morbidity. Its symptoms can be identical to those of more common disorders such as vertebral and disc disease, and cord lesions (for example, transverse myelitis, multiple sclerosis and syringomyelia). Therefore, it often goes undiagnosed. In addition, SEL occurs in patients on glucocorticoid therapy, which can lead to myopathy, thereby mimicking the motor symptoms of SEL. Glucocorticoids seem to play a major role in the development of SEL, although idiopathic SEL has also been reported. The latter occurs almost exclusively in obese individuals who may have concurrent hypercortisolism. Once clinically suspected, SEL is best diagnosed by magnetic resonance imaging (MRI). Treatment of SEL is directed at reducing body weight in patients with idiopathic SEL, and at decreasing glucocorticoid excess in patients with endogenous or exogenous hypercortisolism. In severe cases, decompressive laminectomy might become necessary to alleviate the neurological symptoms caused by spinal cord compression.
Epidural Space↗
Spinal epidural lipomatosis in a patient with the ectopic corticotropin syndrome.
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ACTH Syndrome, Ectopic↗
Edema associated with calcified lesions in neurocysticercosis.
OBJECTIVE: To determine serial MRI and CT abnormalities around calcified cysts due to cysticercosis in previously treated patients during periods of seizure activity. BACKGROUND: Some patients with calcified lesions due to cysticercosis have seizures. How and why seizures occur in this setting are unknown. METHODS: Three patients with known, treated cysticercosis were studied prospectively by serial MRI and CT before, during, and after seizure activity. RESULTS: All three patients demonstrated edema surrounding calcified lesions. Two of three patients had repeated episodes involving the same calcified lesions, and their symptoms corresponded to the location of the lesion. Enhancement was present in the lesions demonstrating edema, but was also present surrounding other nonsymptomatic calcified lesions. CONCLUSIONS: Perilesional edema surrounding calcified lesions due to cysticercosis occurs in some patients at the time of seizure activity. Repeated seizure episodes tend to be associated with the same lesions. Although the mechanisms involved are unknown, long-term antiseizure medication is likely indicated in these patients. Current evidence does not support the use of specific antiparasitic treatment in these patients.
Adult↗
Incidental findings on brain magnetic resonance imaging from 1000 asymptomatic volunteers.
CONTEXT: Previous reports have discussed incidental disease found on brain magnetic resonance imaging (MRI) scans that had been requested for an unrelated clinical concern or symptom, resulting in a selection bias for disease. However, the prevalence of unexpected abnormalities has not been studied in a healthy population. OBJECTIVE: To evaluate the prevalence of incidental findings on brain MRI scans obtained for a healthy, asymptomatic population without selection bias. DESIGN, SETTING, AND PARTICIPANTS: Retrospective analysis of brain MRI scans obtained between May 17, 1996, and July 25, 1997, from 1000 volunteers who participated as control subjects for various research protocols at the National Institutes of Health. All participants (age range, 3-83 years; 54.6% male) were determined to be healthy and asymptomatic by physician examination and participant history. MAIN OUTCOME MEASURE: Prevalence of abnormalities on brain MRI by category of finding (no referral necessary, routine referral, urgent referral [within 1 week of study], and immediate referral [within 1 to several days of study]). RESULTS: Eighty-two percent of the MRI results were normal. Of the 18% demonstrating incidental abnormal findings, 15.1% required no referral; 1.8%, routine referral; 1.1%, urgent referral; and 0%, immediate referral. In subjects grouped for urgent referral, 2 confirmed primary brain tumors (and a possible but unconfirmed third) were found, demonstrating a prevalence of at least 0.2%. CONCLUSION: Asymptomatic subjects present with a variety of abnormalities, providing valuable information on disease prevalence in a presumed healthy population. A small percentage of these findings require urgent medical attention and/or additional studies.
Adolescent↗
Bilateral condylar resorption in dermatomyositis: a case report.
Polymyositis is an inflammatory disease commonly affecting the striated muscle. When it is accompanied by characteristic skin lesions, the condition is called dermatomyositis. Bilateral condylar resorption has been reported with autoimmune conditions and chronic systemic steroids. We report the first documented case of bilateral condylar resorption in a patient with dermatomyositis. Possible etiologic factors and treatment outcomes are discussed.
Adult↗
Treatment of autoimmune premature ovarian failure.
There is no known immunosuppressive therapy for autoimmune premature ovarian failure that has been proven safe and effective by prospective randomized placebo-controlled study. Nevertheless, immunosuppression using corticosteroids has been used on an empirical basis for this condition. Here we present two cases of young women with premature ovarian failure who were treated with glucocorticoids in the hopes of restoring fertility. The first case illustrates the potential benefit of such therapy, and the second case illustrates a potential risk. The first patient with histologically proven autoimmune oophoritis was treated with alternate day glucocorticoid treatment. She had return of menstrual bleeding six times and ovulatory progesterone concentrations four times over a 16 week period. The second patient with presumed but unconfirmed autoimmune ovarian failure was referred to us after having been treated with a 9 month course of corticosteroids. During that treatment her menses did not resume. The corticosteroid treatment was complicated by iatrogenic Cushing syndrome and osteonecrosis of the knee. Identifying patients with autoimmune premature ovarian failure presents the opportunity to restore ovarian function by treating these patients with the proper immune modulation therapy. On the other hand, potent immune modulation therapy can have major complications. Corticosteroid therapy for autoimmune premature ovarian failure should be limited to use in placebo-controlled trials designed to evaluate the safety and efficacy of such treatment.
Adult↗
Cushing's disease presenting with avascular necrosis of the hip: an orthopedic emergency.
Nontraumatic avascular necrosis (AVN) of the hip is commonly caused by exogenous glucocorticoid administration, whereas it has rarely been associated with endogenous hypercortisolism. We report a 30-yr-old woman with Cushing's disease whose presenting manifestation was early AVN of the hip. Although plain x-ray was negative, magnetic resonance imaging (MRI) of the hip showed stage 2 AVN. Her orthopedic disease was considered an emergency, and thus, it was treated with core decompression before the diagnosis of Cushing's syndrome (CS) was pursued further. The femur recovered fully, as demonstrated by her improved clinical picture and a subsequent MRI. AVN carries a poor prognosis, if not treated early. The diagnostic procedure of choice is MRI, because plain radiographs are falsely negative in early stages. This case illustrates that AVN can be the presenting manifestation of CS; to prevent irreversible effects on the femoral head, core decompression should not be delayed for the purpose of evaluation and treatment of CS.
Adult↗
Pituitary involvement by Wegener's granulomatosis: a report of two cases.
We describe two cases of pituitary involvement by Wegener's granulomatosis. At initial presentation, or during subsequent disease "flares," a pattern of pituitary abnormality was suggested. During periods of remission, we found the pituitary returned to a nearly normal appearance. Loss of the normal posterior pituitary T1 hyper-intensity matched a clinical persistence of diabetes insipidus, suggesting there is permanent damage to this structure by the initial disease process.
Adolescent↗
Proton magnetic resonance spectroscopic imaging in the clinical evaluation of patients with Niemann-Pick type C disease.
OBJECTIVES: 10 patients with Niemann-Pick disease type C (NP-C) were studied by proton magnetic resonance spectroscopic imaging (1H-MRSI) to assess the biochemical pathology of the brain and to determine whether this method can be useful to clinically evaluate these patients. METHODS: 1H-MRSI permits the simultaneous measurement of N-acetyl aspartate (NA), compounds containing choline (Cho), creatine plus phosphocreatine (Cre), and lactate (Lac) signal intensities from four 15 mm slices divided into 0.84 ml single volume elements. Spectroscopic voxels were identified from seven regions of interest. RESULTS: In patients with NP-C, NA/Cre was significantly decreased in the frontal and parietal cortices, centrum semiovale, and caudate nucleus; Cho/Cre was significantly increased in the frontal cortex and centrum semiovale. Significant correlations were found between clinical staging scale scores and 1H-MRSI abnormalities. CONCLUSION: 1H-MRSI showed diffuse brain involvement in patients with NP-C consistent with the pathological features of the disease. 1H-MRSI is an objective and sensitive tool to neurologically evaluate patients with NP-C.
Adolescent↗
Juvenile idiopathic inflammatory myopathy: exercise-induced changes in muscle at short inversion time inversion-recovery MR imaging.
PURPOSE: To study the effect of exercise on short inversion time inversion-recovery (STIR) magnetic resonance (MR) images of thigh muscles in children with juvenile idiopathic inflammatory myopathy. MATERIALS AND METHODS: Thirty-two MR studies were performed in 19 patients with juvenile idiopathic inflammatory myopathy who performed stair-stepping exercise for up to 10 minutes (mean, 5.7 minutes). Baseline T1-weighted (n = 32) and STIR (n = 32) images and STIR images immediately (n = 32) and at 30 (n = 24) and 60 (n = 29) minutes after exercise were obtained at 0.5 T. Four radiologists graded STIR signal intensity changes, in observer performance experiments in which they were blinded to the order of image acquisition in relation to exercise. RESULTS: Changes in muscle signal intensity were observed on STIR images obtained immediately after exercise in 20 of 32 (63%) studies. The mean signal intensity score immediately after exercise (1.7 +/- 1.0 [SD]) increased compared with the mean baseline score (1.4 +/- 1.1) (P = .0005) and resolved by 30 minutes after exercise. The magnitude of exercise-induced changes correlated with the amount of work performed (r = 0.51, P = .003) but not with disease activity or baseline signal intensity when the changes were corrected for work (r < 0.17, P > .35). Radiologists demonstrated moderate to substantial agreement in the grading of signal intensity changes after exercise (kappa = 0.60-0.84). CONCLUSION: In patients with juvenile idiopathic inflammatory myopathy, stair-stepping exercise induces signal intensity changes on STIR MR studies of muscle for approximately 30 minutes after exercise, in a distribution that may mimic active muscle inflammation.
Adolescent↗
Quantitative analysis of cerebral vasculopathy in patients with Fabry disease.
OBJECTIVE: This study's purpose was to obtain a quantitative natural history of the cerebrovascular involvement in Fabry disease. BACKGROUND: Fabry disease is an X-linked recessive disorder due to alpha-galactosidase A deficiency. Progressive accumulation of ceramidetrihexoside within the intima and media of cerebral blood vessels causes ischemic lesions in the majority of affected patients. Determination of the natural history of the cerebral vasculopathy in Fabry disease is important to assess the effects of therapeutic intervention in this disorder. METHODS: A longitudinal MRI study of 50 patients who had a total of 129 MRI scans was performed. The burden of cerebrovascular disease was determined using direct linear measurement. RESULTS: On T2-weighted MRI scans, 32% of the patients had no lesions (mean age, 33 years), 16% had gray matter lesions only (mean age, 36 years), 26% had lesions in white matter only (mean age, 43 years), and 26% had lesions in white and gray matter (mean age, 47 years). Disease burden increased with age, but no patient younger than 26 had lesions on MRI. All patients older than 54 had cerebrovascular involvement. The distribution of MRI-detectable lesions was typical of a small-vessel disease. Only 37.5% of patients with cerebral lesions had neurologic symptoms. CONCLUSION: These findings provide a predictable outcome measure to assess the effect of molecular interventions on the cerebrovascular circulation in Fabry disease.
Adolescent↗
Mucolipidosis type IV: characteristic MRI findings.
OBJECTIVE: The objective of this study is to characterize the brain abnormalities on head MRI of patients with mucolipidosis type IV. BACKGROUND: Mucolipidosis type IV is an autosomal recessive lysosomal storage disease of unknown etiology. Patients develop corneal clouding, retinal degeneration, spastic quadriparesis, and mental retardation. Patients with this disorder have not been studied systematically. METHODS: We studied prospectively 15 consecutive patients with mucolipidosis type IV using cranial MRI. RESULTS: Fourteen patients with these typical clinical findings had a hypoplastic corpus callosum with absent rostrum and a dysplastic or absent splenium, signal abnormalities on T1-weighted head MRI images in the white matter, and increased ferritin deposition in the thalamus and basal ganglia. Atrophy of the cerebellum and cerebrum was observed in older patients, which may reflect disease progression. One patient with a mild clinical variant had a normal corpus callosum. CONCLUSION: Patients with mucolipidosis type IV have characteristic cranial MRI findings that suggest that this disorder causes both developmental and neurodegenerative abnormalities.
Adolescent↗
Endolymphatic sac tumors. A source of morbid hearing loss in von Hippel-Lindau disease.
OBJECTIVES: Isolated reports suggest a possible association of endolymphatic sac tumors (ELSTs), which are extremely rare in the general population, with von Hippel-Lindau disease (VHL). To determine if hearing loss and ELSTs are a component of VHL, we examined prevalence, clinical presentation, and natural history of hearing loss and ELSTs in VHL. DESIGN: Brain magnetic resonance images (MRIs) from 374 patients screened for VHL were reviewed for evidence of ELSTs. The VHL patients with MRI evidence suggestive of ELSTs or a history of hearing loss, tinnitus, or vertigo underwent additional radiologic and audiologic evaluations. To further assess prevalence of hearing loss and ELST in VHL, the next 66 patients screened in the VHL clinic (49 with proven VHL, 17 at risk for VHL) received MRI and audiologic assessment. SETTING: Referral center. PARTICIPANTS: Study subjects comprised 374 persons screened for VHL, 66 consecutive patients with VHL or at risk for VHL, 4 patients with 6 ELSTs, and 13 previously reported patients with VHL and invasive tumors of the temporal bone. INTERVENTION: Magnetic resonance image and computed tomographic (CT) scan of the posterior fossa and audiologic assessment. MAIN OUTCOME MEASURES: Any ELST visible on MRI or CT and hearing loss compatible with ELST. RESULTS: Magnetic resonance imaging revealed evidence of 15 ELSTs in 13 (11%) of 121 patients with VHL, but in none of the 253 patients without evidence of VHL (P<.001). Clinical findings in these 13 patients included hearing loss (13), tinnitus (12), vertigo (8), and facial paresis (1). Mean age at onset of hearing loss was 22 years (range, 12-50 years). Hearing for pure tones was abnormal in all affected ears and in 6 of the 11 additional, allegedly unaffected ears. In 8 patients (62%), hearing loss was the first manifestation of VHL. Presence or absence of hearing loss was associated with duration of symptoms (P<.002) and with tumor size (P<.01). Further, 43 (65%) of the 66 patients from the VHL clinic had pure tone threshold abnormalities, abnormalities that occurred bilaterally in 23 (54%) of the 43 affected subjects; however, evidence is lacking for a definitive association with ELST (3 [6%] of 49 patients with proven VHL had ELST evident on MRI). CONCLUSIONS: Hearing loss and ELSTs are frequently associated with VHL syndrome and should be considered when screening individuals at risk for VHL and when monitoring patients with an established diagnosis of VHL. Many patients with VHL have hearing loss without radiographic evidence of an ELST. Whether it is caused by an ELST that is too small to be detected by MRI or is produced by some other etiology is still unknown. Audiologic evaluation and MRI should allow early detection and enhance management of hearing loss in these patients.
Age of Onset↗
Association of visual field, cup-disc ratio, and magnetic resonance imaging of optic chiasm.
OBJECTIVE: To assess the association of visual field, vertical cup-disc (VC/D) ratio, and vertical height of optic chiasm. DESIGN: Case series. SETTING: Outpatient eye clinic. PATIENTS: Eighteen patients with low, normal, or elevated intraocular pressure, with or without visual field defects. INTERVENTION: Measurement of visual field, VC/D ratio, and vertical height of optic chiasm. MAIN OUTCOME MEASURES: Association between VC/D ratio and visual field defects compared with association between vertical height of optic chiasm and visual field defects. RESULTS: Visual field defects were graded as 0, 1 to 10, and 11 to 20 (from least to most severe). Group mean VC/D ratios were 0.47 (0), 0.55 (1-10), and 0.69 (11-20) for right eyes and 0.48 (0), 0.57 (1-10), and 0.75 (11-20) for left eyes. The significance level for trend was P = .02 for right eyes and P = .006 for left eyes. Group mean chiasm heights were 3.5 (0), 2.9 (1-10), and 2.2 (11-20) mm for right eyes and 3.5 (0), 2.8 (1-10), and 2.2 (11-20) mm for left eyes. The significance level for trend was P < .001 for right eyes and P = .002 for left eyes. To assess the simultaneous effects of VC/D ratio and chiasm height on the visual field defects groups, we used ordinal logistic regression models. Models with both variables implied that chiasm height was a stronger predictor of visual field defects group than VC/D ratio (for right eyes, P = .04 [VC/D ratio], P = .001 [chiasm height]; for left eyes, P = .11 [VC/D ratio], P = .005 [chiasm height]). CONCLUSIONS: When chiasm and VC/D ratio were analyzed in the same model, chiasm height was a stronger predictor of visual field defects. In advanced visual field defects, the optic chiasm is atrophic.
Adolescent↗
Proton magnetic resonance spectroscopic imaging in progressive supranuclear palsy, Parkinson's disease and corticobasal degeneration.
We used proton magnetic resonance spectroscopic imaging (1H-MRSI) to assess the in vivo cortical and subcortical neuronal involvement in progressive supranuclear palsy, Parkinson's disease and corticobasal degeneration. This technique permitted the simultaneous measurement of compounds containing N-acetylaspartate (NA), choline (Cho), creatine-phosphocreatine (Cre) and lactate, from four 15-mm slices divided into 0.84-ml single-volume elements. The study included 12 patients with progressive supranuclear palsy, 10 with Parkinson's disease, nine with corticobasal degeneration and 11 age-matched normal control subjects. Regions of interest were selected from the brainstem, caudate, thalamus, lentiform nucleus, centrum semiovale, and from frontal, parietal, precentral, temporal and occipital cortices. Progressive supranuclear palsy patients, compared with control subjects, had significantly reduced NA/Cre in the brainstem, centrum semiovale, frontal and precentral cortex, and significantly reduced NA/Cho in the lentiform nucleus. Corticobasal degeneration patients, compared with control subjects, had significantly reduced NA/Cre in the centrum semiovale, and significantly reduced NA/Cho in the lentiform nucleus and parietal cortex. There were no significant differences between Parkinson's disease patients and control subjects, or between patients groups in any individual region of interest. In the parietal cortex of corticobasal degeneration patients, NA/Cho was significantly reduced contralateral to the most affected side. There were statistically significant group differences in the regional pattern of NA/Cre and NA/Cho reduction, comparing normal control subjects with all patient groups, Parkinson's disease with corticobasal degeneration, and Parkinson's disease with progressive supranuclear palsy. Although the occurrence of significant groups differences does not imply that it is possible to differentiate between individual patients using 1H-MRSI in progressive supranuclear palsy and corticobasal degeneration, detection of specific cortical and subcortical patterns of neuronal involvement is possible with this technique. We suggest that this regional pattern of neuronal involvement found in progressive supranuclear palsy and corticobasal degeneration may help in the diagnostic evaluation of affected individuals.
Aged↗
Proton magnetic resonance spectroscopic imaging in patients with cerebellar degeneration.
Using proton magnetic resonance spectroscopic imaging, we studied the cerebellum of 9 patients with cerebellar degeneration and of 9 age-matched normal control subjects. This technique permits the simultaneous measurement of N-acetylaspartate, choline-containing compounds, creatine/phosphocreatine, and lactate signal intensities from four 15-mm slices divided into 0.84-ml single-volume elements. Because patients with cerebellar degeneration often show substantial atrophy on magnetic resonance imaging (MRI), we specifically chose to analyze the spectroscopic signals only from tissue that did not have an atrophic appearance on the MRI. The spectroscopic findings showed a significant reduction of N-acetylaspartate in all parts of the cerebellum, a significant correlation with MRI scores of cerebellar atrophy, and a significant correlation with clinical rating scores of cerebellar disturbance. Our method of analysis suggests the presence of a neurodegenerative process in cerebellar areas that do not appear to be atrophic on the MRI. Some limitations of proton magnetic resonance spectroscopic imaging in the present study were related to the partial field inhomogeneity characteristics of the posterior fossa, the anatomical location of the cerebellum, and the particularly severe cerebellar atrophy in some of the patients.
Adult↗
Successful early copper therapy in Menkes disease associated with a mutant transcript containing a small In-frame deletion.
Classical Menkes disease is a fatal X-linked neurodegenerative disorder caused by defects in a gene (MNK) that encodes a copper-transporting ATPase. Treatment with parenteral copper has been proposed for patients identified before symptoms develop. We recently described suboptimal outcomes despite early copper replacement in two classical Menkes patients whose mutation predicts little if any functional copper transporter. Here, we describe successful copper replacement therapy in a patient with Menkes disease with a splice acceptor site mutation (IVS8,AS,dup5) that causes exon-skipping and generates a mutant transcript with a small in-frame deletion in a noncritical region. The patient was diagnosed by analysis of neurochemical levels in cord blood, and parenteral copper replacement was begun at 8 days of life. Throughout infancy, he showed normal head growth, brain myelination, and age-appropriate neurodevelopment, including independent walking at 14 months of age. In contrast, his affected half-brother and first cousin with the same mutation, but who were not diagnosed and treated from an early age, showed arrested head growth, cerebral atrophy, delayed myelination, and abnormal neurodevelopment. We propose that the successful neurological outcome in this patient was related to early repletion of circulating copper levels, in combination with residual copper transport by a partially functional MNK ATPase containing the small deletion. We hypothesize that raising plasma copper concentrations in patients with Menkes disease with some residual functional gene product can increase the ligand: transporter ratio and thus alter favorably the kinetics of copper transport into and within the brain.
Adenosine Triphosphatases↗