1/109. 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.- - - - - - - - - - ranking = 1keywords = muscle (Clic here for more details about this article) |
2/109. 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.- - - - - - - - - - ranking = 1keywords = muscle (Clic here for more details about this article) |
3/109. Conduction block and continuous motor unit activity in chronic acquired demyelinating polyneuropathy.The term continuous motor unit activity (CMUA) may be used to refer to the involuntary, sustained activity of motor units caused by hyperactivity of peripheral motor nerves. CMUA has been reported in association with acquired neuropathies such as chronic inflammatory demyelinating polyneuropathy. The precise mechanism responsible for the excess muscle activity is not defined, but the activity is believed to originate in the peripheral nerves, perhaps at sites of focal demyelination. We describe a case of an acquired, demyelinating neuropathy associated with distal motor conduction block in which CMUA was observed in muscles innervated by blocked axons. Despite the prolonged disease duration of nearly 40 years, marked clinical and electrophysiological improvement as well as resolution of the CMUA were observed following immunosuppressive therapy. A relationship between the chronic motor conduction block and the excess muscle activity is postulated.- - - - - - - - - - ranking = 3keywords = muscle (Clic here for more details about this article) |
4/109. Congenital hypomyelination due to myelin protein zero Q215X mutation.Congenital hypomyelination (CH) is a hereditary demyelinating peripheral neuropathy characterized by early infancy onset, distal muscle weakness, hypotonia, areflexia, and severe slowing of nerve conduction velocities. In the present report, the clinical, morphological, and immunohistochemical features of a CH case and the identification of a mutation in the gene (MPZ) for protein zero (P0) associated with this phenotype are described. This "de novo" mutation in a patient presenting with clinical features quite distinct from those of the more frequent Charcot-Marie-tooth type 1B disease (CMT1B) or Dejerine-Sottas syndrome (DSS) confirms that CH is allelic with other disorders characterized by a less severe phenotype and a different clinical and neuropathological profile.- - - - - - - - - - ranking = 1keywords = muscle (Clic here for more details about this article) |
5/109. The guillain-barre syndrome following dengue fever.A 44 year old female presented with fever, muscle aches, rash and a low platelet count. IgM antibody to dengue virus was positive. Two weeks later she developed a flaccid areflexic quadriparesis. Nerve conduction studies showed a predominantly demyelitinating sensory motor polyneuropathy consistent with guillain-barre syndrome. Despite the relatively common occurrence of dengue fever, an associated polyradiculoneuropathy is distinctly uncommon.- - - - - - - - - - ranking = 5.4676815908614keywords = paresis, muscle (Clic here for more details about this article) |
6/109. Asymmetrical polyneuropathy with a stepwise progressive course and well-demarcated areas of demyelination.A female patient was 12 years old when she presented with hemiatrophy and muscle weakness on the right side of her body. Then a stepwise worsening occurred, and at 19 years of age sensory symptoms were also noticed, as well as a mild involvement of the left part of her body. The cerebrospinal fluid (CSF) protein level was elevated without cells. The main electrophysiological abnormality was a marked temporal dispersion of the compound muscle action potentials (CMAPs). Motor nerve conduction velocities were moderately reduced. A superficial peroneal nerve biopsy revealed well-demarcated areas of demyelination with prominent Schwann cell hyperplasia. Neither deletion nor duplication of the PMP22 gene nor mutation of the P0 or connexin 32 genes was found by molecular genetic investigations. immunotherapy was administered, and over the next 6 years the symptomatology fluctuated. This unusual disorder seems to be a variant of chronic acquired demyelinating polyneuropathy and may be immunologically mediated.- - - - - - - - - - ranking = 2keywords = muscle (Clic here for more details about this article) |
7/109. syringomyelia and complex regional pain syndrome as complications of multiple sclerosis.OBJECTIVE: To describe a patient from Southeast Asia with the optic-spinal phenotype of multiple sclerosis who developed syringomyelia and resultant complex regional pain syndrome (formerly named reflex sympathetic dystrophy). DESIGN: Case report. SETTING: Department of neurology at a tertiary care hospital in the Republic of singapore. PATIENT: A 53-year-old Chinese woman with a history of optic neuritis developed an episode of left hemiparesis leading to a diagnosis of multiple sclerosis. Serial neuroimaging studies revealed an active demyelinating plaque in the cervical area that later progressed into a syrinx. Over a period of 1 year she also developed signs of sympathetic dysfunction including horner syndrome of the left eye and complex regional pain syndrome in the left hand. CONCLUSIONS: A case of the optic-spinal phenotype of multiple sclerosis that is commonly observed in Southeast Asia is described. This characteristically tissue-destructive form of multiple sclerosis resulted in syringomyelia complicated by a complex regional pain syndrome. Possible pathogenic mechanisms for these associations are discussed.- - - - - - - - - - ranking = 23.826320439226keywords = hemiparesis, paresis (Clic here for more details about this article) |
8/109. Immunoadsorption in multifocal motor neuropathy.To our knowledge, this is the first reported application of immunoadsorption in a patient with multifocal motor neuropathy (MMN). The diagnosis relied on the typical clinical features, markedly increased IgM-GM1 antibodies, multiple motor conduction blocks, and motor nerve biopsy. Immunoadsorption was carried out in seven cycles of two sessions each within 97 days. From the first therapy, muscle force as well as nerve conduction velocity and conduction blocks deteriorated continuously. As a consequence, immunoadsorption cannot be recommended as a treatment for MMN.- - - - - - - - - - ranking = 1keywords = muscle (Clic here for more details about this article) |
9/109. magnetic resonance imaging in five patients with a tumefactive demyelinating lesion in the central nervous system.Five patients with a tumefactive lesion were clinically followed from 1992 to 1993. Four patients were female; age ranged from 32 to 57 years, the duration of symptoms varied from 3 days to 3 years. Neurological examination disclosed dementia in two patients, aphasia in three, hemiparesis in four, hemihypoaesthesia in three, optical neuritis in two, tetraparesis with sensitive level and neurogenic bladder in one. MRI disclosed lesions with a hypersignal on images assessed at T2 and hyposignal at T1, and gadolinium heterogeneous enhancement; these lesions were located in the: a) temporooccipital region bilaterally and brain stem, b) frontoparietal white matter, c) basal ganglia, bilateral white matter and brain stem, d) left parietal region, e) cervical spinal cord, with enlargement of this region. Cerebral biopsy was performed in three patients; acute and subacute demyelinating disease was diagnosed by histological examination. Two patients had an evolutive diagnosis; exclusion of other pathologies and clinical and radiological improvement after corticotherapy, pointed to an inflammatory disease.- - - - - - - - - - ranking = 28.294002030088keywords = hemiparesis, paresis (Clic here for more details about this article) |
10/109. poland-Moebius syndrome: a case report.BACKGROUND: The primary site of pathology in Moebius syndrome is still unknown, although several studies have variably localized the lesion in the extraocular muscles, cranial nerves, or central nervous system. CASE: A 24-year-old man with poland-Moebius syndrome and acquired progressive bilateral paralytic lower eyelid ectropion is described. OBSERVATIONS: In this patient, magnetic resonance imaging studies revealed a barely detectable pontine hypoplasia and normal recti muscles. Nerve conduction studies of the facial nerves showed a severe demyelinating or dysmyelinating type of neuropathy. Bilateral lower eyelid ectropium of the patient was successfully corrected by canthal tightening procedures. CONCLUSION: Contrary to many reported cases, this patient serves as a rare example of a progressive type of poland-Moebius syndrome presumably resulting from a combination of a brainstem abnormality and a peripheral neural degenerative process.- - - - - - - - - - ranking = 2keywords = muscle (Clic here for more details about this article) |
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