1/14. Merosin-deficient congenital muscular dystrophy with mental retardation and cerebellar cysts unlinked to the LAMA2, FCMD and MEB loci.We report a case of congenital muscular dystrophy with secondary merosin deficiency, structural involvement of the central nervous system and mental retardation in an 8-year-old girl from a consanguineous family. She had early-onset hypotonia, generalized muscle wasting, with weakness especially of the neck muscles, joint contractures, mental retardation and high creatine kinase. Muscle biopsy showed dystrophic changes with partial deficiency of the laminin alpha(2) chain. Cranial magnetic resonance imaging revealed multiple small cysts in the cerebellum, without cerebral cortical dysplasia or white matter changes. The laminin alpha(2) chain (6q2), Fukuyama type congenital muscular dystrophy (9q31-q33) and muscle-eye-brain disease (1p32-p34) loci were all excluded by linkage analysis. We suggest that this case represents a new entity in the nosology of congenital muscular dystrophy.- - - - - - - - - - ranking = 1keywords = white (Clic here for more details about this article) |
2/14. Non-progressive leukoencephalopathy with bilateral temporal cysts.We report two cases of a peculiar leukoencephalopathy with temporal cysts. Both patients have a non-progressive neurological disorder with mental retardation, microcephaly and sensorineural deafness although clinical differences between them may reflect a different aetiology. The metabolic disorders with white matter involvement and the recently described leukoencephalopathies (Van Der Knaap disease, 'vanishing white matter disease') were excluded based on clinical, biologic and imaging findings. cytomegalovirus infection is a likely possibility in the first case although the magnetic resonance imaging picture is only partially similar to previously reported cases. Our patients are strikingly similar to the patients reported by Deonna et al. and Olivier et al. We discuss the clinical and imaging findings in our patients and the differential diagnosis considering the known disorders of the white matter in childhood.- - - - - - - - - - ranking = 3keywords = white (Clic here for more details about this article) |
3/14. Multiple cysts in the cerebral white matter: a rare complication of whole brain radiation therapy.We describe a patient with multiple cysts in the cerebral white matter, several years after whole brain radiation therapy (WBRT) for a solitary cerebellar metastasis of a lung carcinoma. MR images of the brain show diffuse white matter changes, 1 year after radiation, and cyst formation in the white matter, starting 3.5 years later. We conclude that cysts in the cerebral white matter can be a late stage of white matter damage after whole brain radiation therapy in long-term survivors with brain metastases.- - - - - - - - - - ranking = 9keywords = white (Clic here for more details about this article) |
4/14. Lateral supratentorial endodermal cyst: case report and review of literature.OBJECTIVE AND IMPORTANCE: Epithelial cysts of the central nervous system are unusual entities, with the majority reported to occur in the spinal canal. More unusual is the intracranial presentation, which shows a predilection for midline localization in the posterior fossa, brainstem, and suprasellar regions. This report discusses the differential diagnosis, pathogenesis, radiographic presentation, and therapeutic considerations of a laterally positioned cerebral convexity endodermal cyst. CLINICAL PRESENTATION: A 49-year-old right-handed man presented with approximately a 30-month history of short- and long-term memory difficulties. A magnetic resonance imaging study revealed a large, nonenhancing, extra-axial cystic lesion overlying the right lateral frontal convexity. INTERVENTION: A right frontoparietal craniotomy exposed a large extra-axial cyst with an opaque, yellowish-white membrane containing a mucoid fluid. Histological analysis disclosed a layer of unremarkable, ciliated columnar epithelium with a basement membrane that stained positive for cytokeratin, periodic acid-Schiff, and alcian blue. No evidence of either a muscular or cartilaginous layer around the mucosa was present to further delineate neurenteric versus bronchogenic origin of the cyst. CONCLUSION: This case involved the occurrence of a solitary endodermal cyst as an extra-axial mass localized over the lateral frontal lobe. The lateral supratentorial localization of this lesion illustrates the need for consideration of the pathogenesis of this entity as well as its diagnostic differentiation from other cystic abnormalities in this region. A review of the histochemistry of endodermal, neuroepithelial, and other cerebral cysts is presented.- - - - - - - - - - ranking = 1keywords = white (Clic here for more details about this article) |
5/14. Cyst-like cerebral lesions in tuberous sclerosis.Known brain manifestations of tuberous sclerosis (TSC) are cortical sclerotic tubera, giant cell astrocytomas, subependymal calcified nodules in the lateral walls of the lateral ventricles, and white matter heterotopias. In addition, small cyst-like lesions in the white matter have been described. We report on three TSC patients with hitherto undescribed large cyst-like cerebral lesions in subcortical and white matter locations. We emphasize that cystoid brain degeneration is a rare but typical cerebral manifestation of TSC and suggest that, in patients with such lesions, TSC should be taken into consideration.- - - - - - - - - - ranking = 3keywords = white (Clic here for more details about this article) |
6/14. Merosin-deficient congenital muscular dystrophy with mental retardation and cerebellar cysts, unlinked to the LAMA2, FCMD, MEB and CMD1B loci, in three Tunisian patients.We report three Tunisian patients affected by congenital muscular dystrophy with mental retardation and cerebellar cysts on cranial magnetic resonance imaging. The clinical features were characterized by hypotonia at birth, joint contractures associated with severe psychomotor retardation, absence of speech, inability to walk in three patients, but calf hypertrophy was noted only in two patients. brain magnetic resonance imaging showed several cerebellar cysts and vermis hypoplasia in all of the patients. Abnormality of the white matter was present in two patients. The pattern of gyration was normal in all cases. serum creatine kinase was elevated in all three cases and their muscle biopsy showed dystrophic changes compatible with congenital muscular dystrophy. The immunohistochemical analysis of the skeletal muscle revealed partial merosin deficiency, more pronounced for the N-terminal antibody. Linkage analysis excluded congenital muscular dystrophy loci on chromosomes 6q22, 9q31, 1p32 and 1q42. These patients constituted a particular form of congenital muscular dystrophy with a combination of severe motor delay, mental retardation, partial merosin deficiency and cerebellar cysts. Two patients showed white matter abnormalities on magnetic resonance imaging and hypertrophy of the calves. These cases, in addition to those reported previously, confirmed the large phenotypic variability in the group of secondary merosin deficiency congenital muscular dystrophy.- - - - - - - - - - ranking = 2keywords = white (Clic here for more details about this article) |
7/14. Bilateral temporal cysts in a case of subacute sclerosing panencephalitis.magnetic resonance imaging in subacute sclerosing panencephalitis (SSPE) usually demonstrates changes in white matter signal intensity, cerebral atrophy, or, in early disease, normal findings. We observed bilateral cystic temporal lobe lesions in a patient with early stage SSPE. Other degenerative conditions associated with such lesions were ruled out based on a normal head circumference, the absence of white matter changes, and normal cerebrospinal fluid lactate level. This observation suggests the inclusion of SSPE in the differential diagnosis of cystic white matter lesions.- - - - - - - - - - ranking = 3keywords = white (Clic here for more details about this article) |
8/14. Megalencephalic leukoencephalopathy with subcortical cysts: MRI and proton spectroscopic features.Megalencephalic leukoencephalopathy with subcortical cysts (MLC) is a rare, recently described disease. It is characterized clinically by a large head, mild neurological symptoms and a remarkably slow course of functional deterioration. The MRI is characterized by 'swollen white matter' and large symmetrical cystic changes in the cerebral hemispheres. MLC should be considered in the differential diagnosis of children with megalencephaly and leukoencephalopathy. We report a child with this disease and discuss the MRI and MRS features.- - - - - - - - - - ranking = 1keywords = white (Clic here for more details about this article) |
9/14. Hereditary porencephaly: clinical and MRI findings in two Dutch families.Familial porencephaly is a rare disorder causing motor impairment, hemiplegia, mental retardation and epilepsy in variable degrees. Two families with porencephaly and apparently dominant inheritance are reported. brain MRI findings are reviewed and described in seven affected individuals. Most patients also show white matter abnormalities in the cerebral hemisphere, also contralateral to the cystic lesion. In the first family an obligate carrier was identified who did not have a cystic lesion but clear abnormalities of the white matter. Although a predisposition for thrombophilia has previously been reported, we did not observe any genetic, environmental or epigenetic predisposition for the porencephaly. The lesions are most compatible with a deep venous thrombosis/ischemic event occurring in a late stage of pregnancy, not necessarily aggravated by perinatal asphyxia.- - - - - - - - - - ranking = 2keywords = white (Clic here for more details about this article) |
10/14. Megalencephalic leukoencephalopathy with subcortical cysts.Megalencephalic leukoencephalopathy with subcortical cysts is a rare disease first described in 1995. It is characterized by macrocephaly and early onset white matter degeneration. We report two siblings who were diagnosed to have this disease. This disease must be included in differential diagnosis of macrocephaly with early onset leukoencephalopathy.- - - - - - - - - - ranking = 1keywords = white (Clic here for more details about this article) |
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