1/10. cerebral infarction in Menkes' disease.Menkes' disease is an X-linked disorder caused by impaired intracellular transport of copper. Currently, no therapy effectively arrests the relentless neurodegeneration of Menkes' disease. Previous neuroimaging reports of patients with Menkes' disease describe a range of abnormalities, including intracranial vessel tortuosity and cerebral white matter changes. We report two infants with Menkes' disease who developed ischemic cerebrovascular disease early in infancy. Magnetic resonance studies, including diffusion-weighted imaging and proton magnetic resonance spectroscopy, demonstrated bilateral infarctions of deep gray matter nuclei, a finding not previously described in Menkes' disease. Potential mechanisms for these cerebrovascular lesions in Menkes' disease include the susceptibility to free radical attack and inadequate energy supply from oxidative phosphorylation. These infarctions may play an unrecognized but important role in the neurodegeneration of children with Menkes' disease. The development of effective therapeutic agents against this disease will require a more detailed understanding of such underlying mechanisms.- - - - - - - - - - ranking = 1keywords = vessel (Clic here for more details about this article) |
2/10. Menkes' disease with a Dandy-Walker variant: case report.We report a boy with Menkes' disease in whom MRI revealed delayed myelination of the white matter, brain atrophy and tortuosity of the intracranial vessels. The characteristic MRI features of Menkes' disease were accompanied by a Dandy-Walker variant.- - - - - - - - - - ranking = 1keywords = vessel (Clic here for more details about this article) |
3/10. Abnormality of vascular elastic fibers in the macular mouse and a patient with Menkes' disease: ultrastructural and immunohistochemical study.The macular mouse is a mutant mouse with the same gene abnormality as that of Menkes' disease, and it exhibits symptoms and abnormalities similar to those of Menkes' disease. In an electron microscopic study, we examined morphological changes in the internal elastic lamina (IEL) of the elastic arteries (EA) and the muscular arteries (MA) in a patient with Menkes' disease and in the macular mouse, an animal model of this disease. The IEL of the EA was significantly thinner in the macular mouse than that in controls, but the IEL of the MA in the macular mouse was significantly thicker than that of the controls. These contrary results for the thickness of the IEL in the MA and the EA in this animal model of Menkes' disease may reflect differences in the anatomical and pathophysiological properties of the two types of vessels.- - - - - - - - - - ranking = 1keywords = vessel (Clic here for more details about this article) |
4/10. Serial MR studies in Menkes disease.We describe a characteristic combination of findings in a patient with Menkes disease who was serially imaged with magnetic resonance over 2 months. Abnormal intracranial vessels were demonstrated as was the progression of white matter disease.- - - - - - - - - - ranking = 1keywords = vessel (Clic here for more details about this article) |
5/10. Menkes disease--an autopsy case with metal analysis of hair.We report the first case of Menkes' disease in korea, occurring in a 1 1/2 year old boy with characteristic clinical, arteriographic and pathologic features. Postmortem examination revealed widespread neuronal destruction and abnormally tortuous and elongated large arteries including cerebral, visceral and limb vessels. Microscopically, many of the hairs formed were twisted (pili torti), of varying caliber (monilethrix), and fractured (trichorrhexis nodosa). In the radioactivated analysis of scalp hair, copper elements was not found. The abnormal vessels were characterized by fragmentation and disruption of the internal elastic lamina with intimal proliferation. The neuronal destruction was widespread in the cerebral gray matter and in the cerebellum, and there was associated gliosis. The changes in the cerebellum were particularly severe, with neuronal loss in the internal granular cell layer. Many purkinje cells were lost, and the remainder showed unusual dendritic sprouts from the cell body and grotesque proliferation of dendritic tree. In other organs, mild chronic peribronchitis, and scattered foci of immature glomeruli in renal cortex were noted.- - - - - - - - - - ranking = 2keywords = vessel (Clic here for more details about this article) |
6/10. copper-measurement in a muscle-biopsy. A possible method for postmortem diagnosis of Menkes disease.A 5-month-old boy showed severe delay in mental and motor development. His hair was normal. He died at 18 months from bronchopneumonia. autopsy of the brain revealed meningo-cerebral angiodysplasia with tortuous vessels at the surface of the brain. This raised a suspicion of Menkes disease. A muscle-biopsy, the only remaining tissue from the patient, showed an increased copper-content, thus corroborating the suspicion of Menkes disease. copper-uptake studies on 2 independent repeatedly tested fibroblast-cultures from the mother gave normal values in 4 and elevated levels in three tests. Such a pattern is often seen in carriers of Menkes disease. Furthermore one of the test values was above the critical limit. Just one value above this limit for females from families with Menkes disease will unequivocally classify a woman as a carrier irregardless of her genetic risk. This is to our knowledge the first time copper-measurements in tissues have been used to establish a post-mortem diagnosis of Menkes disease.- - - - - - - - - - ranking = 1keywords = vessel (Clic here for more details about this article) |
7/10. CT scans in Menkes disease.The clinical courses and serial computerized tomography (CT) scans of four patients with Menkes disease are described. Although the initial clinical presentations were similar, head growth and serial CT scans showed striking individual differences. The CT scans varied from showing no abnormalities early in the disease to showing diffuse cortical atrophy, subdural accumulation of fluid, or multifocal areas of ischemic infarction. The pathologic findings in one patient showed only cerebral and cerebellar atrophy, whereas the findings in another patient showed areas of ischemic infarction, probably secondary to abnormal vessels. Menkes disease should be suspected in male infants with psychomotor deterioration and seizures, or when trauma is suspected from subdural hematoma and multiple fractures.- - - - - - - - - - ranking = 1keywords = vessel (Clic here for more details about this article) |
8/10. CT manifestations of Menkes' kinky hair syndrome (trichopoliodystrophy).A patient with Menkes' syndrome is reported. This patient has survived to the age of six years without mental retardation, and shows previously unreported computed tomographic (CT) findings of tortuous vessels and unusual osseous manifestations of undertubulation of long bones and posterior vertebral body scalloping.- - - - - - - - - - ranking = 1keywords = vessel (Clic here for more details about this article) |
9/10. Cranial MRI and MR angiography in Menkes' syndrome.We report two boys with Menkes' syndrome who underwent cranial MRI and MR angiography (MRA). In both, CT and MRI revealed progressive cerebral atrophy with a subdural haematoma or effusion. Delayed myelination or dysmyelination of the white matter was suggested. Tortuosity of the cervical and intracranial vessels was well demonstrated by MRA, obviating more invasive conventional angiography should it be thought necessary to demonstrate the characteristic systemic vascular changes of this syndrome.- - - - - - - - - - ranking = 1keywords = vessel (Clic here for more details about this article) |
10/10. Urologic abnormalities in Menkes' kinky hair disease: report of three cases.Menkes' kinky hair disease is a rare congenital disorder of copper metabolism with X-linked recessive inheritance. It is well known that it is frequently associated with urologic abnormalities. The authors experienced three such cases, but each of them was different. Multiple bladder diverticula, right vesico-ureteral reflux, and right hydronephrosis were noted on the first baby boy. In the second case, hematomas in the left kidney, pelvis, ureter and the adipose capsule, which were thought to be the abnormality of vessels, were noted in the neonatal period. In the third body, multiple bladder diverticular were noted at the age of 1 year. One year, 10 months later, a spontaneous rupture at the huge diverticulum occurred.- - - - - - - - - - ranking = 1keywords = vessel (Clic here for more details about this article) |
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