Further magnetic resonance imaging (MRI) brain delineation of 49,XXXXY syndrome

A rare sex chromosome aneuploidy syndrome, 49,XXXXY syndrome is characterized by mental retardation with severe learning difficulties, craniofacial and skeletal abnormalities, hypogonadism, and congenital heart disease. The authors describe a 30-month-old boy with 49,XXXXY syndrome, global developmental delay and white matter changes in the brain magnetic resonance imaging. They reviewed the literature to delineate a specific magnetic resonance imaging pattern of 49,XXXXY syndrome.     

Brain magnetic resonance imaging findings in ECT-induced delirium

A prolonged (interictal) but reversible delirium was induced by electroconvulsive therapy (ECT) in 10 of 87 (11%) elderly depressed patients. Brain magnetic resonance imaging (MRI) revealed several structural abnormalities, particularly basal ganglia and moderate to severe subcortical white-matter lesions, in the patients who developed delirium. These findings are consistent with several lines of data that have implicated the basal ganglia and subcortical white matter in the development of delirium from other causes and suggest that lesions in these areas may predispose one to developing an interictal delirium during a course of ECT.     

Brain magnetic resonance imaging in Wolf-Hirschhorn syndrome

Wolf-Hirschhorn syndrome (WHS) is a rare genetic disorder, which is caused by partial deletion of the short arm of one chromosome 4. Brain magnetic resonance (MR) imaging findings are lacking. We report on brain findings in 10 children with WHS. We evaluated the MR imaging films of 10 subjects affected by WHS, which had been confirmed by genetic study. The age range at MR imaging was between 1 month and 9 years. In 9/10 cases enlargement of the third lateral ventricles was present. In 9/10 cases a global reduction of cerebral hemispheres white matter was present. In 10/10 cases diffuse thinning of the corpus callosum was visible; it was severe in 7/10 cases. In 5/10 cases small foci of T (2) hyper intense signal were visible within the subcortical white matter. In three of the six cases studied within the first year of life frontal periventricular cysts were present. In three of the four cases studied after the first year of life a squared shape of the frontal horns of the lateral ventricles was visible. The MR imaging findings reported in WHS cannot be considered pathognomonic of the syndrome, however, they may suggest WHS.     

Brain magnetic resonance imaging findings in relapsing neuromyelitis optica

BACKGROUND: Some studies showed abnormalities in brain magnetic resonance imaging (MRI) of relapsing neuromyelitis optica (R-NMO) from 12 to 46%. These abnormalities are described as compatible/non-compatible with multiple sclerosis (MS). OBJECTIVE: To describe the abnormal brain MRI lesions in R-NMO with imaging studies conducted with more sensitive white matter change techniques. METHODS: Thirty patients with R-NMO were selected. All MRI brain studies were performed with a 1.5-T Siemens MRI system according to the Standardized MR Imaging Protocol for Multiple Sclerosis from the Consortium of MS Centers Consensus Guidelines. RESULTS: Brain MRI images were evaluated in 29 R-NMO cases because in one case the MRI images were not appropriate for the study. Of these 29 brain MRI studies, 19 cases (65.5%) had at least one or more lesions (1-57) and 10 were negative (34.4%). Brain MRI findings in 19 cases were characterized in T2/fluid-attenuated inversion-recovery (FLAIR) by the presence of subcortical/deep white matter lesions in 16 (84.2%) cases (1-50), most of them <3 mm and without juxtacortical localization. Periventricular lesions were observed in 13 (68.4%) cases, but morphologically they were not oval, ovoid or perpendicularly orientated. Infratentorial lesions, all >3 mm, were observed in 4 (21.05%) cases without cerebellar involvement. T1 studies demonstrated absence of hypointense regions. Optic nerve enhancement was observed in 6/19 patients (31.5%). None of the brain MRI abnormalities observed were compatible with Barkhof et al. criteria of MS. CONCLUSIONS: This study, based on a Cuban patient population, with long duration of disease, good sample size and detailed characterization by MRI, demonstrated the brain MRI pattern of R-NMO patients, which is different from MS.     

The 49, XXXXY syndrome: clinical and psychological findings in five patients

ABSTRACT. In this study clinical and psychological findings arc presented in live 49.XXXXY patients. Their degree of mental retardation varied greatly, i.e. from moderalely to profoundly retarded. A decline in intelligence performance with age was obserived in one boy. Language developmenl was severely retarded with a remarkable discrepancy between language expression and comprehension. Emotional disturbances with low frustration level, timidity and shyness were noted in all live and their level of adaptive functioning was much higher than the cognitive level.     

Brain magnetic resonance imaging findings in patients with mitochondrial cytopathies

BACKGROUND: Mitochondrial cytopathies (MCs) are a heterogeneous group of clinical entities, some of which have classic phenotypes. Magnetic resonance imaging (MRI) has been reported to be helpful in the diagnosis of MC. OBJECTIVE: To correlate the most common brain MRI findings reported in patients with MC with the clinical findings in patients in different MC subgroups. DESIGN: Case series. SETTING: Patients with MCs seen at the Instituto Nacional de Ciencias Médicas y Nutrición Salvador Zubiran, Mexico City, Mexico. PATIENTS: Twenty-one patients with MC with the following phenotypes: chronic progressive external ophthalmoplegia (n = 7), Kearns-Sayre syndrome (n = 7), mitochondrial neurogastrointestinal encephalopathy (n = 6), and myoclonic epilepsy with ragged red fiber myopathy (n = 1). RESULTS: Brain MRI abnormalities were found in 20 (95%) of 21 patients. The most frequent abnormalities were widespread white matter hyperintensity in 19 patients (90%), supratentorial cortical atrophy in 18 patients (86%), and cerebellar atrophy in 13 patients (62%). Widespread white matter hyperintensity (P<.001) and supratentorial cortical atrophy (P = .001) were each correlated significantly with MC. Subsequent subgroup analyses showed that the absence of basal ganglia hyperintensity was correlated with Kearns-Sayre syndrome (P < .001) and the presence of supratentorial cortical atrophy was correlated with mitochondrial neurogastrointestinal encephalopathy (P = .005). CONCLUSIONS: The presence of widespread white matter hyperintensity and/or supratentorial cortical atrophy in brain MRI may help to establish the diagnosis of MC. The radiologist has a role to play in the workup of MC by confirming the diagnosis and possibly distinguishing different subgroups of MC.     

Neurologic aspects of 49,XXXXY syndrome

49,XXXXY syndrome is a rare sex chromosome aneuploidy syndrome characterized by mental retardation, severe speech impairment, craniofacial abnormalities, multiple skeletal defects, and genital abnormalities. We describe a 13-year-old boy with 49,XXXXY syndrome, language impairment, seizures, and left-hemisphere magnetic resonance imaging abnormalities and review the distinctive neurologic, cognitive, and behavioral phenotypes associated with this disorder. Finally, we discuss testosterone supplementation in the treatment of this syndrome.     

视神经脊髓炎患者33例脑部磁共振分析

目的 探讨视神经脊髓炎(neuromyelitis optica,NMO)患者脑部MRI影像学表现.方法 收集满足最新NMO诊断标准且脑部MRI表现不符合多发性硬化诊断标准的患者33例,均行脑部和脊髓MRI检查,分析其MRI影像学特点.结果 33例NMO中,脑部正常表现者5例(15.2%),异常表现28例(84.8%),其中脑内实质有明确病灶22例(66.7%),另6例(18.2%)脑内虽未见明确病灶,但深部脑白质显示了肉眼可视的对称性弥漫性脱髓鞘高信号影.22例明确病灶中,15例病灶数≥2个,7例为单个病灶.幕上近皮质、皮质下和深部脑白质区的点状非特异性病灶最多,少数为非典型的斑片状融合病灶.幕下脑干是易受累的部位(14/33,42.4%),特别是延髓(7/33,21.2%).结论 NMO患者出现脑内异常较为常见,有脑部的异常不能排除NMO的诊断.认识NMO脑内病灶对完善NMO诊断标准有帮助.     

Developmental outcome in 49,XXXXY Klinefelter syndrome.

The developmental histories of two males who have 49 XXXXY Klinefelter syndrome are described. Now aged 16 and six, they have been followed since the ages of four and two, respectively. They have many of the typical physical characteristics described in the literature, but their mental retardation is not as severe as has been reported. Both are moderately delayed in their general development and their personalities and learning styles are more similar to XXY Klinefelter individuals. These two case studies demonstrate previously unreported potential in individuals with this disorder, and the authors discuss the implications of this finding.     

Brain development in Turner syndrome: a magnetic resonance imaging study

Turner syndrome (TS) results from the absence of an X chromosome in females. This genetic condition is associated with specific cognitive deficits and variations in brain volumes. The goal of this study was to use high-resolution magnetic resonance imaging (MRI) to determine morphological variations in TS and to investigate the effects of parental origin of the X chromosome on brain development in TS. MRI brain scans were acquired from 26 girls with TS and 26 age- and gender-matched controls. Seventeen of the TS subjects had a maternally inherited X chromosome (Xm), and nine of the subjects had a paternally inherited X chromosome (Xp). Rater-blind morphometric analyses were conducted to compare tissue volume differences between girls with TS and controls. Three-way analyses were used to compare subgroups and controls. Subjects with TS demonstrated bilateral decreases in parietal gray and occipital white matter accompanied by increased cerebellar gray matter. Subjects with Xm showed decreased occipital white matter and increased cerebellar gray matter compared to controls. No differences were found in comparisons between subjects with Xp and controls or between subjects with Xm and Xp. Results suggest that X monosomy affects posterior cerebral and cerebellar anatomy in TS. While differences between comparisons of Xm and Xp to controls might suggest an imprinting effect, no significant differences were found when the two subgroups were directly compared to each other. Further investigation into the possible role of genomic imprinting is therefore warranted.     

Brain development in Turner syndrome: a magnetic resonance imaging study

Turner syndrome (TS) results from the absence of an X chromosome in females. This genetic condition is associated with specific cognitive deficits and variations in brain volumes. The goal of this study was to use high-resolution magnetic resonance imaging (MRI) to determine morphological variations in TS and to investigate the effects of parental origin of the X chromosome on brain development in TS. MRI brain scans were acquired from 26 girls with TS and 26 age- and gender-matched controls. Seventeen of the TS subjects had a maternally inherited X chromosome (Xm), and nine of the subjects had a paternally inherited X chromosome (Xp). Rater-blind morphometric analyses were conducted to compare tissue volume differences between girls with TS and controls. Three-way analyses were used to compare subgroups and controls. Subjects with TS demonstrated bilateral decreases in parietal gray and occipital white matter accompanied by increased cerebellar gray matter. Subjects with Xm showed decreased occipital white matter and increased cerebellar gray matter compared to controls. No differences were found in comparisons between subjects with Xp and controls or between subjects with Xm and Xp. Results suggest that X monosomy affects posterior cerebral and cerebellar anatomy in TS. While differences between comparisons of Xm and Xp to controls might suggest an imprinting effect, no significant differences were found when the two subgroups were directly compared to each other. Further investigation into the possible role of genomic imprinting is therefore warranted.     

Brain iron in progressive supranuclear palsy: clinical, magnetic resonance imaging, and neuropathological findings

A patient with progressive supranuclear palsy demonstrated a region-specific decrease in T2 signal during high-field-strength brain magnetic resonance imaging. At autopsy the T2-signal hypointensity was found to correspond topographically to increased deposition of ferric iron. The potential clinical, radiologic, and pathophysiologic implications of these findings are discussed.     

Brain magnetic resonance imaging findings in acute relapses of neuromyelitis optica spectrum disorders

We studied cranial magnetic resonance imaging (MRI) lesions in three women with acute attacks of recurrent longitudinally extensive transverse myelitis (r-LETM), recurrent-optic neuritis (r-ON) and r-LETM-CNS. Neuromyelitis Optica -immunoglobulin (IgG) antibody was positive in all cases. Brain MRI (1.5 Tesla) was performed according to protocol from consortium MS centre. We described the cranial lesions in brain MRI of acute relapses. These lesions were different from MS, most had an asymptomatic course which disappeared with time, protocol from consortium of MS centre criteria for brain MRI and seropositivity of NMO-IgG are useful tools for differentiate acute lesions of NMO/MS.     

Hemiconvulsion-hemiplegia-epilepsy syndrome: early magnetic resonance imaging findings and neuroradiological follow-up

We describe a case of hemiconvulsion-hemiplegia-epilepsy (HHE) syndrome documented by longitudinal magnetic resonance imaging (MRI). A two-year and nine-month-old boy had a prolonged hemiconvulsion during fever followed by right hemiparesis. Seven days later the imaging abnormality on T2 and diffusion-weighted images (DWI) was limited to the white matter of the left hemisphere. One month later severe gliosis and unilateral brain atrophy were already evident. MRI is useful in the early stages of prolonged seizures and T2 and DWI abnormalities appear to be well correlated with parenchymal damage that results from sustained ictal activity. The neuroradiological findings in our case and in the few HHE patients reported in the literature seem to be very characteristic and, if confirmed in larger series, could permit an early diagnosis.     

Serial magnetic resonance imaging findings in mucopolysaccharidosis IIIB (Sanfilippo's syndrome B)

Sanfillippo B syndrome (mucopolysaccharidosis (MPS) III, type B) is characterized by mild expression of the characteristic 'Hurler' phenotype and a severe central nervous system involvement. We report three patients with Sanfilippo B syndrome, referred to our clinic because of peculiar facies, delay in language development and behavioral problems, at the ages of 4, 3 and 5 years, respectively. At presentation they manifested clinical features of MPS, severe developmental retardation, radiological features of dysostosis mutiplex, as well as neurophysiological findings suggestive of carpal tunnel syndrome and sensorineural hearing impairment. Due to marked urinary excretion of heparan sulfate, as well as deficiency of alpha-N-acetylglucosaminidase in leukocytes, the diagnosis of Sanfilippo B syndrome was made. Serial brain magnetic resonance imaging (MRI) at different ages demonstrated white matter abnormalities, cortical atrophy and ventricular enlargement in all three patients, while other findings included thickening of the diploe in two patients and callosal atrophy, basal ganglia involvement, cerebellar changes and dilatation of venous sinuses in one patient. Although the combination of the above MRI findings is highly suggestive of a MPS, they carry a little predictive value in the different clinical stages of MPS IIIB.     

Brain magnetic resonance imaging abnormalities in neuromyelitis optica

Objective – Brain abnormalities in neuromyelitis optica (NMO) attracted much attention. Our study was to identify the brain magnetic resonance imaging (MRI) abnormalities in Chinese NMO patients. Methods – Patients who fulfilled the latest diagnostic criteria of NMO proposed by Wingerchuk et al. [Neurology 66 (2006) 1485] and whose brain MRI did not meet the multiple sclerosis (MS) criteria of McDonald et al. [Ann Neurol 50 (2001) 121] were selected to perform MRI scanning of the brain, spinal cord and optic nerves. Results – Twenty‐eight of 33 patients (84.8%) had abnormal MRI findings. Twenty‐two patients (66.7%) presented with well‐defined brain parenchymal lesions and the other six patients (18.2%) with macroscopic symmetrical diffuse hyperintensities in deep white matter. Fifteen of 22 patients had more than one lesion (≥2 lesions) and the other seven patients had single lesion. In the supratentorium, most lesions were punctate or small round dot and non‐specific in juxtacortical, subcortical and deep white matter regions, a few were patchy atypical confluent lesions. Brainstem was easily involved (14/33, 42.4%) especially in medulla (7/33, 21.2%). Conclusions – This study demonstrates the characteristics of brain MRI abnormalities in Chinese NMO patients, which are helpful to the revision of diagnostic criteria for NMO.     

Brain magnetic resonance imaging and manganese exposure

Due to its paramagnetic properties, manganese (Mn) can be effectively visualized by MRI. Mn accumulates selectively in the globus pallidus of basal ganglia, where it can produce high signals at brain magnetic resonance. These hyperintensities are bilateral, symmetrical, and visible in T1-weighted magnetic resonance imaging of different manganese overload conditions. A review of the literature shows identical findings in manganese exposed workers, hepatopatic patients, and patients undergoing total parenteral nutrition with excessive amount of manganese. Two indicators of exposure and hyperintensity were considered, represented respectively by the concentration of Mn in total blood (MnB), and the pallidal index (PI). These two indicators show a positive association, which indicates a possible continuum from normality to clinical stages both in workers occupationally exposed to Mn and in patients suffering from chronic liver disease. Since both MnB and PI show a high degree of variability, further research should be focused on the identification of more accurate indicators.     

Brain stem reflexes in patients with Wallenberg's syndrome: Correlation with clinical and magnetic resonance imaging (MRI) findings

In spite of the general clinical uniformity of Wallenberg's syndrome (WS), individual patients present with a slightly different clinical picture, and detailed studies with magnetic resonance imaging (MRI) show differences in the topography of the brain stem lesion. Neurophysiological characterization of the lesion in WS has been known for a long time, but there are no studies on the possible correlation between lesion topography and neurophysiological deficit. Assuming that afferents from the three branches of the trigeminal nerve reach different parts of the trigeminal nuclei, we examined the possible correlation between the lesion topography assessed by the MRI and the neurophysiological deficit, assessed by studying the brain stem reflexes in patients with WS within 2 weeks after stroke. Neurophysiological abnormalities were always located in the afferent branch of the reflexes examined, but not all patients exhibited abnormalities in all responses. The ophthalmic branch was involved in 92.8% of patients, and the mandibular branch in 57.1% of patients. The patients with MRI lesions located in the lower medulla had normal responses with infraorbital or mental nerve stimulation. The results of this neurophysiological study confirm the heterogeneity of WS. Whether the neurophysiological identification of different subgroups of patients is relevant for clinical outcome needs further studies. © 1996 John Wiley & Sons, Inc.