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PubMed2002

Morphological features and associated anomalies of schizencephaly in the clinical population: detailed analysis of MR images.

Although they are well documented in autopsy series, the macroscopic features and associated anomalies of schizencephalies have not been described in detail in a large clinical population. To assess the macroscopic findings of schizencephaly and the prevalence of associated findings, we conducted a retrospective MR analysis of a group of patients with schizencephaly. The MR studies of 35 patients with schizencephaly were retrospectively reviewed. The images were examined for the location and size of the schizencephalic cleft, the presence and location of associated polymicrogyria, and the presence, location, and severity of other brain anomalies. A total of 54 schizencephalic clefts were seen in the 35 patients. These clefts were unilateral in 18 (51%) patients and bilateral in 17 (49%) patients; three clefts were identified in two patients. Nine clefts (17%) had fused lips and 45 had separated-lip clefts (83%). Polymicrogyria was present inside 23 clefts (43%), while subependymal heterotopias were present at the cleft orifice in 27 clefts (50%). Polymicrogyria was identified outside the cleft, both adjacent to and remote from the cleft, in 23 patients (66%). Abnormal cerebral white-matter signal intensity was present in seven patients (20%), while white-matter volume diminution was noted in all patients. Ventricular diverticula with mass effect, roofing membranes, remnant floors, and cord-like remnants were present in 12, 1, 11, and 3 patients, respectively. Our results show that the spectrum of macroscopic findings in schizencephaly includes fused-lip and separated-lip clefts, polymicrogyric and non-polymicrogyric cleft linings, cyst-like diverticula and membranous structures, and subependymal heterotopia at the cleft. Concomitant anomalies are polymicrogyria outside the cleft, white-matter diminution, septal and optic pathway anomalies, callosal anomalies and hippocampal anomalies. Unilateral and bilateral clefts occur in a nearly equal frequency in the clinical population, in contrast to the high incidence of bilateral schizencephaly reported in the pathological literature.

Adolescent↗
PubMed2003

MRI and 1H MRS findings in Smith-Lemli-Opitz syndrome.

Smith-Lemli-Opitz syndrome (SLOS) is an autosomal recessive disorder characterized by a defect in cholesterol biosynthesis, associated with mental retardation and multisystem structural abnormalities. This study investigated the prevalence of congenital CNS abnormalities by MRI in a large series of patients with SLOS and the correlation of the clinical and biochemical findings with the results of MRI and 1H MRS. Eighteen patients were studied; all underwent MRI of the brain, and 16 had 1H MRS of the cerebral white matter. The ratios choline:NAA, lipid:NAA, and lipid:choline metabolite were found to be correlated with the clinical degree of disease severity, serum total sterol ratios (cholesterol/cholesterol + 7-dehydrocholesterol + 8-dehydrocholesterol) and in two cases with the effect of cholesterol therapy. Abnormal CNS findings were noted in five patients, including callosal abnormalities (n = 4), Dandy-Walker variant (n = 1), and arachnoid cyst (n = 1). Holoprosencephaly was noted in one patient with a prevalence of 6%. Choline:NAA was elevated in seven patients. There was a statistically significant positive correlation between the lipid:choline ratio and the serum cholesterol precursor, 8-dehydrocholesterol. In two patients 1H MRS demonstrated abnormally elevated lipids prior to cholesterol therapy, which improved on therapy. The use of MRI and 1H MRS is an effective way to demonstrate brain structural abnormalities in patients with SLOS and may prove to be an effective method for the assessment of the effects of cholesterol replacement therapy in the brain.

Adolescent↗
PubMed2001

T2 relaxometry of brain in myotonic dystrophy.

We investigated the nature and extent of brain involvement in myotonic dystrophy (DM), examining possible T2 relaxation abnormalities in the brain of 20 patients with adult-onset DM and 20 sex- and age-matched normal controls. Brain MRI was performed at 0.5 T, and T2 values were calculated from signal intensity in two echoes. Regions of interest included: frontal, parietal, temporal, occipital and callosal (rostral and splenial) normal-appearing white matter; frontal, occipital, insular and hippocampal cortex; caudate nucleus, putamen, globus pallidus and thalamus. All white-matter and occipital and right frontal cortex regions showed a significantly longer T2 in the patients. Multiple regression analysis, including grey- and white-matter T2 as dependent variables, plus age at onset and at imaging, disease duration, muscular disability, brain atrophy and CTG trinucleotide repeats as independent variables, revealed that only white-matter T2 elongation and disease duration correlated positively. White-matter involvement in DM is more extensive than previously reported by MRI and neuropathological studies and seems to be progressive in the course of disease.

Adolescent↗
PubMed2000

Cranial MRI in the Nijmegen breakage syndrome.

We present the results paragraph signof MRI examinations in ten patients with documented Nijmegen paragraph signbreakage syndrome (NBS), aged 1.75-19 years. T1-, Proton-Density- and T2-weighted spin-echo sequences were performed in three planes. All patients showed microcephaly with decreased size of the frontal lobes and narrow frontal horns. In four patients agenesis of the posterior part of the corpus callosum was found, with colpocephaly and temporal horns dilatation. In one patient callosal hypoplasia was accompanied by abnormal cerebrospinal fluid spaces and wide cerebral cortex, suspicious of pachygyria. Sinusitis was present in all ten patients, as a result of primary immunodeficiency. As in ataxia teleangiectasia and other breakage syndromes, patients with NBS show an inherited susceptibility to malignancy and hypersensitivity to X- and gamma-radiation. CT is therefore contraindicated in these patients and MRI should be the method of choice for diagnostic imaging.

Adolescent↗
PubMed2004

Morphometry of the corpus callosum in Chinese children: relationship with gender and academic performance.

BACKGROUND: The corpus callosum has been widely studied, but no study has demonstrated whether its size and shape have any relationship with language and calculation performance. OBJECTIVE: To examine the morphometry of the corpus callosum of normal Chinese children and its relationship with gender and academic performance. MATERIALS AND METHODS: One hundred primary school children (63 boys, 37 girls; age 6.5-10 years) were randomly selected and the standardized academic performance for each was ascertained. On the mid-sagittal section of a brain MRI, the length, height and total area of the corpus callosum and its thickness at different sites were measured. These were correlated with sex and academic performance. RESULTS: Apart from the normal average dimension of the different parts of the corpus callosum, thickness at the body-splenium junction in the average-to-good performance group was significantly greater than the below-average performance group in Chinese language (P=0.005), English language (P=0.02) and mathematics (P=0.01). The remainder of the callosal thickness showed no significant relationship with academic performance. There was no significant sex difference in the thickness of any part of the corpus callosum. CONCLUSIONS: These findings raise the suggestion that language and mathematics proficiency may be related to the morphometry of the fibre connections in the posterior parietal lobes.

Child↗
PubMed1997

Cystic periventricular leukomalacia of the corpus callosum.

Periventricular leukomalacia (PVL) is a common finding during neurosonography of preterm infants. Secondary thinning of the corpus callosum is seen following PVL, typically from loss of hemispheric white matter tracts. We report a case of direct involvement of the corpus callosum with PVL, its pathogenesis, and its potential as a cause of corpus callosal thinning.

Corpus Callosum↗
PubMed2002

Diagnosis, characterisation and evaluation of treatment response of frostbite using pertechnetate scintigraphy: a prospective study.

No large prospective study is available on use of a radionuclide method to assess frostbite and its response to conservative treatment. Recently, a large retrospective study using two-phase bone scintigraphy suggested that non-uptake (or low uptake) in frostbite lesions in the blood pool or bone phase had a strong correlation with the subsequent need for amputation. In the present study, we performed early blood pool scintigraphy with technetium-99m pertechnetate in 20 patients (10-180 days after frostbite injury; 71 clinical lesions) referred for a topical treatment protocol for mild to moderately severe frostbite, and in 22 asymptomatic controls. The aims of the study were to define the "normal" microcirculation of the hands and feet, to characterise the appearances of frostbite lesions on scintigraphy and correlate these with the clinical presentation, and to evaluate the usefulness of scintigraphy for assessing the treatment response. Six patients were "fresh", 12 had been undergoing conservative treatment (topical homeopathic) for several weeks and two had permanent fibrotic hand phalanges. Nine patients on treatment underwent serial scintigraphy a total of 22 times. Eleven patients were imaged only once, including the two with permanent fixed defects. Three distinct physiological microcirculation patterns were evident in control hands or feet: right- or left-handedness (seven subjects), subclinical inflammatory foci correlating with callosity or pressure points (36 lesions) and distinctly increased pooling of radiotracer at the thenar or hypothenar region (eight subjects). In frostbite patients, 128 lesions (48 inflammatory, 80 ischaemic) were seen on the scan. This number included all 71 lesions identified clinically, the rest being subclinical. Subclinical frostbite lesion as an entity has not been described previously. Microvasculature of normal muscle groups (in the hands, elbow or feet) was shown on scintigraphy to improve after topical treatment. The treatment resulted in improved or normalised perfusion scan in 25 of 45 ischaemic segments with matching clinical improvement, and reduction or normalisation of uptake in inflammatory lesions (n=30). The data confirm the vasodilator and anti-inflammatory action of the topical preparation, and the sensitivity of the radionuclide method in monitoring treatment response. In contrast to the previous findings that non-uptake on a scan performed 2 or more weeks after exposure correlates with the need for amputation, none of the 80 ischaemic lesions in our series required amputation while 60% showed improvement or normalisation in microvascular blood flow even though they were 10-180 days old. Our findings suggest that moderate to severe frostbite lesion can be classified as having infarcted, ischaemic or hibernating (viable) tissue, similar to the classification employed when using myocardial scintigraphy. Absence of uptake even after the initial 10 days does not necessarily indicate infarction and the need for amputation as many such lesions retain potential for vasodilation and recovery.

Adolescent↗
PubMed2001

The long-term results of resection arthroplasties of the first metatarsophalangeal joint in rheumatoid arthritis.

We performed a retrospective study in 188 patients (254 feet) with rheumatoid arthritis and compared the late results of Keller's procedure with those of Hueter-Mayo's technique after 7.9 years. More than 60% of the Keller group and 30% of the Hueter-Mayo group were suffering from persistent metatarsalgia due to increased forefoot pressure as well as experiencing pain around the great toe. Plantar callosities, recurrent hallux valgus deformity, lack of plantar flexion and weakened push-off were more frequent after Keller's procedure.

Adult↗
PubMed2001

Surgery for hallux valgus. The expectations of patients and surgeons.

Two-hundred patients who had undergone surgery for hallux valgus were interviewed in an attempt to study the different variables which may have contributed to the success of their surgery. These data were compared to the results obtained by using clinically applied scores. To obtain data on surgeons' expectations, 186 members of two national orthopaedic foot societies were interviewed in order to quantify the importance and value of these variables in prognosis. The main interest of the patients is a painless great toe which, when wearing conventional shoes, gives no problems. They also wish to have their bursitis and bunion treated in order to regain their ability to walk as much as they wish. Surgeons are not only specially interested in pain and shoe problems but also in restoring an adequate range of motion in the metatarsophalangeal joint (MTP), removal of the bunion and the treatment of tender callosities. We found that the correction of footwear problems, alleviation of pain and restoration of adequate walking are the most important factors influencing the outcome of surgery. It was surprising that these expectations are only partly revealed by using clinical foot scores.

Adult↗
PubMed2004

The shooty callus induced by suppression of tobacco CHRK1 receptor-like kinase is a phenocopy of the tobacco genetic tumor.

CHRK1 encodes a tobacco receptor-like kinase that contains a chitinase-like sequence in the extracellular domain. In a previous study, CHRK1-suppressed transgenic tobacco plants exhibited pleiotropic developmental abnormalities including spontaneous growth of shooty callus from emerging embryos in the absence of any exogenous hormones. In this study, we show that the CHRK1 shooty callus mimics tobacco genetic tumors in its morphology, physiology, and gene expression profiles. Similar to CHRK1 shooty callus, tobacco genetic tumors exhibit shooty callus morphology and hormone-independent shoot organogenesis. Both the CHRK1 callus and genetic tumors constitutively expressed KNOTTED1-type homeobox genes at the high levels, consistent with their vigorous shoot formation. These two types of calli exhibited cell death phenotypes, accompanied by high H2O2 production, increased ion leakage, and callose accumulation. Consistently, both types of calli constitutively expressed high levels of defense genes induced during pathogen-mediated HR cell death. These results, together with previous reports that both the CHRK1 shooty callus and tobacco genetic tumor contained high levels of cytokinin, indicate that CHRK1 shooty callus is a phenocopy of tobacco genetic tumor. CHRK1-mediated signal transduction may play a role in the formation of the genetic tumor in tobacco.

Cell Death↗
PubMed2003

The value of fast MR imaging as an adjunct to ultrasound in prenatal diagnosis.

The aim of this study was to evaluate the role of MR imaging of the fetus to improve sonographic prenatal diagnosis of congenital anomalies. In 40 fetuses (not consecutive cases) with an abnormality diagnosed with ultrasound, additional MR imaging was performed. The basic sequence was a T2-weighted single-shot half Fourier (HASTE) technique. Head, neck, spinal, thoracic, urogenital, and abdominal fetal pathologies were found. This retrospective, observational study compared MR imaging findings with ultrasonographic findings regarding detection, topography, and etiology of the pathology. The MR findings were evaluated as superior, equal to, or inferior compared with US, in consent with the referring gynecologists. The role of these findings in relation to pregnancy management was studied and compared with postnatal follow-up in 30 of 40 babies. Fetal MRI technique was successful in 36 of 39 examinations and provided additional information in 21 of 40 fetuses (one twin pregnancy with two members to evaluate). More precise anatomy and location of fetal pathology (20 of 40 cases) and additional etiologic information (8 of 40 cases) were substantial advantages in cerebrospinal abnormalities [ventriculomegaly, encephalocele, vein of Galen malformation, callosal malformations, meningo(myelo)cele], in retroperitoneal abnormalities (lymphangioma, renal agenesis, multicystic renal dysplasia), and in neck/thoracic pathology [cervical cystic teratoma, congenital hernia diaphragmatica, congenital cystic adenomatoid lung malformation (CCAM)]. This improved parental counseling and pregnancy management in 15 pregnancies. In 3 cases, prenatal MRI findings did not correlate with prenatal ultrasonographic findings or neonatal diagnosis. The MRI provided a more detailed description and insight into fetal anatomy, pathology, and etiology in the vast majority of these selected cases. This improved prenatal parental counseling and postnatal therapeutic planning.

Adult↗
PubMed2005

Acquired lesions of the corpus callosum: MR imaging.

In this pictorial review, we illustrate acquired diseases or conditions of the corpus callosum that may be found by magnetic resonance (MR) imaging of the brain, including infarction, bleeding, diffuse axonal injury, multiple sclerosis, acute disseminated encephalomyelitis, Marchiafava-Bignami disease, glioblastoma, gliomatosis cerebri, lymphoma, metastasis, germinoma, infections, metabolic diseases, transient splenial lesion, dilated Virchow-Robin spaces, wallerian degeneration after hemispheric damage and focal splenial gliosis. MR imaging is useful for the detection and differential diagnosis of corpus callosal lesions. Due to the anatomical shape and location of the corpus callosum, both coronal and sagittal fluid-attenuated inversion recovery images are most useful for visualizing lesions of this structure.

Brain Diseases↗
PubMed2005

Age-related signal intensity changes in the corpus callosum: assessment with three orthogonal FLAIR images.

The presence of age-related hyperintensities of the corpus callosum has not been thoroughly evaluated. Fifty-two patients of 50 years of age or older (mean, 71 years; range, 50-87 years) were included in this study. Fluid-attenuated inversion recovery images were obtained in three orthogonal planes. Periventricular hyperintensities (PVHs) and deep white matter hyperintensities (DWMHs) were graded according to Fazekas' rating scale. Correlations between the presence of hyperintensities in the corpus callosum and age, and the grade of PVH and DWMH were statistically analyzed. PVH was categorized as grade 0 (n=4), grade 1 (n=28), grade 2 (n=10), or grade 3 (n=10). DWMH was categorized as grade 0 (n=4), grade 1 (n=25), grade 2 (n=8), or grade 3 (n=15). Hyperintensity was considered present in the corpus callosum in 31 of the 52 patients (60%). In these 31 patients, PVH was categorized as grade 1 (n=16), grade 2 (n=7), or grade 3 (n=8), while DWMH was categorized as grade 0 (n=1), grade 1 (n=10), grade 2 (n=7), or grade 3 (n=13). The presence of callosal hyperintensities was significantly correlated with age (p=0.001), and with PVH (p=0.04) and DWMH grades (p=0.004). Hyperintensities may be present in the corpus callosum with aging, and are correlated with PVH and DWMH.

Age Factors↗
PubMed2006

Gamma knife radiosurgery for callosotomy in children with drug-resistant epilepsy.

OBJECTIVES: Gamma knife radiosurgery as a noninvasive procedure is increasingly used as a treatment option in patients with intractable seizures. We investigated efficacy and safety of gamma knife radiosurgery (GKRS) for callosotomy in children. MATERIALS AND METHODS: Between 2000 and 2004 three children between 4 and 14 years (mean 8 years) underwent radiosurgical callosotomy. One child presented with Lennox-Gastaut syndrome, two with hemispheric cortical dysplasia. These two children underwent functional hemispherotomy before GKRS. GKRS was performed with a marginal dose of 55-60 Gy on the 50% isodose. RESULTS: Mean follow-up was 35 months. Radiosurgical callosotomy was ineffective in one child with the Lennox-Gastaut syndrome, whereas in the remaining two children, a 100% seizure reduction of generalized tonic-clonic seizures, 20-70% reduction of partial seizures, and a progress in mental and physical development was achieved. No postradiosurgical side effects were observed in all children. CONCLUSION: Radiosurgical callosotomy might be offered after hemispherotomy to complete callosal resection. However, larger number of patients and longer follow-ups are needed to draw final conclusions.

Adolescent↗
PubMed2006

Minicolumnar abnormalities in autism.

Autism is characterized by qualitative abnormalities in behavior and higher order cognitive functions. Minicolumnar irregularities observed in autism provide a neurologically sound localization to observed clinical and anatomical abnormalities. This study corroborates the initial reports of a minicolumnopathy in autism within an independent sample. The patient population consisted of six age-matched pairs of patients (DSM-IV-TR and ADI-R diagnosed) and controls. Digital micrographs were taken from cortical areas S1, 4, 9, and 17. The image analysis produced estimates of minicolumnar width (CW), mean interneuronal distance, variability in CW (V (CW)), cross section of Nissl-stained somata, boundary length of stained somata per unit area, and the planar convexity. On average CW was 27.2 microm in controls and 25.7 microm in autistic patients (P = 0.0234). Mean neuron and nucleolar cross sections were found to be smaller in autistic cases compared to controls, while neuron density in autism exceeded the comparison group by 23%. Analysis of inter- and intracluster distances of a Delaunay triangulation suggests that the increased cell density is the result of a greater number of minicolumns, otherwise the number of cells per minicolumns appears normal. A reduction in both somatic and nucleolar cross sections could reflect a bias towards shorter connecting fibers, which favors local computation at the expense of inter-areal and callosal connectivity.

Adolescent↗
PubMed1999

Multiple system atrophy with remarkable frontal lobe atrophy.

The autopsy findings of a multiple system atrophy (MSA) patient with remarkable frontal lobe atrophy are described. The patient was a 65-year-old woman with a 13-year history of untreatable parkinsonism, dysautonomia and progressive motor aphasia. The brain weight was 810 g, and there was remarkable atrophy of the cerebrum predominantly in the frontal lobe, striatum, pons and cerebellum. Microscopic examination revealed a preserved cortical structure with laminar gliosis in the sixth layer of the precentral and superior frontal gyri of the frontal lobe, and postcentral gyrus and inferior parietal lobule of the parietal lobe. The second layer of the cortices of these regions were also revealed to be in a spongy state, and mild cell loss was seen in the fifth and six layers. The frontal lobe white matter showed a mild loss of myelinated fibers and axons, and mild gliosis. Glial cytoplasmic inclusions (GCIs) were abundantly observed in the deep layer of the cortex in the regions mentioned above, and were more abundant in the white matter of the frontal and parietal lobes, callosal body, and internal, external and extreme capsules. There was severe degeneration in the olivopontocerebellar and striatonigral systems, and GCIs in widespread regions of the brain. No Pick bodies, Lewy bodies, ballooned neurons, senile plaques, or significant amounts of neurofibrillary tangles were detected. There were no vascular changes. Thus, this was a verified MSA patient with progressive aphasia and remarkable frontal lobe atrophy. We indicate a possible involvement of the cerebral lobes in MSA.

Aged↗
PubMed2003

A study of the mechanisms of normal-appearing white matter damage in multiple sclerosis using diffusion tensor imaging--evidence of Wallerian degeneration.

Diffusion tensor imaging (DTI) investigates brain tissue microstructure in vivo. In multiple sclerosis (MS) Wallerian degeneration of axons traversing focal lesions is a potential mechanism of damage in normal-appearing white matter. In vivo evidence for this hypothesis is limited. The present study investigated the relationship between DTI-derived indices in the normal-appearing corpus callosum (CC) and the lesion loads (LLs) in connected cerebral regions. DTI was performed in 39 MS patients and in 21 age-matched controls. Fractional anisotropy (FA) and mean diffusivity (MD) were estimated in the genu, body and splenium of CC. Patients showed lower FA and higher MD in the CC than controls and both correlated with the total LL (r = -0.56 and r = 0.54, p < 0.0001). The LL of individual cerebral lobes correlated with both FA and MD in the corresponding callosal regions, with the body showing the strongest correlations with frontal and parietal LL (p < 0.0001). The strong correlations between DTI indices in the CC and the extent of lesions in connected brain regions support the hypothesis that Wallerian degeneration of axons transected by remote, but connected focal lesions, is an important pathogenic mechanism of damage in MS.

Adult↗
PubMed2005

Neural consequences of somatosensory extinction: an fMRI study.

There are currently two main interpretations proposing mechanisms underlying tactile extinction: sensory and attention deficit hypotheses. Kinsbourne proposed an opponent processor model to support the attention deficit hypothesis. He insisted that bilateral hemispheres interact reciprocally through contralaterally oriented vectors, and in patients presenting extinction, balance is impaired, causing inattention. From Kinsbourne's point of view, extinction is not caused by sensory disturbance but inattention, therefore even in extinction patients, simultaneous bilateral stimuli should reach the bilateral primary sensory cortices (SI). Using functional magnetic resonance imaging (fMRI), tactile stimuli were administered to both hands of healthy subjects as well as a tactile extinction patient. The patient with tactile extinction extinguished right palm stimuli following simultaneous palm stimulation. During the fMRI study, we gave tactile stimuli to the right palm, the left palm, and simultaneously to both palms. In normal subjects, simultaneous bilateral stimuli activated the bilateral SI and bilateral secondary sensory cortices (SII). In the patient with right tactile extinction, simultaneous bilateral stimuli activated the bilateral SI along with the bilateral SII and right superior parietal lobule. Our study suggests that activation of SI is insufficient to engender an awareness of sensory stimuli. From the view point of Kinsbourne, stimulus driven activity in one hemisphere suppresses activity in the other hemisphere via callosal connections. Our results support the notion that an undamaged superior parietal lobule in the patient with tactile extinction suppresses the damaged parietal lobe function and causes extinction.

Adolescent↗