1/947. Steroid-responsive multifocal demyelinating neuropathy with central involvement. We describe 2 patients with associated central and peripheral demyelination. Electrophysiological studies revealed a demyelinating polyneuropathy with sensory and motor conduction blocks. Visual evoked potentials were abnormal. Motor evoked potentials showed abnormal central conduction time in 1 patient. magnetic resonance imaging revealed regions of abnormal high signal in the spinal cord and brain; sural nerve biopsy disclosed a demyelinating neuropathy. Both patients showed clinical and electrophysiological improvement after steroid therapy. ( info) |
2/947. Extrapontine myelinolysis in a nine-year-old child. Extrapontine myelinolysis in the pediatric age group is very rare. We report a nine-year-old girl with the classical clinical syndrome of pontine and extrapontine myelinolysis following liver trauma due to a traffic accident. She was referred to our hospital for further investigation of convulsions due to severe postoperative hyponatremia. She had no hypoxic event or other identifiable cause for the neurological symptoms. Neurological deterioration began about two days after correction of hyponatremia and followed a period of temporary improvement in hyponatremic encephalopathy. diagnosis of extrapontine myelinolysis was confirmed with the identification of typical features on magnetic resonance imaging. The rapid correction of hyponatremia seemed the most likely cause since other biochemical tests including liver function tests were all within normal ranges. The long term clinical outcome was good. It is important to carefully monitor the rate of correction in electrolyte disturbances, and to consider the individual variation in response to therapy. ( info) |
3/947. Neuro-ophthalmic, radiographic, and pathologic manifestations of adult-onset alexander disease. A 61-year-old woman had a 3-year history of imbalance. eye movement studies revealed square-wave jerks, gaze paretic nystagmus, rebound nystagmus, impaired smooth pursuit, impaired optokinetic nystagmus, and abnormal fixation suppression of vestibular nystagmus. A brain magnetic resonance imaging study showed extensive areas of increased signal from the middle cerebellar peduncles and dentate nuclei, which enhanced with gadolinium. Histopathological analysis of a needle biopsy specimen of the left cerebellar peduncle revealed diffuse gliosis in the presence of symmetrically distributed areas of demyelination. There were associated Rosenthal fibers. Clinicopathologic correlation supported a diagnosis of alexander disease. An adult patient with a history of progressive imbalance, ocular motility abnormalities consistent with cerebellar and/or brainstem dysfunction, and diffuse, symmetric hyperintense magnetic resonance imaging signals in brainstem and cerebellar white matter should suggest a diagnosis of adult-onset alexander disease. ( info) |
4/947. Clinical, pathologic, and neurochemical studies of an unusual case of neuronal storage disease with lamellar cytoplasmic inclusions: a new genetic disorder? A child of first-cousin Puerto Rican parents had global developmental delay, failure to thrive, and hypotonia since early infancy. At 1 1/2 years of age, she developed clinical and electrophysiologic evidence of progressive motor and sensory neuropathy. At 2 1/2 years, she developed visual impairment and optic atrophy followed by gradual involvement of the 7th, 9th, 10th, and 12th cranial nerves. Uncontrollable myoclonic seizures began at 4 years and she died at 6 years of age. Motor nerve conduction velocities were initially normal and later became markedly slowed. Sensory distal latency responses were absent. Lysosomal enzyme activities in leukocytes and fibroblasts were normal. sural nerve and two muscle biopsies showed only nondiagnostic abnormalities. Electron microscopy of lymphocytes, skin, and fibroblasts showed cytoplasmic inclusions. light microscopy of frontal cortex biopsy showed neuronal storage material staining positively with Luxol fast blue, and electron microscopy showed cytoplasmic membranous bodies in neurons, suggesting an accumulation of a ganglioside. At autopsy, all organs were small but otherwise normal and without abnormal storage cells in the liver, spleen, or bone marrow. Anterior spinal nerve roots showed loss of large myelinated axons. The brain was small and atrophic; cortical neurons showed widespread accumulation of storage material, most marked in the pyramidal cell layer of the hippocampus. Subcortical white matter was gliotic with loss of axons and myelin sheaths. In cortical gray matter there was a 35% elevation of total gangliosides, with a 16-fold increase in GM3, a three- to four-fold increase in GM2 gangliosides, and a 15-fold elevation of lactosyl ceramide. GM3 sialidase activity was normal in gray matter at 3.1 nmols/mg protein per hour and lactosyl ceraminidase I and II activities were 70% to 80% of normal. In white matter, total myelin was reduced by 50% but its composition was normal. Phospholipid distribution and sphingomyelin content were normal in gray matter, white matter, and in the liver. These biochemical findings were interpreted as nonspecific abnormalities. The nature of the neuronal storage substance remains to be determined. ( info) |
5/947. Osmotic demyelination syndrome with two-phase movement disorders: case report. Osmotic demyelination syndrome (ODS) is characterized by regions of demyelination throughout the brain, which are most prominent in the pons. This demyelinating disease is associated with electrolyte disturbances and typically occurs in patients who are alcoholic or malnourished. movement disorders are not frequently recognized in patients with ODS. This report describes a 22-year-old woman with ODS after correction of profound hyponatremia. The main neurologic symptom was two-phase movement disorder. First, she had acute onset dystonia, then the movement disorder transformed to generalized rigidity and tremors in the delayed second phase. magnetic resonance imaging in the first phase revealed demyelinating lesions in the central pons, bilateral thalami and basal ganglia. In the second phase, the previous myelinolysis had been partially resolved. The clinical course of the two-phase movement disorder did not correlate with the resolving feature of neuroradiologic findings. During the second-phase movement disorder, the patient had a good response to propranolol and trihexyphenidyl. ( info) |
6/947. Chronic steadily progressive central and peripheral predominantly motor demyelination, involving the cranial nerves, responsive to immunoglobulins. The association of central and peripheral demyelination was reported previously. Most of the cases refer to central chronic relapsing demyelination with clinical criteria for multiple sclerosis associated with later signs of peripheral nerve involvement. Other authors, described central lesions in patients with chronic inflammatory demyelinating polyneuropathy and in guillain-barre syndrome, as a seldom occurrence. We report a patient in which a chronic steadily progressive central and peripheral predominantly motor nervous system demyelination, involving the cranial nerves, was identified. The patient improved after intravenous immunoglobulin suggesting an immune-mediated mechanism. To our knowledge this presentation was not described before. ( info) |
7/947. Cerebral bleeding, infarcts, and presumed extrapontine myelinolysis in hypernatraemic dehydration. The neuroimaging findings in an infant with hypernatremic dehydration are presented. brain parenchymal haemorrhage and extensive multiple infarcts were present in the acute stage. Follow-up CT showed bilateral, symmetrical changes presumed to indicate extrapontine myelinolysis in the thalamus and globus pallidus. MRI confirmed sparing of the pons. Only three previous cases of neuroimaging abnormalities due to hypernatraemia have been described in the radiological literature. ( info) |
8/947. optic atrophy and chronic acquired polyneuropathy. Chronic inflammatory demyelinating polyneuropathy (CIDP) is a chronic, multifocal disorder usually defined as limited to the peripheral nervous system. Multifocal motor neuropathy, an acquired demyelinating neuropathy with conduction block affecting motor neurons only, may be a pathogenically distinct syndrome or a predominantly motor variant of chronic inflammatory demyelinating polyneuropathy. central nervous system demyelination including optic neuropathy has been reported uncommonly previously in these entities. We report two cases and review the literature on the possible association of optic neuropathy and chronic acquired polyneuropathy. ( info) |
9/947. Abetalipoproteinaemia. A case report with pathological studies. The clinical and pathological features of a case of abetalipoproteinaemia in a 38-year-old patient are described in detail. A feature not previously recorded was a marked reduction in the velocity of ocular horizontal saccadic movements. Pathological studies revealed an active chronic demyelinating process. The patient showed no response to large doses of vitamin e. The rationale for this therapy, and the possible reasons for its failure are discussed. ( info) |
10/947. Chronic inflammatory demyelinating polyradiculoneuropathy: superiority of protein A immunoadsorption over plasma exchange treatment. We present a patient with chronic inflammatory demyelinating polyradiculoneuropathy (CIDP) who was treated regularly with plasma exchanges (PE) because response to other therapies including i.v. immunoglobulins was not adequate. To reduce nonspecific protein losses due to repeated PE and increase IgG-removal, immunoadsorption (i.a.)-therapy using sepharose-bound protein A was initiated. Retrospective analysis of clinical data including muscle strength and walking distance shows that IA led to more rapid and greater functional improvement than PE in this patient with no relevant side effects. After 3 years of therapy lymphoma was diagnosed and treated. The patient had no relapses of CIDP for 17 months, when his functional status deteriorated again necessitating further IA-therapy. It is concluded that IgG removal by IA in CIDP is more effective and has fewer complications than PE. Due to the chronic course of CIDP requiring repeated interventions IA is also not more expensive than PE. ( info) |