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T Voit

Publications and source records attributed to T Voit.

124 records · Page 7Linked to original sources
PubMed1988

Myopathy with unique ultrastructural feature in Marinesco-Sjögren syndrome.

We have investigated 3 children aged 6, 3, and 2 years, from 2 families, with the clinical features of Marinesco-Sjögren syndrome. Muscle biopsy specimens from all 3 were abnormal and showed small vacuoles and slight variation in fiber size. Electron microscopy revealed vacuolation and membranous whorls and, in particular, a unique dense membranous structure associated with nuclei. These cases emphasize the involvement of muscle in Marinesco-Sjögren syndrome and the importance of electron microscopy in differential diagnosis.

Biopsy↗
PubMed1988

Binding of Ricinus communis I lectin to developing dystrophic muscle in human fetus.

In previous studies it was shown that a D-galactose-specific lectin, Ricinus communis I (RCA I), does not bind to the plasma membrane of muscle fibres from patients with Duchenne muscular dystrophy (DMD) in contrast to normal muscle. We have now studied RCA I binding to the membranes of developing human fetal muscle in fetuses at 95% risk of DMD (n = 6) and normal controls (n = 5) with a developmental range of 12-20 weeks of gestation. The results were compared to the membrane appearance with conventional ultrastructure. Binding of RCA I to the muscle basement membrane was consistently strong from the early stages of myogenesis, such as in fusing myoblasts/myocytes. RCA I binding to the plasma membrane was weak but detectable in both DMD and normal fetuses at 12-14 weeks of gestation. Both the normal and diseased condition showed an increase of RCA I labelling of the muscle plasma membrane at 15-17 weeks and strong labelling at 18-20 weeks of gestation. No difference was observed in the RCA I localization of normal and diseased human fetal muscle plasma membrane. It is concluded that (a) the plasma membrane in developing fetal muscle undergoes a maturation process between 12 and 20 weeks gestational age leading to an increase in expression of RCA I binding carbohydrate moieties; and (b) that the absence of RCA I binding glycoprotein in mature DMD muscle plasma membrane reflects a change acquired during the course of disease.

Cell Membrane↗
PubMed1988

Dystrophin and nebulin in the muscular dystrophies.

Skeletal muscle from patients with 5 different forms of muscular dystrophy and from 6 fetuses at high risk (95%) for Duchenne muscular dystrophy (DMD) were probed with specific antibodies for the presence of dystrophin and nebulin. Dystrophin was absent in all 5 patients with DMD and 4 of 6 fetuses at high risk for DMD and present in trace amounts in the remaining two. Dystrophin was also undetectable in one borderline DMD/Becker muscular dystrophy (BMD) case and reduced in 2 of 4 cases of BMD. In contrast, dystrophin was present in all 16 biopsies from 4 other types of muscular dystrophy (congenital, limb girdle, Emery-Dreifuss and facioscapulohumeral). Nebulin profiles varied with the type, severity and duration of the dystrophic process. Nebulin was present in 5 of 6 DMD fetal samples but vastly reduced or absent in all samples of clinically manifest DMD.

Adolescent↗
PubMed1988

Emery-Dreifuss muscular dystrophy: disease spectrum and differential diagnosis.

We report six patients with Emery-Dreifuss muscular dystrophy (EDMD) and four patients including one female with EDMD phenotype (EDMDP). This series includes one sporadic case who had previously been reported in this journal under the diagnosis of "rigid spine syndrome" in 1977. Time of observation ranged from three to ten years. Detailed cardiological assessment was performed in all patients, skeletal muscle biopsies were obtained from 9 out of 10 and cardiac muscle biopsies from 2 out of 10 patients. One patient showed evidence of cardiomyopathy in the absence of clinically apparent neuromuscular disease and one sibling of another EDMD patient reportedly had a similar combination of symptoms which, to our knowledge, has not yet been reported. Cardiac involvement was found to consist of four independent, albeit often combined features: 1) impairment of impulse generating cells; 2) conduction defects with atrial preponderance; 3) increased atrial and ventricular heterotopia; and 4) functional impairment of ventricular myocardium. Ventricular involvement as apparent from ventricular heterotopia, abnormal enddiastolic diameter, decrease of contractility and/or morphological evidence of ventricular myocardial disease was found in 7 out of 10 patients and confirmed by myocardial histopathology in two EDMD patients. In one myocardial biopsy extensive accumulations of intermediate filaments were observed, a rare finding, which has not been linked to EDMD before. Skeletal muscle biopsies showed evidence of myopathy throughout but several equivocal features such as fibre type grouping in EDMD and fibre type disproportion in EDMDP were also observed. The variability of clinical manifestation of both cardiac and neuromuscular disease encompassed a broader spectrum than apparent from the literature. The consequences for the inherent differential diagnosis are discussed.

Adolescent↗
PubMed1987

Neurological manifestations in three German children with AIDS.

We report the neurological findings in two children with AIDS and one child with lesser AIDS. The first patient developed acute encephalopathy 37 months after having received a blood transfusion from a HTLV-III positive donor. CCT showed ring-enhancement and hypodense lesions with homogenous enhancement. Autopsy revealed CNS toxoplasmosis. The second child with AIDS, born to an iv drug-addicted mother, had one seizure at four months of age, but other neurologic signs were absent. She died of pneumonia due to Pneumocystis carinii at seven months of age. Postmortem examination of the brain revealed extensive nerve cell damage in the cerebral cortex and cerebellum, probably due to terminal hypoxemia and not AIDS-related. In both children clinical features of childhood AIDS like failure to thrive, lymphadenopathy, oral thrush and chronic pulmonary infiltrates were absent. The hallmark of the third child's clinical course was a progressive loss of psychomotor abilities with onset of the neurological symptoms nine months before other signs of AIDS occurred. AIDS should be suspected or excluded in children at increased risk for AIDS presenting with either acquired atypical CNS infection or unexplained developmental regression, even in the absence of other clinical symptoms of pediatric AIDS.

Acquired Immunodeficiency Syndrome↗
PubMed1987

Damage of thalamus and basal ganglia in asphyxiated full-term neonates.

Thalamic-striatal damage of symmetric bilateral distribution was found in four severely asphyxiated neonates born at term. Two patients showed evidence of bilateral thalamic-striatal necrosis and two showed hemorrhage of the same distribution. The four patients had a common history of prolonged asphyxia in the neonatal period combined with severe acidosis and respiratory insufficiency. The outcome was lethal in all children. Three patients survived for some time and showed additional evidence of generalized brain damage including cortical necrosis and subcortical leucomalacia and one patient was found to have intravital calcification of the putamen at 14 days of age. The appearance of thalamic-striatal damage in US, CCT and NMR imaging is discussed. Thalamic-striatal damage may not be detectable by US until several days after the initial insult. US does not permit a distinction between necrosis and hemorrhage, but CCT and NMR imaging may be successful. Only five infants with a comparable pattern of brain damage due to asphyxia have been described so far. Our own studies seem to indicate that thalamic-striatal damage is the hallmark of more widespread brain damage, and that it will be found more frequently if carefully looked for in asphyxiated neonates born at term.

Asphyxia Neonatorum↗
PubMed1986

Hearing loss in facioscapulohumeral dystrophy.

Bilateral sloping high frequency hearing loss of 20-90 dB was found in six out of ten patients with infantile or adolescent onset FSHD. In all cases the basic defect could be traced to the cochlea. The outer hair cells of the basal turn are predominantly affected. In 20 patients with various other forms of muscular dystrophy or neuromuscular disorders with an FSH distribution, no sensorineural hearing loss was found. Myopathology of FSHD patients extended from mild to severe, often showing inflammatory infiltrates and type I fibre atrophy, without unequivocal differences between the two groups with and without hearing loss. It is concluded that cochlear dysfunction is a specific and frequent phenomenon of early onset FSHD.

Adolescent↗
PubMedDate not supplied

Pallister-Killian syndrome in older children and adolescents.

The Pallister-Killian syndrome is caused by a mosaic tetrasomy of the short arm of chromosome 12. Although analysis of peripheral blood lymphocytes usually reveals a normal karyotype, an isochromosome 12p mosaicism is detectable in fibroblast cultures; therefore, in this rare chromosomal aberration, clinical recognition is crucial for appropriate cytogenetic investigations. The phenotype of younger children has already been well documented. During childhood and adolescence, however, the phenotype changes markedly. The disorder in older children and young adults is characterized by a coarse and flat facies, macroglossia prognathia, everted lower lip, and severe psychomotor retardation with muscular hypertonia and contractures. Two severely mentally retarded patients are reported whose diagnoses were confirmed by fibroblast cultures at ages 16 and 21 years.

Abnormalities, Multiple↗
PubMedDate not supplied

Dystrophin and dystrophin-related protein (utrophin) distribution in normal and dystrophin-deficient skeletal muscles.

The respective localizations of dystrophin and dystrophin-related protein (DRP or utrophin) along the sarcolemmal membrane and at the neuromuscular junctions (NMJs) in normal and dystrophin-deficient skeletal muscles, were determined using confocal laser microscopy. The analysis was prompted by the recent availability of a new anti-utrophin mAb [Bewick et al. NeuroReport 1992; 3:857-860] and different mAbs that react with dystrphin or both dystrophin and utrophin. In dystrophin-deficient muscles, utrophin was expressed and detectable over large subcellular areas normally occupied by dystrophin along the sarcolemmal membranes and at the NMJs. Utrophin was expressed in a non-uniform, discontinuous way on the sarcolemmal membrane in dystrophin-deficient skeletal muscles, similar to dystrophin in normal muscle fibres. The respective distributions of both related muscle proteins and their positions relative to the alpha-bungarotoxin acetylcholine (ACh) receptor marker were determined. Double-staining experiments and superimposition of the confocal images showed that utrophin was more closely associated with ACh receptors than dystrophin at the NMJs in normal muscles. Utrophin distribution consequently differed from that of dystrophin.

Adolescent↗
PubMedDate not supplied

[The bobble head doll syndrome].

A 4,1 year old girl with bobble head doll syndrome is described. The child showed the typical 2-3 per second anterior-posterior movements of the head. The girl had a retarded motor development and retarded growth. On CT scan we found a cyst within the third ventricle and a hydrocephalus of the lateral ventricles. To reduce the hydrocephalus we implanted a ventricular-cardial low pressure shunt system. Repeated emptying of the cyst via an Ommaya reservoir had no long-term effect. Implantation of a cysto-peritoneal shunt-system led to a reduction of the cyst (determined by CT scan) and an improvement of the symptoms.

Cerebrospinal Fluid Shunts↗
PubMedDate not supplied

[Treatment results of modified Glorion-Rideau release in Duchenne muscular dystrophy].

Although the cause of Duchenne muscular dystrophy has been recently found, there is no causal treatment to alter the natural course of this disease. Based on the recommendations by Glorion and Rideau with early treatment of contractures of the hips and the lower limbs we performed a modified release of the spina muscles, resection of tensor fasciae latae and a lengthening of the tendo calcaneus in 32 patients. The mean ae of DMD patients at time of operation was 6.1 yrs. The mean follow-up was 3.4 yrs. All children underwent mobilization the day after surgery. Complete correction of all contractures was immediately achieved after operation and kept in all but two cases up to the follow-up examination. No loss of ambulation was observed. Our results demonstrate that early selective surgery in DMD patients before or just at the onset of contractures without performing an additional aponeurectomy of the iliotibial band and percutaneous tenotomy of the hamstrings according to the original Glorion-Rideau-technique safely prevents severe contractures and should prolong ambulation.

Achilles Tendon↗
PubMedDate not supplied

Neonatal myotonic dystrophy in a premature infant: clinical and morphological findings.

We report a case of neonatal myotonic dystrophy in a premature infant of 34 weeks gestation. The striking pathological feature in muscle biopsy was severe generalized fiber hypotrophy. Histochemical stains for myofibrillar ATPase revealed a uniform fiber type of intermediate staining characteristics (Type II C). Oxidative preparations showed a light peripheral sarcoplasmic halo without enzymatic activity in most fibers. Ultrastructurally, fiber periphery consisted of a sarcoplasmic rim devoid of myofibrils and mitochondria and rich in glycogen granules and some vesicles. Satellite cells were numerous. Pathologic findings characteristic of the adult form of the disease were lacking. These morphological features were interpreted as a marked delay in fetal muscle maturation. The purpose in this paper is to present the unique pattern of myopathologic findings.

Adenosine Triphosphatases↗
PubMedDate not supplied

Immunohistologic and electron microscopic abnormalities of desmin and dystrophin in familial cardiomyopathy and myopathy.

A 52-year-old man had a cardiomyopathy for 22 years as had his brother. Both required pacemakers. For the past 12 years, he also suffered from increasing muscle weakness. His muscle fibres contained granulo-filamentous material as previously seen in muscle fibres of a French family with myopathy and cardiomyopathy. It was rich in desmin, alpha-B crystallin, and dystrophin, the connotation, pathogenesis, and common denominator of which, however, remain unexplained.

Cardiomyopathy, Dilated↗
PubMedDate not supplied

Special techniques in diagnostic myopathology.

While muscle biopsy has been standardized since the introduction of electron microscopy, histochemistry, and morphometry into diagnostic myopathology, additional diagnostic techniques have recently been added. Immunomorphologic methods-firmly established in oncology long ago-are beginning to be applied in diagnostic myopathology. These methods concern the evidence of intermediate filaments in regenerating and denervated fibers as well as in certain myopathies marked by intermediate filament-related inclusions such as cytoplasmic bodies, spheroid bodies, or Mallory body-like inclusions. The connotation of the immunomorphologic approach is further emphasized by the discovery of dystrophin, a normal protein within muscle fibers which is deficient in Duchenne's and Becker's muscular dystrophies resulting in the now-standard examination of dystrophin in muscle biopsy specimens. It is to be expected that immunomorphologic techniques will rapidly develop further, depending on the isolation of muscle-and disease-specific proteins or defective proteins and the availability of antibodies against these proteins. It is conceivable that immunohistological diagnostic methods in myopathology may, one day, render currently established techniques obsolete.

Biopsy↗