1/13. A novel form of familial congenital muscular dystrophy in two adolescents.We report on two brothers (the product of first-degree consanguineous marriage; aged 15 and 12 years) who presented with severe hypotonia at birth, proximal muscle weakness associated with delayed motor milestones but normal cognitive function. Investigations (at 4 years of age) revealed mildly elevated serum creatine kinase (CK) levels (300 and 824 IU/l; N < or = 210). Muscle biopsies showed minimal change myopathy, no neurogenic atrophy but remarkable type-1 fibre predominance (up to 85.5%) without fibre-type disproportion. Clinical examination at 12 and 9 years, respectively, showed mild facial weakness and high-arched palate in both patients. The younger sibling also had ptosis but otherwise normal external ocular muscles. They showed symmetric proximal muscle weakness and wasting associated with calf-muscle hypertrophy. They could walk independently. A repeat muscle biopsy showed advanced dystrophic changes in the younger patient at the age of 10 years. Virtually all the remaining fibres were type 1. immunohistochemistry revealed normal expression of the dystrophin-glycoprotein complex (DGC), including dystrophin, beta-dystroglycan, alpha-(adhalin), beta-, gamma-, and delta-sarcoglycan, laminin-alpha2 chain (merosin) and syntrophin. Mild dystrophic features and type-1 fibre predominance (92.5%) were seen in the biopsy of the older patient, whereas immunohistochemistry showed normal expression of the DGC. Both cases also showed clear expression of integrin alpha7 at the muscle fibre surface and in the blood vessels. Three years later, they could still walk, but with difficulty, and the older brother showed enlargement of the tongue and echocardiographic features of left ventricular dilated cardiomyopathy.- - - - - - - - - - ranking = 1keywords = vessel (Clic here for more details about this article) |
2/13. Merosin-deficient congenital muscular dystrophy associated with abnormal cerebral cortical gyration: an autopsy study.We report clinical, biopsy and autopsy findings in a merosin-deficient congenital muscular dystrophy (CMD) infant with abnormal cortical gyration. Brain showed polymicrogyria and occipital agyria with marginal neuroglial heterotopia and inferior vermis hypoplasia. There was a normal pattern of myelination consistent with early age. laminin alpha 2 chain was also absent in myocardium, brain pial-glial membrane, brain and skin blood vessels as well as intramuscular and skin nerves. Occasional basal lamina gaps were found in muscle fibres but not in brain-blood vessels. This is the first autopsy study in a merosin-deficient CMD case with abnormal cortical gyration.- - - - - - - - - - ranking = 2keywords = vessel (Clic here for more details about this article) |
3/13. A homologue of dystrophin is expressed at the blood vessel membrane of DMD and BMD patients: immunological evidence.muscles from Becker muscular dystrophy (BMD) and Duchenne muscular dystrophy (DMD) patients were analysed using monoclonal and polyclonal antibodies raised against different regions of the dystrophin molecule. On blot, two of the antibodies detected a protein of Mr 400K in muscle extracts from all patients, including a BMD patient with a deletion which spanned more than 40% of the central rod domain of the Xp21 encoded dystrophin. Immunocytochemical labelling of tissue sections from the same patients showed that the same two antibodies labelled a protein at the surface membrane of smooth muscle fibers in blood vessels of both BMD and DMD muscles. Thus we have demonstrated a 400K blood vessel-associated protein, which is immunologically homologous with dystrophin, for at least two epitopes from the carboxy terminal and the central rod domains must be encoded by another gene than the dystrophin gene.- - - - - - - - - - ranking = 6keywords = vessel (Clic here for more details about this article) |
4/13. Leber's congenital amaurosis with Duchenne's muscular dystrophy.We studied a family with Leber's congenital amaurosis and Duchenne's muscular dystrophy. One son, the proband, was noted to be blind from shortly after birth and had absent pupillary reflexes, attenuation of retinal blood vessels and pigmentary changes of the retina. He manifested Duchenne's muscular dystrophy at 6 years of age and died of its complication--severe respiratory failure--at 21 years of age. His older brother also was blind since birth, with absent pupillary light reflexes and an extinguished electroretinogram in both eyes. The proband's younger brother with Duchenne's muscular dystrophy died following respiratory failure. Their oldest brother was apparently unaffected. Their mother and sister were proven carriers of Duchenne's muscular dystrophy and a maternal uncle and great-uncle also died from this condition. The parents were consanguineous, third generation cousins.- - - - - - - - - - ranking = 1keywords = vessel (Clic here for more details about this article) |
5/13. Cerebellar micropolygyria in Fukuyama congenital muscular dystrophy: observations in fetal and pediatric cases.Cerebeller micropolygyria in Fukuyama congenital muscular dystrophy (FCMD) was examined neuropathologically by three-dimensional reconstruction and immunohistochemistry in one fetal and two children's cases. In the children's cases, a complex columnar network of the molecular layer was mixed with clusters of the granular cell layers, often associated with central blood vessels. Although primitive, cortical dysplasia was also obvious in the fetal cerebellum at 23 weeks of gestation. Ectopic glial proliferation was less extensive than that in the cerebral cortex. It is suggested that leptomeningeal disruption, superficial proliferation of mesenchymal tissue and subsequent mixture of neuroglial and mesenchymal tissues, which may occur transiently during the fetal period in the developing FCMD cerebellum as well as in the cerebrum, play substantial roles in the development of cerebellar cortical dysplasia.- - - - - - - - - - ranking = 1keywords = vessel (Clic here for more details about this article) |
6/13. Congenital muscular dystrophy of the Fukuyama type (FCMD) with severe myocardial fibrosis. A case report with postmortem angiography.autopsy findings of a 17-year-old Japanese male with the typical features of congenital muscular dystrophy of the Fukuyama type (FCMD) are presented. This case showed progressive muscular dystrophy and central nervous system malformation, accompanied by severe myocardial fibrosis. Large mitochondrial dense bodies were found in both the cardiac and skeletal muscle cells. Postmortem coronary angiography failed to reveal the presence of any obstructive lesions responsible for myocardial fibrosis. It was also demonstrated that abnormal vessels proliferating in an area of micropolygyria (MPG) in the cerebrum were branches of the cortical artery originating from the pia mater. The cerebral malformation was accompanied by basal skull deformities.- - - - - - - - - - ranking = 1keywords = vessel (Clic here for more details about this article) |
7/13. Facioscapulohumeral dystrophy with cochlear hearing loss and tortuosity of retinal vessels.We report on a mother and her three children with facioscapulohumeral dystrophy (FSHD), sensorineural hearing loss, and marked tortuosity of the retinal vessels. Initially the children presented with speech difficulties and hearing deficit. hearing loss ranged from mild to severe. An audiologic evaluation, including brain stem auditory evoked responses in all patients, indicated a cochlear origin of hearing loss and intact pathways from the cochlea to the temporal lobe. The association of FSHD with hearing loss and tortuosity of the retinal vessels suggests previously unrecognized pleiotropy of FSHD (McKusick 15890) or a "new" type of FSHD.- - - - - - - - - - ranking = 6keywords = vessel (Clic here for more details about this article) |
8/13. retinal telangiectasis in facioscapulohumeral muscular dystrophy with deafness.A 22-year-old patient with newly diagnosed facioscapulohumeral (FSH) muscular dystrophy had a macular lesion in her right eye and poor central vision, which had been present since early childhood. Fluorescein angiographic examination revealed bilateral peripheral vessel closure, peripheral retinal telangiectasis, and hyperfluorescence in both foveae. This widespread vascular abnormality was deemed responsible for her macular disease. Her mother, brother, and sister, all of whom are affected by varying degrees of FSH muscular dystrophy and clinical deafness, also have abnormal retinal vasculature, as determined by fluorescein angiography. However, none had related visual symptoms and two showed no ophthalmoscopic evidence of vascular abnormalities. In young patients with unexplained retinal vascular lesions, the diagnosis of FSH muscular dystrophy should be considered. Similarly, young patients with FSH muscular dystrophy should be examined for sight-threatening and potentially treatable vascular retinopathy.- - - - - - - - - - ranking = 1keywords = vessel (Clic here for more details about this article) |
9/13. Moya-moya disease: clinical and pathological report of a case with associated myopathy.A British born white man, age 51 years, presented with cerebrovascular insuffciency, and was found radiologically to have moya-moya disease. He also suffered from a let onset type of progressive myopathy. Five months after the first signs of cerebrovascular disease he died of massive cerebellar infarction. At necropsy the brain showed multiple old and recent infarctions. The anterior cerebral, middle cerebral, and posterior communicating arteries showed segments of narrowing and occlusion by delicate connective tissue, with marked thickening and folding of the elastic lamina. Many dilated thin-walled vessels without a muscle layer and with a poorly formed elastic lamina were present in the subarachnoid space, these probably being newly formed collateral vessels. The cause of the occlusive lesions affecting the cerebral arteries is not known but the morphological appearances do not fall within any known aetiology. It seems that moya-moya disease could be regarded as a distinct entity.- - - - - - - - - - ranking = 2keywords = vessel (Clic here for more details about this article) |
10/13. Ocular manifestations of congenital muscular dystrophy (Fukuyama type).Ocular manifestations in two cases of congenital muscular dystrophy of Fukuyama type were reported. This disease is characterized by early onset of hypotonia, generalized muscle weakness and atrophy, mental retardation, and elevated serum creatine-phosphokinase activity. The symptoms include entropion of lower lids, pathological myopia with astigmatism, optic nerve pallor, and irregular grayish subretinal mottling. Case 1 showed additional features of posterior staphyloma, dragged papillomacular vessels, peripheral grayish-white discoloration of the retina, and rete mirabile as well as abnormal vascular anastomosis.- - - - - - - - - - ranking = 1keywords = vessel (Clic here for more details about this article) |
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