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PubMed1995

Serum antibodies reactive with eye muscle membrane antigens are detected in patients with nonspecific orbital inflammation.

PURPOSE: Nonspecific orbital inflammation, also called "orbital pseudotumor," has many of the features of thyroid-associated ophthalmopathy, especially when localized to the eye muscle. The purpose of this study is to test for circulating autoantibodies against eye muscle antigens and features of possible thyroid autoimmunity in patients with nonspecific orbital inflammation. METHODS: The authors studied eight patients with diffuse or localized nonspecific orbital inflammation. The presence of autoantibodies reactive with pig eye muscle membrane antigens and 1D, a recombinant 64 kilodaltons (kd) thyroid and eye muscle protein, were tested in sodium dodecyl sulfate-polyacrylamide gel electrophoresis and Western blotting. RESULTS: The most frequently detected antibodies were those reactive with eye muscle membrane proteins of 55 and 64 kd, which were demonstrated in 62.5% and 62.5%, respectively, of patients with nonspecific orbital inflammation; antibodies against 95- and 45-kd proteins were each detected in 50% of patients. In health subjects, antibodies reactive with the 55- and 64-kd proteins were detected in 16% and 20% of patients, respectively; those reactive with the 95-kd protein were detected in 24% of patients and with the 45-kd protein in 20% of patients. On the other hand, antibodies to 1D were demonstrated in only one patient with nonspecific orbital inflammation and not at all in healthy subjects. The prevalence of positive tests were significantly greater in patients with nonspecific orbital inflammation than healthy patients only for antibodies reactive with a 55-kd protein. Of the four antigens, only the 55-kd protein was expressed in other (systemic) skeletal muscle. No patient had overt thyroid disease or detectable serum antibodies reactive with the thyroid-stimulating hormone receptor, and only one had antibodies reactive with the thyroid microsomal antigen. CONCLUSION: Serum autoantibodies reactive with eye muscle membrane proteins are demonstrated in the majority of patients with nonspecific orbital inflammation. Although the pathogenesis of this condition is unknown, autoimmunity against eye muscle antigens is a likely mechanism. While antibodies reactive with the thyroid microsomal antigen were detected in only one patient and anti-thyroid-stimulating hormone receptor antibodies in none of the patients, a possible association of nonspecific orbital inflammation with thyroid autoimmunity has not been excluded.

Adolescent↗

PubMed1986

[Computed tomography in endocrine orbitopathy: the effects of varying gantry tilt and patient positioning on the measurement of eye muscle thickness and the possibilities for correction].

Thickening of eye muscles in endocrine orbitopathy can be demonstrated particularly impressively in coronary computed tomograms. However, when measuring the height and width of rectus eye muscles manifesting pathologic changes, the measurement is increased by a deviation from the coronary section plane; this is due to different tilting of the gantry. This often leads to an incorrect stage classification and makes objective observation of the course (e.g., under therapy) impossible. By converting the measured values into the actual extent of the muscles by means of the cosine set, appreciable changes in the pattern and frequency of affection of the rectus eye muscles were found in 121 patients examined.

Adult↗

PubMed2006

Inadvertent scleral perforation in eye muscle versus retinal detachment buckle surgery.

PURPOSE: Inadvertent scleral perforation is a recognized complication of eye muscle and retinal detachment buckle surgery. If these operations are performed by the same surgeon, it is unknown which of these procedures has a higher risk of scleral perforation. METHODS: In the period from 1999 until 2004, 427 eyes of 317 patients were operated using eye muscle surgery and 81 eyes of 80 patients with retinal detachment buckle surgery. All operations were performed by the same surgeon (JK). In a retrospective, single-center, comparative, observational study, the records of these patients were assessed to determine the number of scleral perforations with retinal damage or drainage of subretinal fluid. RESULTS: In the group receiving retinal detachment buckle surgery there were two cases of scleral perforation. In one case, scleral perforation occurred during buckle installation and in the other case during placement of a cerclage. The rate of scleral perforation was 2.5 % per patient and per eye in this group. In the group receiving eye muscle surgery no scleral perforations occurred. CONCLUSION: The number of scleral perforations was higher in retinal detachment buckle surgery than in eye muscle surgery, with all procedures having been performed by the same surgeon.

Adult↗

PubMed1991

Immunologically mediated cytotoxicity against human eye muscle and thyroid cells in euthyroid and thyrotoxic Graves' ophthalmopathy.

We have studied the role of eye muscle and thyroid autoimmunity in patients with Graves' hyperthyroidism with or without ophthalmopathy in an area of relatively low iodine intake. Antibody dependent cell mediated cytotoxicity (ADCC) and complement mediated antibody dependent cytotoxicity (CMAC) against thyroid and eye muscle cells, and levels of antibodies against TSH receptor antigen and the thyroid microsomal antigen (thyroid peroxidase) were determined in three groups of patients: (1) thyrotoxic with exophthalmos (TX, n = 28), (2) thyrotoxic without ophthalmopathy (GR, n = 10), and (3) euthyroid ophthalmopathy (EU, n = 12). The thyroid glandular mass of the EU group was significantly less (P less than 0.01) compared with TX or GR. Mean (+/- SD) TSH receptor antibody (TRAb) level was 27 +/- 14% in EU which was significantly lower compared with TX (52.4 +/- 20%) and GR (59 +/- 18%). The prevalence of microsomal antibodies were similar and not significantly different in the three groups. On the other hand the prevalence of positive ADCC and CMAC tests was significantly greater, and at higher levels, in EU (ADCC THY CELLS 10.9 +/- 8.9% SL, ADCC Eye muscle = 25.9 +/- 20% SL, CMAC = 70.2 +/- 43% SL) and TX (ADCC THY CELLS = 9.3 +/- 9.2% SL, ADCC Eye muscle = 20.1 +/- 19% SL, CMAC = 62.4 +/- 30% SL) compared to GR (ADCC THY CELLS = 4.4 +/- 9.5% SL, ADCC Eye muscle = 7.7 +/- 6.7% SL, CMAC = 24.7 +/- 23% SL).(ABSTRACT TRUNCATED AT 250 WORDS)

Adolescent↗

PubMed1985

Measurement of autoantibodies against human eye muscle plasma membranes in Graves' ophthalmopathy.

Antibodies that reacted with plasma membranes of human eye muscle but showed no binding to plasma membranes of human skeletal muscle were identified in serum of patients with Graves' ophthalmopathy. Rabbit antithyroglobulin serum at a dilution of 1 X 10(-3) to 20 X 10(-3) had no effect on the binding of these antibodies to eye muscle membrane antigens. There was no correlation between antihuman eye muscle plasma membrane antibodies and antihuman thyroid membrane antibodies or antibodies against thyroglobulin. It is suggested that specific antibodies against eye muscle membranes are present in Graves' ophthalmopathy and that this disease might represent a distinct autoimmune disorder.

Adult↗

PubMed1999

Demonstration of thyrotropin receptor mRNA in orbital fat and eye muscle tissues from patients with Graves' ophthalmopathy by in situ hybridization.

There is a controversy regarding whether there are thyrotropin (TSH) receptors in orbital fat and eye muscle tissues that may play a role in the pathogenesis of Graves' ophthalmopathy. To elucidate whether there are TSH receptors in orbital fat and eye muscle tissues in patients with Graves' ophthalmopathy, we applied the method of in situ hybridization in orbital fat and eye muscle tissues obtained during the operation for patients with Graves' ophthalmopathy, to directly detect TSH receptor mRNA. To identify whether the cells with positive TSH receptor mRNA are fibroblasts, we also did vimentin immunoreactivity study. To further prove the transcript does have a full length of TSH receptor, the samples of total RNA preparations, extracted from orbital fat and eye muscle tissues, were used as a template for reverse transcriptase polymerase chain reaction (RT-PCR) using three primer sets to generate cDNA fragments and cloned for sequencing. The results showed that the expression of TSH receptor mRNA was demonstrated in adipocytes and fibroblasts of orbital fat, and perimysial fibroblasts within eye muscle tissues by in situ hybridization and vimentin immunoreactivity study. Also, by using the RT-PCR, cloning and sequencing, we further proved that the transcript does have a full length of TSH receptor. The present study suggested that there are TSH receptors expressed in orbital fat and eye muscle tissues.

Adipocytes↗

PubMed1993

Nature of 64 kDa eye muscle and thyroid membrane proteins and their significance in thyroid-associated ophthalmopathy--an hypothesis.

Although a variety of eye muscle antigens are recognized by autoantibodies in the serum from patients with thyroid associated ophthalmopathy (TAO) 64 kDa membrane proteins, which are also expressed in the thyroid, are most closely linked to the development of ophthalmopathy in patients with autoimmune thyroid disease. A cloned 64 kDa protein called 1D, which shares homology with tropomodulin, appears to be closely related to a 64 kDa eye muscle protein identified in immunoblotting and both may be members of a family of cytostructural proteins. The relationship between 64 kDa proteins in eye muscle and thyroid, and its equivalent in somatic skeletal muscle, will only be understood when the various proteins are cloned from expression libraries, sequenced and their consensual and unique domains identified. Since these 64 kDa antigens are expressed in both thyroid and eye muscle, a possible mechanism for the association of ophthalmopathy with autoimmune thyroid disease is immunological cross-reactivity by autoantibodies and sensitized T lymphocytes. Autoantibodies reactive with 64 kDa eye muscle proteins are associated with ophthalmopathy in patients with autoimmune thyroid disorders and predictive of the development of ophthalmopathy in patients with Graves' hyperthyroidism.

Animals↗

PubMed2000

[Healing process and complications after eye muscle surgery].

BACKGROUND: Varying reports on the incidence of operative and postoperative complications following eye muscle surgery have been published. The purpose of this study was to quantify complications after various types of eye muscle surgery as well as minor pathological changes of the anterior and posterior segment. PATIENTS AND METHODS: This prospective study included all patients who underwent eye muscle surgery at the Department of Strabismology and Neuroophthalmology, Giessen, from January to May 1998. Five hundred eyes of 377 patients aged 2-82 years were included. The spectrum of procedures comprised: recessions, resections, tucks, R&R procedures, transpositions, bimedial retroequatorial myopexies, and revisions of rectus and oblique muscles. All patients were examined 1 day preoperatively and 1 day, 1 week, and 3 months postoperatively. Any complications and even minor pathological changes of the anterior and posterior segment were documented. Some changes were assessed by means of a score (0-3). RESULTS: One day postoperatively, 30% of eyes had inflammatory pseudoptosis, most of them mild. Conjunctival swelling and injection were frequently mild and moderate, after 1 week mostly mild. Conjunctival irritation was more pronounced following resection than tucking. Punctate epithelial keratopathy was noted in 1.6% of cases (first postoperative day), dellen in 4.3% (first postoperative week). Three months postoperatively, 14.3% of eyes had biomicroscopically visible conjunctival folds and 91.3% had minimal conjunctival scars. None of the patients had a scleral perforation or other serious complication. CONCLUSIONS: Eye muscle surgery rarely entails complications. Revisions due to organic pathological changes are extremely rare. Possible development of dellen requires check-up 4-7 days postoperatively. Tucking of rectus muscles causes less conjunctival irritation than resection.

Adolescent↗

PubMed1992

TSH binding site structures in human eye muscle fractions identified by using covalent-crosslinking.

125I-labelled human TSH was crosslinked to the human thyroid and extraocular eye muscle membrane and cytosol fractions (which were obtained by centrifugation). Studying crosslinking of 125I-labelled TSH to the thyroid fractions, TSH binding sites' structures were demonstrated on the eye muscle membranes and in the cytosol fractions. The binding of 125I-labelled TSH was inhibited by the addition of 120 mIU/mL of unlabelled TSH (and not with 12 mIU/mL) which confirmed the presence of TSH binding sites structures (MW about 66,000 Da) on the eye muscle membrane and in its cytosol. Adding purified IgG fractions from the sera from controls and Graves' disease (with high titer of antibodies against TSH receptor) to the thyroid and eye muscle membranes and cytosol fractions, the binding of 125I-labelled human TSH was inhibited by molecular weight of about 66,000 Da in the cytosol fractions. The affinity constant of the binding sites in the human eye muscle cytosol and the number of TSH receptors were found to be 146 x 10(9) M-1 and 9.8 x 10(10) molecules/mg/mL by Scatchard analysis, respectively.

Cross-Linking Reagents↗

PubMed1990

Significance of cytotoxic eye muscle antibodies in patients with thyroid-associated ophthalmopathy.

We have studied the clinical significance of cytotoxic antibodies against human eye muscle cells in patients with thyroid-associated ophthalmopathy (TAO). Eye muscle reactive antibodies were measured in an antibody-dependent cell-mediated cytotoxicity (ADCC) assay. A positive test was defined as % specific lysis greater than the upper limit of normal, taken as the mean plus two standard deviations for normal subjects tested concurrently. As parameters of the severity of the ophthalmopathy we measured the degree of proptosis (mm), level of intraocular pressure (IOP) (mmHg) and American Thyroid Association classes (0-6). ADCC tests were positive in 21 out of 42 patients with TAO and in 8 out of 14 patients with Graves' disease without evident eye disease but in none of 12 normal subjects tested. In patients with TAO mean (+/- SE) IOP was significantly greater than that in patients with Graves' disease without apparent eye involvement for the primary position and for all gaze positions. There were significant positive correlations between levels of eye muscle reactive cytotoxic antibodies and the severity of the eye disease quantitated as American Thyroid Association classes 0-6, the IOP in the primary position and on downgaze, but not with the degree of proptosis. These results suggest that cytotoxic antibodies, as detected in ADCC, may play a role in the eye muscle damage of TAO and that their measurement may provide a useful clinical test.

Adult↗

PubMed2006

Carriers and patients with muscle-eye-brain disease can be rapidly diagnosed by enzymatic analysis of fibroblasts and lymphoblasts.

We report a new fibroblast and lymphoblast based protein O-mannosyl beta-1,2-N-acetylglucosaminyltransferase 1 enzymatic assay, which allows rapid and accurate diagnosis of carriers and patients with muscle-eye-brain type of congenital muscular dystrophy. Seven patients with genetically confirmed muscle-eye-brain disease were assayed for protein O-mannosyl beta-1,2-N-acetylglucosaminyltransferase 1 enzyme activity. In three patients and their heterozygous parents, the assays were done on EBV-transformed lymphoblasts, in another three patients they were done on cultured fibroblasts and in the last patient on both fibroblasts and lymphoblasts. Cultured fibroblasts and lymphoblasts from the muscle-eye-brain patients showed a highly significant decrease in protein O-mannosyl beta-1,2-N-acetylglucosaminyltransferase 1 activity relative to controls. The residual protein O-mannosyl beta-1,2-N-acetylglucosaminyltransferase 1 level in fibroblasts (average 0.11 nmoles/h per mg) was about 13% of normal controls. The ratio of protein O-mannosyl beta-1,2-N-acetylglucosaminyltransferase 1 activity to the activity of a glycosyltransferase control (N-acetylglucosaminyltransferase 1; GnT1) in fibroblasts was on average 0.006 in muscle-eye-brain patients and 0.045 in controls. The average residual protein O-mannosyl beta-1,2-N-acetylglucosaminyltransferase 1 level in lymphoblasts was 15% of normal controls. The average ratio of protein O-mannosyl beta-1,2-N-acetylglucosaminyltransferase 1/GnT1 activity was 0.007 in muscle-eye-brain patients, 0.026 in heterozygous carriers and 0.046 in normal controls. Assay of protein O-mannosyl beta-1,2-N-acetylglucosaminyltransferase 1 activity in fibroblasts and lymphoblasts from muscle-eye-brain carriers and patients provides a rapid and relatively simple diagnostic test for this disease and could be used as a screening test in carriers and patients with complex congenital muscular dystrophy.

Cells, Cultured↗

PubMed2000

Graves' ophthalmopathy: eye muscle involvement in patients with diplopia.

BACKGROUND: Diplopia identifies patients with eye muscle involvement in Graves' ophthalmopathy (GO). OBJECTIVE: To identify clinical parameters that could eliminate the need for magnetic resonance imaging (MRI) to assess the activity of inflammation in the eye muscles of GO patients with diplopia. METHODS: In 43 patients with GO with recently developed diplopia, orbital ultrasound and MRI were performed. Muscle diameters and MRI T2 relaxation times were measured, and the amount of orbital connective tissue was calculated from MRI scans and compared with ultrasound readings, diplopia grades, degree of protrusion, ocular pressure, tear production, antibody levels and hormonal parameters of thyroid function. RESULTS: No correlation was found between diameters of 233 extraocular muscles measured by MRI and by ultrasound. For each of the four muscles, there was a diameter above which ultrasound was always unreliable. MRI data were used in further analysis. Of the muscles examined, the inferior rectuses were the most frequently enlarged - at least one, in 93% of cases. Medial, lateral and superior rectuses were enlarged in 59%, 37% and 34% of the orbits respectively. The pattern of muscle involvement of the two orbits tended to be symmetric (r=0.49, P=0.003), particularly for the medial rectuses (r=0.90, P=0.000). Proptosis correlated with the sum of the muscle diameters for a given eye (right eye: r=0.54, P=0.003; left eye: r=0.57, P=0.001), but it failed to correlate with the amount of orbital connective tissue. In 53% of the patients, normal T2 relaxation times were found in all eight muscles. There was only a weak correlation between muscle thickness and T2 relaxation time (r=0.49, P=0.003), indicating that muscle enlargement alone is not a sign of disease activity. The severity of diplopia was independent of T2 relaxation time. The amount of orbital connective tissue showed a negative correlation with the greatest T2 relaxation time for a given eye (r= -0.52, P=0.004); this suggests that disease types exist that have predominant muscle involvement and predominant connective tissue expansion. No correlation between connective tissue expansion and proptosis, diplopia grade, muscle thickness or disease duration was found - that is, connective tissue expansion is not a major factor in diplopia. Both muscle and connective tissue findings were independent of thyroid function. CONCLUSION: Ultrasound and MRI eye muscle diameter readings do not correlate, because of the inherent inaccuracy of orbital ultrasound. Muscle enlargement alone does not mean oedematous swelling and active disease. Neither ultrasound, nor any combination of 11 clinical and laboratory parameters provided the degree of information on muscles and connective tissue that was obtainable by MRI. In unclear cases of recently developed diplopia, before orbital decompression surgery, in the case of treatment failure or if, for any other reason, imaging is needed in GO, MRI is the method of choice.

Adult↗

PubMed1989

Cross-reaction of eye muscle antibodies with thyroid tissue in thyroid-associated ophthalmopathy.

The nature of the association of ophthalmopathy with autoimmune thyroid disease is not understood. Serum autoantibodies to eye muscle have previously been identified and in this study we have explored the hypothesis that there may be shared antigenic determinants between orbital and thyroid tissues. Sera were obtained from patients in whom eye muscle antibodies (EMAb) had been detected by an enzyme-linked immunosorbent assay (ELISA); the sera were preincubated with membrane preparations of thyroid or eye muscle, hepatic membranes being used as control. Tissue-binding antibodies were removed from serum by centrifugation and the supernatant serum was analysed using an indirect ELISA and by immunoblotting. In the ELISA, all sera gave a positive response for EMAb. In one serum, the binding was entirely non-specific. All sera showed significant neutralization of EMAb by eye muscle. In six sera there was reduction of EMAb after exposure to thyroidal antigens, indicative of cross-reaction. Western blotting confirmed the non-specific nature of the binding in one serum. In five of the remaining nine sera, protein bands were identified which interacted specifically with eye muscle and, in two of these, the same determinants were neutralized by preincubation with thyroid tissue. The Western blots confirmed the findings in the ELISA. The determinants recognized by IgG were variable between patients and no common antigen could be identified. This study demonstrates that, in some cases of thyroid-associated ophthalmopathy, there is cross-reaction of EMAb with thyroidal antigens, but this is variable and not found in every case. This may explain the association of the disease with autoimmune thyroid disease, at least in some cases.

Autoantibodies↗

PubMed1995

Human histocompatibility leukocyte antigen-DR and heat shock protein-70 expression in eye muscle tissue in thyroid-associated ophthalmopathy.

To investigate the expression and localization of human leukocyte antigen (HLA)-DR and heat shock protein-70 (HSP-70) in orbital tissue from patients with thyroid-associated ophthalmopathy (TAO), we carried out an immunohistochemical study using anti-HLA-DR and anti-HSP-70 monoclonal antibodies and a streptavidin-biotinperoxidase detection system. Eye muscle tissues were obtained at surgery from 38 patients with TAO and 8 control subjects. HLA-DR expression on eye muscle cells was demonstrated in orbital tissue from 2 of 3 untreated patients and 2 of 35 patients who had been treated with orbital irradiation or corticosteroids, in all of whom lymphocytic infiltration was also demonstrated. HLA-DR was not detected on eye muscle cells from 8 normal controls studied. HLA-DR was expressed on endothelial cells and interstitial cells from almost all patients with TAO and all 8 control subjects. HSP-70 was detected in eye muscle cells from 31 of the patients with TAO, including all 3 untreated patients, and 3 of the controls. Although the degree of HSP-70 expression did not correlate with the severity of the ophthalmopathy, significant expression of HSP-70 in eye muscle cells was more often demonstrated in patients with eye disease of short duration (83%) than in those with disease of longer duration (33%). These results support the notion that eye muscle fiber is an important target of the orbital autoimmune reactions that characterize TAO.

Adult↗

PubMed1993

Repertoires of autoantibodies against homologous eye muscle in ocular and generalized myasthenia gravis differ.

If weakness of the eye muscles remains the only symptom of myasthenia gravis (MG) for more than 2 years, the condition is operationally defined as ocular MG (OMG). A number of clinical, genetic, and immunological differences between this variant and generalized MG (GMG) have been described. We analyzed repertoires of autoantibodies against proteins of skeletal and extraocular muscle in sex- and age-matched groups of patients with either GMG or OMG (n = 10 in each group). All GMG sera detected a group of three proteins larger than 200 kDa which were not detected by any of the OMG sera. Two components with apparent molecular weights of 50 and 60 kDa were stained by seven of the ten OMG sera but by none of the GMG group. These antigens are probably soluble, cytoplasmatic proteins of the eye muscle. OMG sera, furthermore, detected a protein of about 45 kDa in the pellet fraction of eye muscle but failed to do so after adsorption with skeletal muscle fractions. We conclude that OMG and GMG sera contain autoantibodies of different specificities. Our findings further support immunological heterogeneity in MG.

Adult↗

PubMed1979

Ultrastructural alterations in extrinsic eye muscles induced by vincristine.

A comparative morphological analysis of the effects of vincristine on particular types of muscle fibres of the eye and selected trunk muscles of the mouse was performed. Great resistance of the mouse organism to the action of sublethal doses of vincristine has been found. Degenerative changes of great intensity (atrophy of myofibrils, disturbances of the Z line) and the appearance of new changes, not mentioned hitherto among the vincristine myopathies (megamitochondria, intermembranous inclusions, glycogen in mitochondria and very large vacuoles) were observed in the trunk muscles of mice. The eye muscles are seem to be more resistant to the action of vincristine. The intensity of changes in the eye muscles was connected with the types of muscle fibres. Red fibres, rich in mitochondria, underwent relatively greatest changes, whereas the smallest changes were found in tonic fibres, poor in mitochondria and sarcotubular system, i.e. these structures from which spheromembranous bodies, most characteristic of the pathogenic effects of vincristine arise.

Animals↗

PubMed1994

MRI of the brain in muscle-eye-brain (MEB) disease.

Muscle-eye-brain (MEB) disease belongs to the spectrum of rare congenital syndromes with migration disorders of the brain and muscular dystrophy, along with the Walker-Warburg syndrome and Fukuyama congenital muscular dystrophy. Their features overlap, and differential diagnosis presents some difficulties. We examined the brain of 10 patients with MEB using high-field MRI and found a uniform pattern consisting of a pachygyria-type cortical migration disorder, septal and corpus callosum defects and severe hypoplasia of the pons in 7 of them.

Adolescent↗

PubMed2004

Antenatal and postnatal brain magnetic resonance imaging in muscle-eye-brain disease.

BACKGROUND: Muscle-eye-brain disease (MEB) is a rare autosomal recessive disorder characterized by congenital muscular dystrophy, structural eye abnormalities, and type II lissencephaly. Previous reports of brain abnormalities on magnetic resonance images (MRIs) in MEB have been in children older than 1 year. OBJECTIVE: To describe serial antenatal and postnatal brain MRIs in a child with MEB. DESIGN: Case report. PATIENT: We report a 2-year-old white boy with genetically confirmed MEB. Antenatal MRIs at 25 and 35 weeks' gestation showed posterior ventriculomegaly but no cortical dysplasia. A postnatal brain MRI at age 1 week showed frontal cortical dysplasia and abnormal signal intensity within the frontal white matter. A brain MRI at 8 months showed bilateral frontoparietal polymicrogyria. All images demonstrated flattening of the pons and mild hypoplasia of the inferior vermis. The child had no weakness, and muscle involvement was only suspected when the serum creatine kinase level was found to be elevated at age 8 months. CONCLUSION: Cortical dysplasia in MEB may not be evident until several postnatal months; therefore, if MEB is suspected, brain MRI performed in the first few months of life should be interpreted with caution.

Brain↗