1/26. optic nerve enlargement in Krabbe's disease.We report imaging and gross pathologic findings from two cases of Krabbe disease in which there was marked enlargement of the intracranial optic nerves. Numerous globoid cells were observed in the optic nerves at autopsy in one case. Krabbe disease should be included in the differential diagnosis of children with enlargement of the optic nerves.- - - - - - - - - - ranking = 1keywords = nerve (Clic here for more details about this article) |
2/26. Clinical and cerebral FDG PET scan in a patient with Krabbe's disease.A 2-year, 6-month-old Saudi male with infantile Krabbe's disease was studied with fluorine-18-labeled-2-fluoro-2-deoxyglucose positron emission tomography (FDG PET) scan. The patient presented with a gradual loss of developmental milestones, irritability, and crying. At the advanced stage of the disease, he developed tonic-clonic seizures and became a microcephalic, extremely irritable, blind, spastic quadriplegic child, with no deep tendon reflexes. Laboratory studies revealed normal blood chemistry, muscle enzymes, very long chain fatty acids, and acylcarnitines. No abnormal urinary organic acids were detected. The cerebrospinal fluid protein concentration was increased. magnetic resonance imaging of the brain revealed mild brain atrophy and white matter disease mainly in the centrum semiovale. electroretinography was normal; however, electroencephalography and visual-evoked potentials were abnormal. Peripheral nerve conduction studies documented a demyelinating neuropathic process. The FDG PET study of the brain demonstrated a marked decrease in the metabolism of the left cerebral cortex and no uptake in the caudate heads. Normal glucose uptake was observed in the thalami, lentiform nuclei, and cerebellum. The patient did not present for subsequent clinic visits and is presumed dead.- - - - - - - - - - ranking = 0.14285714285714keywords = nerve (Clic here for more details about this article) |
3/26. Intracranial and spinal MR imaging findings associated with Krabbe's disease: case report.Krabbe's disease is an autosomal recessive leukodystrophy with well-documented intracranial findings on both CT scans and MR images. We herein present what is thought to be the second case of Krabbe's disease with spinal involvement shown on MR images as abnormal contrast enhancement of the lumbosacral nerve roots. The typical intracranial findings of T2 hyperintensity without contrast enhancement were present within the periventricular white matter, but there was no area of abnormal signal intensity or enhancement within the substance of the spinal cord. We briefly review the pathophysiology, clinical presentation, and imaging findings of Krabbe's disease. Spinal abnormalities may precede the onset of brain abnormalities, and MR imaging may be a useful diagnostic tool in cases of Krabbe's disease and other leukodystrophies.- - - - - - - - - - ranking = 0.14285714285714keywords = nerve (Clic here for more details about this article) |
4/26. Peripheral neuropathy with hypomyelinating features in adult-onset Krabbe's disease.We describe three brothers suffering from Krabbe's disease with onset in the fifth decade. The proband showed a complete deficiency of leukocyte enzyme galactocerebrosidase and was found to be heterozygous for two previously described mutations: G > A809 and 502T/del consisting of a 30 kb deletion. In all three brothers the neurological examination showed features of asymmetrical peripheral neuropathy associated with pyramidal signs and the electrophysiological examination showed a generalized slowing of nerve conduction velocities. Two patients died at 59 and 61 years of age due to respiratory failure. Both the proband and his brother underwent a sural nerve biopsy. In the former the most striking finding was the presence of uniformly thin myelin sheaths without evidence of demyelination; a complete absence of fibers was found in the latter. Our findings confirm that peripheral neuropathy may be the presenting feature of late-onset Krabbe's disease. Hypomyelination rather than demyelination may represent the distinguishing pathological finding of this condition.- - - - - - - - - - ranking = 0.28571428571429keywords = nerve (Clic here for more details about this article) |
5/26. Serial magnetic resonance imaging studies in a case of late onset globoid cell leukodystrophy.The late onset type of globoid cell leukodystrophy (GLD) is a rare disorder and only three magnetic resonance imaging (MR) studies have been reported for this disease. We report a sporadic case of late onset GLD. The illness started at the age of 3 years and 8 months with spastic gait. He became bedridden at the age of 4 years and 7 months. The diagnosis was made by deficient activity of galactosylceramidase in lymphocytes, and the biochemical and morphological examinations of the biopsied sural nerve were also conducted. Computed tomography (CT) and MR study revealed that the degenerative change of the white matter was initially recognized in the occipital and parietal lobes and then extended forward. literature of the CT or MR findings of GLD is also reviewed.- - - - - - - - - - ranking = 0.14285714285714keywords = nerve (Clic here for more details about this article) |
6/26. Late infantile onset krabbe disease in siblings with cortical degeneration and absence of cerebral globoid cells.Krabbe disease, a disorder caused by the deficiency of lysosomal galactosylceramidase, is typically associated with cerebral white matter degeneration, cortical sparing, accumulation of macrophages ("globoid cells"), and ultrastructural needle-shaped inclusions. Two sisters presented with progressive neurological deterioration beginning before the age of 2.5 years. The first, who died at the age of 9 years, exhibited profound destruction of cerebral white matter with sparing of subcortical fibers but no globoid cells. The brain of the second, who died at the age of 15 years and who had a proven galactosylceramidase deficiency, exhibited white matter destruction, previously undescribed circumscribed spongiform cortical degeneration (postcentral, inferior temporal, cingulate), and cerebellar atrophy, but no globoid cells. The peripheral nerve biopsies from both girls exhibited typical needle-shaped inclusions in schwann cells. These observations confirm the rare reports that Krabbe disease is not always associated with globoid cells in the brain. psychosine, which accumulates in the brain, might be toxic to cortical neurons following prolonged survival. The reason for the regional susceptibility in the cerebral cortex is unknown.- - - - - - - - - - ranking = 0.14285714285714keywords = nerve (Clic here for more details about this article) |
7/26. Krabbe disease: unusual MRI findings.We present the MRI findings in a case of infantile-onset Krabbe disease. Enlargement of the intracranial optic nerves and cervical cord were detected in addition to more typical changes in the cerebral white matter and thalami. We also review the proton MR spectroscopic findings in Krabbe disease.- - - - - - - - - - ranking = 0.14285714285714keywords = nerve (Clic here for more details about this article) |
8/26. Krabbe's disease. A light and electron microscopic study.Ultrastructural studies of brain and sural nerve biopsy specimens from a patient with Krabbe's disease disclosed periodically constricted or twisted tubules in addition to the more abundant and characteristic crystalloid and prismatic structures within macrophages. It is suggested that the twisted tubules may result from the intracellular accumulation of lactosyl ceramide. Familiarity with these unusual tubular structures is of practical as well as theoretical importance since they may be encountered in brain and peripheral nerve biopsy specimens obtained for the morphological diagnosis of Krabbe's disease.- - - - - - - - - - ranking = 0.28571428571429keywords = nerve (Clic here for more details about this article) |
9/26. Late onset globoid leukodystrophy: unusual clinical and CSF findings.During a febrile upper respiratory tract illness this 4 year old boy developed left hemiparesis, which progressed to loss of walking and even of sitting finally to tetraplegia. The cerebrospinal fluid protein pattern showed blood-brain barrier damage with additional intrathecal IgG synthesis. The symptoms responded to steroid therapy but resumed and worsened on withdrawal. Only late, when visual evoked potentials and nerve conduction velocity proved to be impaired, was Krabbe disease diagnosed on the assay of cultured fibroblasts for galactocerebroside-beta-galactosidase. We discuss the significance of possible endogenous production of IgG in the CNS.- - - - - - - - - - ranking = 0.14285714285714keywords = nerve (Clic here for more details about this article) |
10/26. Late-onset globoid cell leukodystrophy: unusual ultrastructural pathology and subtotal beta-galactocerebrosidase deficiency.An 11-year-old girl was found to have severely reduced beta-galactocerebrosidase activity as evidence of late-onset globoid cell leukodystrophy, while her mother had almost normal enzyme activity in circulating white blood cells. Clinically, the patient showed a remitting course marked by seizures, ataxia, white-matter disease on computed tomographic scan, and reduced conduction velocities of peripheral nerves. Symptoms improved somewhat around the age of 10 years. Two sural nerve biopsies, performed 6 years apart, disclosed a demyelinating neuropathy. By electron microscopy, membrane-bound vacuolar lysosomes in Schwann cells of myelinated axons, unlike the typical needlelike inclusions seen in classic infantile globoid cell leukodystrophy, were present in both specimens. Thus, clinical, morphologic, and biochemical data in this patient--and her mother--emphasize, compared with past reports on late-onset globoid cell leukodystrophy, considerable variation in the nosologic spectrum of late-onset globoid cell leukodystrophy and conspicuous differences from classic infantile globoid cell leukodystrophy.- - - - - - - - - - ranking = 0.28571428571429keywords = nerve (Clic here for more details about this article) |
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