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PubMedDate not supplied

Transposition of the great arteries, pulmonary atresia, and multiple ventricular septal defects associated with multiple cardiac rhabdomyomas in a case of tuberous sclerosis.

Multiple cardiac rhabdomyomas are frequently associated with tuberous sclerosis. However, very few cardiac malformations have been described with tuberous sclerosis. We report an unusual case of tuberous sclerosis with cerebral and renal lesions associated with dextrotransposition of the great arteries, pulmonary atresia, patent ductus arteriosus, multiple ventricular septal defects, and parachute mitral valve deformity. After reviewing other cases of congenital heart diseases associated with tuberous sclerosis, emphasis is made on the potential influence of multiple rhabdomyomas developing very early during fetal life on final cardiac structures.

Abnormalities, Multiple↗
PubMed1999

Does the tuberous sclerosis complex include intracranial aneurysms? A case report with a review of the literature.

BACKGROUND: Tuberous sclerosis is a protean, genetically determined disease that may involve any organ or tissue and lead to a great number of symptoms and clinical features. OBJECTIVE: Diagnosis can be very difficult in cases with incomplete manifestations (formes fruste) lacking the classic signs of the disease. MATERIALS AND METHODS: We report a case fulfilling the diagnostic criteria for tuberous sclerosis (shagreen patches, hypomelanotic macules, renal cysts and angiomyolipomas, and "migration tracts" in the cerebral white matter) in association with a giant intracranial aneurysm, but lacking mental retardation, epilepsy and facial angiofibroma. RESULTS: Fourteen other cases of tuberous sclerosis and intracranial aneurysms, all but one without any clear sign of polycystic kidney disease, were found in the literature. CONCLUSION: We suggest that vascular dysplasias in general and aneurysms (mainly intracranial) in particular can be added to the other non-primary diagnostic features for the clinical diagnosis of tuberous sclerosis.

Abnormalities, Multiple↗
PubMed2001

Investigation of vertebral "end plate sclerosis".

OBJECTIVE: To evaluate the association between vertebral "end plate sclerosis" and neck pain. DESIGN: A retrospective study was carried out of lateral cervical spine radiographs with a Picture Archive and Communication System (PACS). PATIENTS: Two hundred patients' files were randomly assessed, comprising four equal groups, A to D. The mean ages of the patients were 62+/-7.4 years, 61+/-7.5 years, 40+/-5.6 years and 23+/-5.6 years respectively. In group A, all patients had symptoms of neck pain and a radiographic diagnosis of "end plate sclerosis" of the cervical spine. In groups B to D, asymptomatic patients were recruited and their age groups were 50-69, 30-49 and 10-29 years respectively. Using the PACS, the radiographic density and the sagittal diameter, thickness and area of the end plates at the C5 level were measured. RESULTS AND CONCLUSIONS: No significant differences were found in the radiographic density of the end plates either between the symptomatic and asymptomatic groups (groups A and B), or between different age groups (groups B, C and D). A significant increase in end plate area and thickness was found, however, in both group B (P<0.005) and group C (P<0.01) in comparison with group D. This indicates that the extent of end plate sclerosis increases with age. Our results suggest that the radiographic density of cervical vertebral end plates correlates neither with neck pain nor with increasing age. The radiological sign of "end plate sclerosis" may be over-reported, further limiting its value in the assessment of patients with cervical spondylosis.

Adolescent↗
PubMed2001

Low field-low cost: can low-field magnetic resonance systems replace high-field magnetic resonance systems in the diagnostic assessment of multiple sclerosis patients?

As low-field MR imaging is becoming a widely used imaging technique, we aimed at a prospective assessment of differences in imaging quality between low- and high-field MR imaging in multiple sclerosis patients possibly interfering with diagnostic or therapeutic decision making. Twenty patients with clinically proven multiple sclerosis were examined with optimized imaging protocols in a 1.5- and a 0.23-T MR scanner within 48 h. Images were assessed independently by two neuroradiologists. No statistically significant interrater discrepancies were observed. A significantly lower number of white matter lesions could be identified in low-field MR imaging both on T1- and on T2-weighted images (T2: high field 700, low field 481; T1: high field 253, low field 177). A total of 114 enhancing lesions were discerned in the high-field MR imaging as opposed to 45 enhancing lesions in low-field MR imaging. Blood-brain barrier disruption was identified in 11 of 20 patients in the high-field MR imaging, but only in 4 of 20 patients in low-field MR imaging. Since a significantly lower lesion load is identified in low-field MR imaging than in high-field MR imaging, and blood-brain barrier disruption is frequently missed, caution must be exercised in interpreting a normal low-field MR imaging scan in a patient with clinical signs of multiple sclerosis and in interpreting a scan without enhancing lesions in a patient with known multiple sclerosis and clinical signs of exacerbation.

Adult↗
PubMed2002

White matter and lesion T1 relaxation times increase in parallel and correlate with disability in multiple sclerosis.

Previous studies have established the clinical relevance of hypointense lesions ("black holes") on T1-weighted MRI as a surrogate marker for pathological change [36]. In contrast to measuring the volume of "black holes", the direct measurement of T1 values allows an objective assessment of the changes contributing to hypointensity both in the focal lesions and in the normal appearing white matter (NAWM). The aims of this study were first, to determine the relationship between T1 values in the NAWM and in discrete lesions, second, to test the relationship between white matter T1 changes and measures of disability and third, to determine whether pathology leading to T1 change occurred in thalamic grey matter of patients with multiple sclerosis. 24 patients with clinically definite multiple sclerosis (13 with relapsing-remitting multiple sclerosis and 11 with secondary progressive multiple sclerosis) and 11 controls participated. White matter T1 histograms and mean T1 values for the thalamus were generated from whole brain T1 relaxation time maps measured using a novel echo-planar imaging based MRI sequence at 3Tesla. Tissue segmentation based on T2- and T1-weighted images allowed independent study of changes in lesions and NAWM. White matter T1 histograms from the patient group showed a reduced peak height and a shift towards higher T1 values (p = 0.028) relative to controls. The mean thalamic T1 was greater for secondary progressive patients than for healthy controls (p = 0.03). Mean white matter T1 values correlated significantly with disability (r = 0.48, p = 0.02). The mean T1 value in the T1-hypointense lesions correlated strongly with the mean T1 value in the NAWM (r = 0.80, p < 0.001). No significant relationship was found between mean white matter T1 value and cerebral volume (r = -0.23, p = 0.31). The T1 measurements extend previous observations suggesting that changes in the NAWM occur in parallel with pathology in lesions of MS. T1 measurements of either the total or NAWM therefore may provide a potentially observer- and scanner- independent marker of pathology relevant to disability in MS.

Adult↗
PubMed2005

Modulating processes within the central nervous system is central to therapeutic control of multiple sclerosis.

Historically considered to be an autoimmune demyelinating disease, multiple sclerosis is now recognized to be characterized by significant axonal and neuronal pathology. Addressing this neurodegenerative component of the disease is an important treatment objective, since axonal injury is believed to underlie the accumulation of disability and disease progression. The precise relationship between the inflammatory and neurodegenerative components in multiple sclerosis remains poorly elucidated, although neurodegeneration appears to be at least partially independent from neuroinflammation. The mechanisms underlying axonal injury appear complex and are likely to be multifactorial. Specific treatment strategies need to be developed that act within the central nervous system to prevent neurodegeneration and need to be provided from the earliest stages of disease. It is likely that immunomodulatory treatments acting purely in the periphery will provide only indirect and not direct neuroprotection. A promising approach is to enhance neuroprotective autoimmunity inside the brain, believed to be mediated, at least in part, by the release of neurotrophic factors within the nervous system from infiltrating immune cells. Such a beneficial process would be inhibited by a non-selective immunosuppressive strategy. In summary, treatments of multiple sclerosis should take into account the heterogeneous pathophysiology of the disease. The pathogenic process in the central nervous system itself should be the major focus in multiple sclerosis therapy in order to protect against demyelination and axonal loss and to promote remyelination and regeneration directly in the target tissue, independently of peripheral immune status. In conclusion, selective treatment strategies aimed at preventing axonal injury within the central nervous system are required to complement existing, peripherally acting treatments targeting the immune system.

Animals↗
PubMed1999

1H magnetic resonance spectroscopy of normal appearing white matter in primary progressive multiple sclerosis.

Recent magnetic resonance imaging (MRI) and pathological studies have indicated that axonal loss is a major contributor to disease progression in multiple sclerosis. 1H magnetic resonance spectroscopy (MRS), through measurement of N-acetyl aspartate (NAA), a neuronal marker, provides a unique tool to investigate this. Patients with primary progressive multiple sclerosis have few lesions on conventional MRI, suggesting that changes in normal appearing white matter (NAWM), such as axonal loss, may be particularly relevant to disease progression in this group. To test this hypothesis NAWM was studied with MRS, measuring the concentration of N-acetyl derived groups (NA, the sum of NAA and N-acetyl aspartyl glutamate). Single-voxel MRS using a water-suppressed PRESS sequence was carried out in 24 patients with primary progressive multiple sclerosis and in 16 age-matched controls. Ratios of metabolite to creatine concentration (Cr) were calculated in all subjects, and absolute concentrations were measured in 18 patients and all controls. NA/Cr (median 1.40, range 0.86-1.91) was significantly lower in NAWM in patients than in controls (median 1.70, range 1.27-2.14; P = 0.006), as was the absolute concentration of NA (patients, median 6.90 mM, range 4.62-10.38 mM; controls, median 7.77 mM, range 6.60-9.71 mM; P = 0.032). There was no significant difference in the absolute concentration of creatine between the groups. This study supports the hypothesis that axonal loss occurs in NAWM in primary progressive multiple sclerosis and may well be a mechanism for disease progression in this group.

Adult↗
PubMed2000

Genotyping of presenilin-1 polymorphism in amyotrophic lateral sclerosis.

The mechanisms underlying motor neuron degeneration in amyotrophic lateral sclerosis are not fully understood. Recent studies suggest that apoptosis is involved in the abnormal neural death that occurs in this devastating disease. Presenilin-1, a transmembrane protein, seems to be implicated in apoptosis. To determine whether presenilin-1 intron 8 polymorphism has an influence in the course of amyotrophic lateral sclerosis, we examined this polymorphism genotypes in a large group of patients (n = 72) with amyotrophic lateral sclerosis and in a random sample of 213 healthy individuals. The results showed a significant difference in genotype (P < 0.04) and allele (P < 0.03) distribution between patients controls. These results suggest a possible intervention of presenilin-1 in the pathogenesis of amyotrophic lateral sclerosis.

Adult↗
PubMed2004

Color Doppler imaging in optic neuritis with multiple sclerosis.

PURPOSE: To evaluate the retrobulbar hemodynamics in eyes with optic neuritis with multiple sclerosis and to compare these values with those of the unaffected fellow eyes and healthy control eyes. METHODS: Thirty-four eyes of 17 patients with unilateral optic neuritis and multiple sclerosis and 16 eyes of 16 normal healthy subjects were recruited from the Departments of Ophthalmology and Neurology. The peak systolic and end-diastolic blood flow velocities and resistivity indices of the ophthalmic artery, posterior ciliary arteries and central retinal artery were measured in each eye with optic neuritis, using color Doppler imaging. Then, they were compared with those of the unaffected fellow eyes and healthy control eyes using paired and unpaired Student's t-tests, respectively. RESULTS: The mean retrobulbar blood flow velocities and mean resistivity index in the ophthalmic artery in the eyes with optic neuritis were not significantly different from the unaffected fellow eyes and healthy control eyes, as well (P>0.05). The mean end-diastolic blood flow velocity in the central retinal artery (P=0.04) was lower and mean resistivity indices in the central retinal (P=0.02) and posterior ciliary arteries (P=0.009) were higher in the eyes with optic neuritis than in the control eyes. In patients with multiple sclerosis, the eyes with optic neuritis had higher resistivity indices in the posterior ciliary (P=0.02) and central retinal arteries (P=0.04) than did the unaffected fellow eyes. The retrobulbar blood flow velocities and resistivity indices of all vessels in the unaffected fellow eyes did not significantly differ from the control eyes (P>0.05). CONCLUSIONS: This study suggests that optic neuritis with multiple sclerosis is associated with impaired retrobulbar hemodynamics, especially in the posterior ciliary and central retinal arteries when compared with the contralateral unaffected eyes as well as healthy control eyes.

Adult↗
PubMed2002

Growth dynamics of meningiomas in patients with multiple sclerosis treated with interferon: report of two cases.

BACKGROUND: Although multiple sclerosis (MS) is a common disease of the central nervous system, the association of intraparenchymal tumour has been rarely reported and the potential relationship between intracranial meningioma and MS has not been seriously analysed. This report addresses the association of multiple sclerosis and intracranial meningioma and discusses the effect of interferon treatment on tumour progression. CLINICAL PRESENTATION: We report two cases with multiple sclerosis, who developed meningioma four and twenty years after the diagnosis of MS was made. Neither patient had a history of meningioma initially and both were being treated interferon when the meningioma was progressed. FINDINGS: Histological examination of two cases revealed meningothelial meningioma. The first patient's KI67 level was 2.5% and was positive for the progesterone and estrogen receptor. Chromosomal analysis showed some abnormalities. In the second case, mild atypical change by presence of nuclear enlargement and rare mitotic figures were noted and PCNA, KI67 levels were less than 2%. CONCLUSIONS: We reported the association of multiple sclerosis and intracranial meningioma and observed the progression of the meningiomas during interferon treatment. Although, we cannot exclude the coincidence between the two diseases we discussed suspicious relationship between the interferon treatment and the tumour progression.

Adjuvants, Immunologic↗
PubMed1999

Evidence that allelic variants of the spinocerebellar ataxia type 2 gene influence susceptibility to multiple sclerosis.

Expanded CAG trinucleotide repeats are known to be responsible for five of the autosomal dominant spinocerebellar ataxias (SCA1, SCA2, SCA3, SCA6, and SCA7). We have typed each of these repeats in 226 multiple sclerosis sibling pair families. No expanded repeats were seen, indicating an absence of SCA phenocopies in clinically defined familial multiple sclerosis. However, transmission disequilibrium testing for these repeats demonstrated significant excess transmission of the 22 repeat length allele of the SCA2 gene (P=4. 4E-06) in multiple sclerosis patients. This observation is consistent with pleiotropic effects of the SCA2 gene, with a non-dynamic mutation/polymorphism contributing epistatically to susceptibility in multiple sclerosis.

Alleles↗
PubMed2004

Lessons from the neuropathology of atypical forms of multiple sclerosis.

Multiple sclerosis (MS) is characterized by multiple demyelinated inflammatory lesions disseminated in the central nervous system (CNS). Additional features of MS pathology include axonal loss and gliosis. Remyelination may take place predominantly in the early stages of lesion formation. Pathologically, important inter-individual differences have been observed with respect to oligodendrocyte preservation. Furthermore, different mechanisms of demyelination, such as T-cell/macrophage-mediated demyelination, antibody/complement-mediated demyelination, and primary damage of the oligodendrocyte have been observed in individual MS patients. Atypical MS forms, such as Marburg's acute MS, Devic's neuromyelits optica, Balò's concentric sclerosis, and Schilder's diffuse sclerosis share key aspects of MS pathology, however, each of them harbors characteristic discriminative features. Devic's neuromyelitis optica may represent the prototypical disease with antibody/complement-mediated demyelination, whereas cases with Balò's concentric sclerosis show oligodendrocyte dystrophy. Acute disseminated encephalomyelitis (ADEM) may be regarded as a related condition lacking extensive demyelination. Thus, atypical MS forms may help to elucidate pathogenic mechanisms in MS.

Demyelinating Diseases↗
PubMed2006

Bilateral renal angiomyolipoma coexistent with pulmonary lymphangioleiomyomatosis and tuberous sclerosis.

A case of bilateral renal angiomyolipoma coexistent with pulmonary lymphangioleiomyomatosis and tuberous sclerosis was described, being in shock with massive hematuria. The left giant angiomyolipoma, filling the almost entire abdomen, was complicated with two large hump and moniliform aneurysms. This life-threatening hemorrhage was successfully treated by transcatheter arterial embolization; packing mechanically detachable coils into the aneurysms and embolization of trunk of the left renal artery. Lymphangioleiomyomatosis has been suggested to be an incomplete expression of tuberous sclerosis. Although coexisting renal and pulmonary involvement in tuberous sclerosis is rare, it is important to recognize lymphangioleiomyomatosis as a pulmonary involvement of angiomyolipoma with tuberous sclerosis.

Angiomyolipoma↗
PubMed2002

Aortic valve sclerosis as a marker of active atherosclerosis.

Aortic sclerosis is a calcific disease of the aortic valvular leaflets defined as focal leaflet thickening without significant obstruction to left ventricular outflow. Several clinical factors are associated with calcific aortic valve disease, including male sex, smoking, hypertension, age, hypercholesterolemia, and diabetes. Histologic and biochemical studies suggest similarities between the mechanisms involved in the development of aortic sclerosis and atherosclerosis, suggesting these two diseases may share common pathophysiologic mechanisms. In a recent prospective trial, the presence of aortic sclerosis was associated with an approximately 50% increase in cardiovascular mortality and myocardial infarction, even after correction for age, gender, known coronary artery disease, and clinical factors associated with a aortic sclerosis.

Aortic Valve↗
PubMed1986

Hepatoportal sclerosis in childhood.

The clinical, angiographic, and pathologic features of hepatoportal sclerosis in five children are presented. Hepatosplenomegaly with preservation of liver function and esophageal varices were demonstrated. Histologically, portal alterations were consistent and prominent and included subintimal sclerosis of the intrahepatic venous branches and telangiectases. Angiographic patterns were variable, but all exhibited intrahepatic portal venous obstruction. In three patients, there was an association with extrahepatic portal vein obstruction at different sites. Our data suggest that intrahepatic portal vein thrombosis could be the primary disorder in hepatoportal sclerosis, which may vary in extent and site, involving the intrahepatic branches of the portal vein with or without the involvement of the portal trunk. Combined clinical, angiographic, and pathologic data can contribute to a better understanding of hepatoportal sclerosis in children.

Child↗
PubMed1988

Colonic hamartomas in tuberous sclerosis.

Twelve patients, 5 from the same family, diagnosed consecutively to suffer from tuberous sclerosis were investigated for gastrointestinal polyps. Six patients had no clinical neurologic involvement. Nine had colonic polyps: in 5 patients, these were hamartomas, in 3 patients adenomatous polyps, and the ninth patient had hamartomas and adenomatous and villoglandular polyps. Hamartomatous polyps were identical to those found in the Peutz-Jeghers syndrome. However, in 1 patient they included neural structures and in another there were angiomatous and adipous structures in addition to colitis cystica profunda. Two patients with hamartomatous polyps had normal intelligence and no clinical neurologic symptoms. The evaluation of one kindred revealed the association of hamartomatous polyps of the colon with forme fruste of tuberous sclerosis in different members, but none had the typical disease. Tuberous sclerosis should thus be considered in the differential diagnosis of hamartomatous colonic polyps. Conversely, colonic endoscopy may be a useful adjunctive test in the diagnosis of tuberous sclerosis, particularly in the incomplete varieties of disease.

Adolescent↗
PubMed1976

In vitro cellular responsiveness in multiple sclerosis patients to a purified measles virus nuclear core and to other viral antigens.

The Clausen modification of the peripheral blood buffy coat leukocyte migration test was used to test patients with multiple sclerosis, normal subjects and patients with other neurologic diseases for cell-mediated immunity to commercial measles virus, purified nuclear core material from a human neurotropic strain of measles virus, as well as to commercial preparations of rubella, mumps and parainfluenza HA2. Leukocytes of multiple sclerosis patients showed significantly less mean inhibition of migration in the presence of both measles antigens, mumps and parainfluenza but no difference from controls when incubated with rubella. No correlation could be found between the degree of migration inhibition and concomitant serum anti-measles neutralization antibody titers to the same strain of virus. The use of purified viral antigens might result in more meaningful studies of the status of cellmediated immunity to viral antigens in multiple sclerosis. The relationship of our findings to other studies in this area and to the pathogenesis of multiple sclerosis is discussed.

Antibodies, Viral↗
PubMed1991

Enamel pitting: a common symptom of tuberous sclerosis.

Dental enamel pitting as a diagnostic sign of tuberous sclerosis is explored, and a protocol for the oral examination of patients and persons at risk is described. In this study 50 patients with tuberous sclerosis and 250 control patients were examined for dental enamel pitting. A simple clinical protocol was established for examination with the use of a dental disclosing solution swabbed on dry teeth. The incidence of enamel pitting in the adult dentition of patients with tuberous sclerosis was 100%, whereas that in the adult dentition of the control group was 7%. The simplicity of the test and the high probability of occurrence in tuberous sclerosis make such an examination useful in the diagnosis of this serious genetic disease.

Adolescent↗