PURPOSE: To investigate the feasibility of magnetic resonance (MR) flow mapping in the assessment of aortic biophysical properties in patients with Marfan syndrome and to detect differences in biophysical properties in the normal-sized aorta distal to the aortic root between these patients and matched control subjects.MATERIALS AND METHODS: Seventy-eight patients with Marfan syndrome with aortic root dilatation and 23 matched control subjects underwent MR flow mapping in four locations in the normal-sized aorta (1, ascending aorta; 2, thoracic descending aorta; 3, descending aorta at the level of the diaphragm; and 4, abdominal descending aorta). Distensibility at each location and flow wave velocity between locations were calculated.RESULTS: Compared with the control subjects, patients with Marfan syndrome had decreased aortic distensibility at three of the four locations (levels 1, 2, and 4; P < .05) and increased flow wave velocity between all locations (P < .05) in the aorta. In patients with Marfan syndrome, flow wave velocity was also significantly increased along the entire aortic tract beyond the aortic root (from level 1 to level 4).CONCLUSION: MR imaging reveals abnormal biophysical properties of the normal-sized aorta in patients with Marfan syndrome. Monitoring of these properties is relevant for evaluating disease progression and treatment options.

Electroencephalography (EEG) bands may have different clinical or physiological correlates at initial diagnosis of Alzheimer’s disease (AD). We studied 163 consecutive patients with probable (n = 105) and possible (n = 58) AD with measurements of cognitive function (CAMCOG), regional cerebral blood flow (rCBF) with single photon emission computed tomography using technetium-99m-labeled hexamethylpropylene amine oxime, and computed tomography (CT). Lower CAMCOG scores were significantly and most strongly associated with lower parieto-occipital and fronto-central alpha power. In a separate analysis of cognitive domains, disturbances in language, praxis, attention, and abstraction were also significantly and most consistently related to decrease in alpha power. Presence of cortical atrophy as measured on CT showed some statistically significant relations with EEG bands, but these associations were not consistent. Lower temporal and parietal rCBF were significantly related to lower parieto-occipital alpha activity. Presence of leukoaraiosis was significantly associated with lower beta values, but also with higher absolute theta and delta activity. The results suggest that alpha on EEG is most closely linked to cognitive function and rCBF, while beta and theta activity more likely reflect lower cortical or subcortical changes. Our study thus provides evidence that the EEG bands reflect differential pathophysiologic changes in AD.

OBJECTIVE:MR angiography may be an appropriate tool to screen for unruptured intracranial aneurysms. Feasibility, test characteristics, and interobserver agreement in evaluation of MR angiograms were assessed by members of the MARS (Magnetic resonance Angiography in Relatives of patients with Subarachnoid hemorrhage) Study Group.SUBJECTS AND METHODS:We screened 626 first-degree relatives of a consecutive series of 193 patients with subarachnoid hemorrhage examined at two institutions. We used MR imaging and MR angiography (three-dimensional time-of-flight imaging at both institutions and additional three-dimensional phase-contrast imaging at one institution). Three observers independently assessed the MR angiograms. Conventional angiography was performed in relatives with possible or definite aneurysms on MR angiography and was considered the standard of reference.RESULTS:Thirty-three aneurysms were found in 25 (4%; 95% confidence interval [CI], 3-6%) of 626 relatives. Thirteen (8%) of 169 relatives who refused screening had MR-related reasons; an additional six persons could not be screened because of contraindications for MR imaging (pregnancy, n = 1; claustrophobia, n = 5). The positive predictive value of MR angiography was 100% (95% CI, 79-100%) for "definite" aneurysms and 58% (95% CI, 28-85%) for "possible" aneurysms. Sensitivity of MR angiography was estimated at 83% (95% CI, 65-94%) and specificity at 97% (95% CI, 94-98%). Interobserver agreement in the evaluation of MR angiograms was poor (kappa < .30), probably because different diagnostic strategies used by individual observers resulted in different use of the assessment category "possible aneurysm."CONCLUSION:MR angiography is a feasible screening tool for detection of intracranial aneurysms. Positive predictive value, sensitivity, and specificity are acceptable when at least two neuroradiologists independently assess MR angiograms.

Background The first-degree relatives of patients who have subarachnoid hemorrhage from ruptured intracranial aneurysms are themselves at risk for subarachnoid hemorrhage. We studied the benefits and risks of screening for aneurysms in the first-degree relatives of patients with sporadic subarachnoid hemorrhage.Methods We screened 626 first-degree relatives (parents, siblings, or children) of 160 patients with sporadic subarachnoid hemorrhage, from a prospective series of 193 consecutive index patients. Magnetic resonance angiography was the screening tool, and conventional angiography was used as the reference test in subjects thought to have aneurysms. Six months after elective operation, outcome was assessed by means of the modified Rankin scale of neurologic function. This observational study design was combined with a decision-analysis model to estimate the effectiveness of screening. The efficiency of screening was defined by the number of relatives who needed to be screened in order to prevent one subarachnoid hemorrhage.Results Aneurysms were found in 25 of 626 first-degree relatives (4.0 percent; 95 percent confidence interval, 2.6 to 5.8 percent). Eighteen underwent surgery, which resulted in a decrease in function in 11 (disabling in 1). Five had medium-sized aneurysms that were 5 to 11 mm in diameter, 11 had small aneurysms that were less than 5 mm, and 2 had both small and medium-sized aneurysms. On average, surgery increased estimated life expectancy by 2.5 years for these 18 subjects (or by 0.9 month per person screened), at the expense of 19 years of decreased function per person. The number of relatives who would need to be screened in order to prevent 1 subarachnoid hemorrhage on a lifetime basis was 149, and 298 would have to be screened in order to prevent 1 fatal subarachnoid hemorrhage.Conclusions Implementation of a screening program for the first-degree relatives of patients with sporadic subarachnoid hemorrhage does not seem warranted at this time, since the resulting slight increase in life expectancy does not offset the risk of postoperative sequelae. (N Engl J Med 1999;341:1344-50.) (C) 1999, Massachusetts Medical Society.

Objectives-X-linked adrenoleukodystrophy (X-ALD) is an inherited disorder of peroxisomal fatty acid oxidation, biochemically characterised by the accumulation of saturated very long chain fatty acids (VLCFAs), particularly hexacosanoic acid (C26:0). Dietary treatment with a 4:1 mixture of glyceroltrioleate and glyceroltrierucate ("Lorenzo's oil") normalises plasma VLCFA concentrations, but neither ameliorates nor arrests the rapid progression of neurological symptoms in the cerebral variants of X-ALD. The efficacy of "Lorenzo's oil" in the milder phenotypes of X-ALD was assessed, as this has been much less investigated.Methods-Twenty two patients who were treated with "Lorenzo's oil" for at least 12 months for a median period of 2.5 (range 1.0-6.0) years were studied. Two had asymptomatic ALD, four the "Addison only" variant, 13 adrenomyeloneuropathy (AMN), and three were symptomatic female carriers.Results-The plasma C26:0 concentration normalised or near normalised in 19 patients (86%), in the three others it decreased significantly. Nevertheless, disability as measured with the extended disability status scale score increased mildly (0.5 (95% confidence interval (95% CI) 0.25-1.0)) in the 16 patients with neurological symptoms. Furthermore, one "Addison only" patient and one patient with AMN developed cerebral demyelination, and another "Addison only" patient developed AMN. Adrenocortical insufficiency evolved in one patient with AMN, and hypogonadism in one patient with asymptomatic ALD and two patients with AMN. Nerve conduction, evoked potential studies (SEP, BAEP, VEP), and abnormalities on cerebral MRI did not improve. On the other hand, side effects were often noted-namely, mild increases in liver enzymes (55%), thrombocytopenia (55%), gastrointestinal complaints (14%), and gingivitis (14%). We also found a mild decrease in haemoglobin concentration and leucocyte count.Conclusions-The data suggest that treatment with "Lorenzo's oil" neither improved neurological or endocrine function nor arrested progression of the disease. Furthermore, the oil often induced adverse effects. Therefore, it is advocated that "Lorenzo's oil" should not be prescribed routinely to patients with X-ALD who already have neurological deficits.

PURPOSETo investigate whether coronal multiplanar reconstruction (MPR) images of the petrosal bone from axial spiral computed tomographic (CT) data obtained with 0.5-mm collimation can replace direct coronal sequential CT scans obtained with 0.5- or 1.0-mm collimation.MATERIALS AND METHODSThe differences in diagnostic quality between thin-section coronal sequential CT scans of 24 petrosal bones in 12 patients and matched MPR images were assessed by five observers. The matched MPR images were calculated with both trilinear and tricubic interpolation. Image resolution was determined by measuring the three-dimensional point spread function.RESULTSAll observers preferred tricubically interpolated MPR images over trilinearly interpolated images. Subjective differences in image quality between direct coronal scans and matched tricubically interpolated MPR images were small. Only the direct coronal scans with the highest image quality (0.5-mm collimation, 465 mAs) were judged to be slightly better than the matched MPR images. With regard to direct coronal scans obtained at 245 mAs and/or 1.0-mm collimation, either there was no preference or the MPR images were preferred.CONCLUSIONCoronal MPR images from axial spiral CT obtained with 0.5-mm collimation can replace direct coronal sequential CT scans.

We investigated whether an index based on clinical features, electroencephalogram and computed tomography is useful to predict survival in early Alzheimer's disease. One hundred and sixty-three consecutively referred patients to an outpatient memory clinic and first diagnosed with Alzheimer's disease (105 'probable' and 58 'possible', NINCDS-ADRDA criteria) were studied and outcome measure was death. Cox proportional hazards regression analysis and Kaplan-Meier survival curves were used to investigate relations between baseline parameters and survival. Eighty-four patients (51. 5%) died during the follow-up period that extended to 5.8 years, with a median duration of survival after entry of 4.3 years. Baseline factors that were statistically significant and independently related to increased risk of mortality were high age, male sex, poor cognitive function as measured with the CAMCOG, low alpha and beta power on electroencephalogram, and temporoparietal atrophy on computed tomography scan. These results were independent of the diagnosis probable or possible Alzheimer's disease. Based on the coefficients from the regression equation, we computed a survival index for each patient and we constructed three groups according to tertiles of this index. After 5.2 years of follow-up, survival curves showed a low mortality group with 81.7% patients alive (median survival at least 5.7 years), an intermediate mortality group with 35.9% patients alive (median survival 3.8 years), and a high mortality group with no patients alive (median survival 2.3 years). Log rank tests were statistically significant for comparisons between all three groups. We conclude that an overall index combining demographic, cognitive, electroencephalogram and computed tomography features is a strong predictor of survival in early Alzheimer's disease.

PURPOSETo assess the diagnostic yield of magnetic resonance (MR) imaging in patients with symptoms and signs related to the trigeminal nerve.MATERIALS AND METHODSMedical records and MR imaging studies in 112 consecutive patients referred for MR imaging over 5 years were evaluated. MR images were independently reviewed by two neuroradiologists unaware of the clinical findings. Signs and symptoms at presentation were associated with either a positive or negative MR imaging outcome. Logistic regression analysis was performed to identify clinical variables related to imaging results.RESULTSSixty-eight (61%) patients had positive MR imaging findings related to symptoms and signs. Trigeminal neuralgia was correlated with a negative MR imaging outcome (P < .001). Numbness (P < .01), impaired sensation (P < .001), other neurologic symptoms and signs (P < .01), progression of symptoms and signs (P < .001), and duration of symptoms of less than 1 year (P < .001) corresponded to a positive MR imaging outcome. Two regression models, each with three clinical parameters (progression, duration < 1 year, and trigeminal neuralgia or impaired sensation), had comparable accuracy for prediction of the MR imaging outcome.CONCLUSIONClinical findings can be used to identify groups in which a high or a low yield of MR imaging is correlated with symptoms and signs related to the trigeminal nerve.

We compared the frequencies of signs of old intracerebral hemorrhages on brain magnetic resonance imaging scans in 66 patients with ischemic stroke, 69 with myocardial infarction, and 86 with peripheral arterial disease (a total of 221 patients). Magnetic resonance imaging scans were independently assessed by two investigators without knowledge of clinical or laboratory data. In 31 patients (14%) we found local cerebral hemosiderin deposits. In 24 patients they were clinically silent. Hemosiderin deposits were significantly more frequent in patients with ischemic stroke (26%) than in patients with myocardial infarction (4%) or peripheral arterial disease (13%). Hemosiderin deposits were associated with cerebral white matter lesions (odds ratio, 5.3; 95% confidence interval, 2.5-12.4). The odds ratios were higher in patients with severe cerebral white matter lesions. Our findings support the hypothesis that cerebral vessels of patients with ischemic stroke are more prone to rupture than those of patients with other manifestations of atherosclerotic disease, which may explain the higher incidence of intracerebral hemorrhages when these patients are treated with oral anticoagulants. The microhemorrhages were associated with cerebral white matter lesions, which suggests that they are another manifestation of cerebral small-vessel disease.

Objective: To examine the clinical relevance of isolated pontine hyperintense lesions (PHLs) on MRI in patients with atherosclerosis. Methods: Seventeen atherosclerotic patients with isolated PHL on MRI were compared with 17 patients without PHL and were matched for age, sex, and initial manifestation of atherosclerosis. Subjects and observer were blinded to the MRI findings. We assessed symptoms, impairment, and disability with a structured interview and neurologic examination as veil as disability scales. Results: On all items, patients with PHL scored worse than did their controls. We found the largest differences in frequencies of symptoms of disequilibrium, difficulties with speech or swallowing, the Timed Walking Test, and the body care and movement subscale of the Sickness Impact Profile. Except for disequilibrium (p = 0.04), these differences did not reach statistical significance. Abnormal tandem-walking tests were more frequent in patients than they were in controls. Pyramidal signs were equally distributed. Conclusions: We propose PHL as a cause of symptoms of disequilibrium in patients with atherosclerosis. Symptoms are probably elicited by dysfunction of the corticopontine fibers, the pontocerebellar fibers, or the pontine nuclei.

To examine the clinical relevance of isolated pontine hyperintense lesions (PHLs) on MRI in patients with atherosclerosis.Seventeen atherosclerotic patients with isolated PHL on MRI were compared with 17 patients without PHL and were matched for age, sex, and initial manifestation of atherosclerosis. Subjects and observer were blinded to the MRI findings. We assessed symptoms, impairment, and disability with a structured interview and neurologic examination as well as disability scales.On all items, patients with PHL scored worse than did their controls. We found the largest differences in frequencies of symptoms of disequilibrium, difficulties with speech or swallowing, the Timed Walking Test, and the body care and movement subscale of the Sickness Impact Profile. Except for disequilibrium (p = 0.04), these differences did not reach statistical significance. Abnormal tandem-walking tests were more frequent in patients than they were in controls. Pyramidal signs were equally distributed.We propose PHL as a cause of symptoms of disequilibrium in patients with atherosclerosis. Symptoms are probably elicited by dysfunction of the corticopontine fibers, the pontocerebellar fibers, or the pontine nuclei.

Background and Purpose Pontine hyperintense lesions (PHL) on T2-weighted MRI have been recognized recently. Histopathological findings resemble periventricular leukoaraiosis, and a vascular etiology has been suggested. We studied the frequency and the associated factors of PHL in patients with symptomatic atherosclerosis.Methods Two independent observers assessed brain MRIs in a prospective cohort of patients with symptomatic atherosclerosis. Only patients in whom both observers scored PHL on T2- and proton density-weighted images, but not on T1-weighted images, were considered to have the lesion.Results We studied 229 patients: 31% presenting with ischemic stroke, 31% with myocardial infarction, and 38% with peripheral artery disease. Both observers scored PHL in 23% of all patients. Patients with PHL were significantly older and had more lacunar infarcts and periventricular leukoaraiosis than patients without PHL. There were more women, more hypercholesterolemic and diabetic patients, and more cortical infarcts on MRI (P=NS). After logistic regression the presence of leukoaraiosis (odds ratio, 2.4; 95% confidence interval, 1.6 to 3.4) and lacunar infarcts (odds ratio, 2.2, 95% confidence interval, 1.5 to 3.1) remained independently associated with PHL. PHL was more common in patients with ischemic strokes (39%) than in patients with myocardial infarctions (11%) or peripheral artery disease (19%) (P<.001).Conclusions We found that PHL on T2- and proton density-weighted MR images are often found in patients with symptomatic atherosclerosis. The association with periventricular leukoaraiosis and lacunar infarcts suggests that PHL is a variant of leukoaraiosis, with possibly the same pathophysiology. The clinical symptoms and consequences of PHL, however, are not yet clear.

Objective: To evaluate the magnetic resonance imaging (MRI) findings of 15 patients with perineural tumor extension along the trigeminal nerve in correlation with clinical data. Methods: The clinical records and MRI studies of 15 patients with perineural tumor extension along the trigeminal nerve were retrospectively reviewed. Imaging studies included plain and contrast-enhanced thin section T1-weighted spin echo (T1-WSE) MRI with and without fat-suppression. The studies were compared to determine which sequence provided greatest tumor conspicuity and best depiction of tumor extent. The conspicuity of these tumors was assessed on the available sequences by two observers by consensus. Results: The contrast-enhanced T1-weighted spin echo fat-suppressed images (T1-WSECEFS) demonstrated greatest tumor conspicuity and best depiction of tumor extent in the extracranial head and neck and skull base region. The conventional T1-weighted spin echo pre- and postcontrast images were, however, diagnostic of perineural tumor extension in 11 patients due to the presence of considerable tumor bulk and extension well above the skull base. In the other four patients the perineural tumor was poorly visualized on the conventional T1-WSE images and well visualized on the fat-suppressed images. The mandibular division of the trigeminal nerve (V3) was most commonly involved (n = 10), followed by the maxillary (V2;n = 5) and ophthalmic (V1; n = 2) division. Two patients had both mandibular as well as maxillary nerve involvement. The finding of perineural tumor extension had significant impact on patient management: based on the MR imaging study, the primary tumor was considered inoperable (n = 13), the extent of surgery was expanded (n = 2) and radiation therapy (RT) ports were extended (n = 12). Conclusion: Complete trigeminal nerve imaging is recommended when evaluating (suspected) head and neck malignancies with a high risk for perineural extension. In these cases thin section axial and coronal precontrast T1-WSE MR images and postcontrast T1-WSE MR images with fat-suppression should be obtained. In the rare event that artifacts degrade the quality of the fat-suppressed images, contrast-enhanced T1-WSE sequences without fat-suppression can additionally be used.

PURPOSE To compare two magnetic resonance (MR) imaging techniques for demonstration of vascular contact with the trigeminal nerve. MATERIALS AND METHODS Thirteen patients with unilateral trigeminal neuralgia and 50 control subjects underwent three-dimensional fast inflow with steady-state precession (FISP) and contrast material-enhanced magnetization-prepared rapid acquisition gradient-echo (MP-RAGE) MR imaging. The images were independently reviewed by two neuroradiologists, who were blinded to the clinical details. Six of the 13 patients underwent surgery. RESULTS Vascular contact with the trigeminal nerve at the root entry zone was seen on FISP images in 10 of 13 (77%) symptomatic nerves and in eight of 113 (7%) asymptomatic nerves (P < .001). MP-RAGE and FISP images demonstrated arterial contacts equally well. MP-RAGE images demonstrated one additional venous contact at the root entry zone in a patient with ipsilateral trigeminal neuralgia. Interobserver agreement was good for both FISP (kappa = 0.69) and MP-RAGE (kappa = 0.78) images. The presence of vascular contact at the root entry zone, seen on preoperative MR images, was confirmed in all six patients who underwent surgery. CONCLUSION Both FISP and MP-RAGE MR imaging are useful in demonstrating vascular contact with the trigeminal nerve at the root entry zone in patients with trigeminal neuralgia.

Movement DisordersVolume 12, Issue 6 p. 1105-1108 Clinical/Scientific Note Apraxia of eyelid closure accompanied by denial of eye opening Dr. M. Aramideh, Corresponding Author Dr. M. Aramideh Department of Neurology and Clinical Neurophysiology Unit, Academic Medical Center Amsterdam, The NetherlandsDepartment of Neurology (H2–214), Academic Medical Center, Meibergdreef 9, 1105 AZ Amsterdam, The NetherlandsSearch for more papers by this authorI. H. Kwa, I. H. Kwa Department of Neurology, Academic Medical Center Amsterdam, The NetherlandsSearch for more papers by this authorJ. W. M. Brans, J. W. M. Brans Department of Neurology, Academic Medical Center Amsterdam, The NetherlandsSearch for more papers by this authorJ. D. Speelman, J. D. Speelman Department of Neurology, Academic Medical Center Amsterdam, The NetherlandsSearch for more papers by this authorB. W. Ongerboer de Visser, B. W. Ongerboer de Visser Clinical Neurophysiology Unit, Academic Medical Center Amsterdam, The NetherlandsSearch for more papers by this authorB. Verbeeten Jr., B. Verbeeten Jr. Department of Radiology, Academic Medical Center Amsterdam, The NetherlandsSearch for more papers by this author Dr. M. Aramideh, Corresponding Author Dr. M. Aramideh Department of Neurology and Clinical Neurophysiology Unit, Academic Medical Center Amsterdam, The NetherlandsDepartment of Neurology (H2–214), Academic Medical Center, Meibergdreef 9, 1105 AZ Amsterdam, The NetherlandsSearch for more papers by this authorI. H. Kwa, I. H. Kwa Department of Neurology, Academic Medical Center Amsterdam, The NetherlandsSearch for more papers by this authorJ. W. M. Brans, J. W. M. Brans Department of Neurology, Academic Medical Center Amsterdam, The NetherlandsSearch for more papers by this authorJ. D. Speelman, J. D. Speelman Department of Neurology, Academic Medical Center Amsterdam, The NetherlandsSearch for more papers by this authorB. W. Ongerboer de Visser, B. W. Ongerboer de Visser Clinical Neurophysiology Unit, Academic Medical Center Amsterdam, The NetherlandsSearch for more papers by this authorB. Verbeeten Jr., B. Verbeeten Jr. Department of Radiology, Academic Medical Center Amsterdam, The NetherlandsSearch for more papers by this author First published: 04 November 2004 https://doi.org/10.1002/mds.870120651Citations: 4AboutPDF ToolsRequest permissionExport citationAdd to favoritesTrack citation ShareShare Give accessShare full text accessShare full-text accessPlease review our Terms and Conditions of Use and check box below to share full-text version of article.I have read and accept the Wiley Online Library Terms and Conditions of UseShareable LinkUse the link below to share a full-text version of this article with your friends and colleagues. Learn more.Copy URL Share a linkShare onFacebookTwitterLinked InRedditWechat Citing Literature Volume12, Issue6November 1997Pages 1105-1108 RelatedInformation

AIM:In this study, we evaluated scaphoid X-series, Carpal Box radiographs (longitudinal and transverse), planar tomography, computed tomography (CT), and magnetic resonance imaging (MRI) in the diagnosis of scaphoid fracture. The aim of this study was to evaluate the planar technique in the diagnosis of scaphoid fracture. The use of planar tomography, CT, and MRI was to see whether these methods are useful in the diagnosis of scaphoid fracture when other diagnostics modalities remains negative. METHODS:Twenty-eight embalmed human cadaver specimens were used, in 23 of which fractures of the scaphoid were produced mechanically. Scaphoid X-series, Carpal Box posterior-anterior radiographs in ulnar deviation (X-CB), Carpal Box posterior-anterior views with the hand in 15-degree supination and ulnar deviation (X-CB 15-degree) were acted in all specimens, CT in eight wrists, planar tomography in seven wrists, and MRI in five wrists. The anatomic analysis of the specimens was used as the gold standard for comparison. Scaphoid X-series, Carpal Box radiographs, and planar tomography were judged independently and in a blind fashion by six observers, and CT and MRI were also judged independently and in a blind fashion by three radiologists. The observers were asked if they could recognize a scaphoid fracture. The agreement among the six observers for the scaphoid X-series and X-CB was measured. RESULTS:In the 23 fractured wrists, scaphoid X-series, X-CB, X-CB 15-degree, was true positive in 12, 14, and 15 wrists, respectively, whereas these methods were true negative in cadaver wrists 1, 3, and 5. CT was true positive in five of five fractured wrists and true negative in three of three negative wrists. Planar tomography was true positive in one of four fractured wrists and true negative in two of three nonfractured wrists. MRI was obtained in five wrists (one without a fracture), of which the fracture was recognized in only two. The highest agreement between observers was found in the X-CB 15-degree. CONCLUSION:From the planar investigated methods, the 15-degree Carpal Box posterior-anterior, longitudinal and transverse views were most accurate in recognizing scaphoid fracture with also the highest agreement between the observers.

In a 21-year-old woman with a smaller and sloppy handwriting, drooling especially when stooping, sporadic choking, clumsiness, and frequent stumbling, Wilson's disease was diagnosed. The medical history disclosed a short period of haemolytic anaemia with transient hepatic failure, and irregular menstruation periods with infertility. On examination there were no signs of liver or spleen enlargement. She was slow, had an expressionless face and mild dysarthria, and slight impairment of the coordination of the limbs. Magnetic resonance imaging of the brain showed bilateral hyperintensive lesions of the basal ganglia on T2W images. Zinc therapy induced a good biochemical response and there was also some clinical improvement. Linkage analysis within the family identified one other asymptomatic homozygotically affected sister. A diagnostic delay occurs frequently due to relative unfamiliarity with this rare disease and due to its variable clinical expression.

OBJECTIVE:The MR findings in a characteristic pattern of hypoxic-ischemic brain damage in term infants are described.MATERIALS AND METHODS:The MR images of seven patients with cerebral palsy and a specific pattern of central cortico-subcortical cerebral damage were studied retrospectively and correlated with clinical findings.RESULTS:All seven patients were born at term. Five of the seven patients had a clear history of severe perinatal asphyxia. All children had severe encephalopathic symptomatology, including spastic tetraplegia, extrapyramidal symptoms, and a mental deficit. The MR showed localized atrophy of the cortex and in addition cystic changes, gliosis, and tissue loss of the adjacent white matter. In all patients, the lesions were band shaped in the left-right direction and characteristically located in areas bordering the central sulcus. The segment of the corpus callosum underlying the affected area was always thin. In some patients, lesions were also found bilaterally in the occipital regions, hippocampus, and basal ganglia. The areas involved match the regions that are known to show active myelination on MR in the term neonate.CONCLUSION:Recognition of this specific pattern on MR in children with cerebral palsy enables the classification of such lesions as resulting from peri- or postnatal asphyxia, even if the perinatal history is unknown or equivocal, and makes other etiologies less likely.