1/94. Long-chain L-3-hydroxyacyl-coenzyme a dehydrogenase deficiency neuropathy: response to cod liver oil.Docosahexaenoic acid (DHA) deficiency has recently been documented in several children with long-chain L-3-hydroxyacyl-coenzyme a dehydrogenase deficiency (LCHADD). We studied a 13-year-old boy with LCHADD who had limb girdle myopathy, recurrent myoglobinuria, and progressive sensorimotor axonopathy with demyelination. At 11 years of age, he was started on cod liver oil extract, high in DHA content. Over 12 months, he demonstrated a marked clinical recovery. Nerve conduction studies (NCS) demonstrated reappearance of previously absent posterior tibial and peroneal nerve responses and the amplitudes on motor ulnar and median NCS markedly increased from 7- to 14-fold, respectively.- - - - - - - - - - ranking = 1keywords = myopathy (Clic here for more details about this article) |
2/94. Subluxation of a lumbar vertebra in a patient with marfan syndrome. Case report.marfan syndrome is a hereditary disorder of the connective tissue that, in its most classic form, includes cardiovascular, ocular, and skeletal features. The neurological problems associated with the disease are mainly caused by intracranial vascular abnormalities and spinal meningeal defects, but other neurological manifestations are rarely present. scoliosis, a skeletal manifestation of the syndrome, occurs frequently, but its onset, natural history, and radiological characteristics differ from those of the idiopathic form. scoliosis in a patient with marfan syndrome seldom accompanies other spinal deformities. In this article the authors describe the case of a patient with marfan syndrome and scoliosis in whom lumbar subluxation occurred. This rare deformity, diagnosed on three-dimensional computerized tomography scanning, has not been reported previously in association with marfan syndrome. Its development can be explained in terms of the theory of progressive rotatory dislocation. The morphological characteristics, clinical features, and surgical treatment of the deformity are presented.- - - - - - - - - - ranking = 0.37527154804286keywords = ocular (Clic here for more details about this article) |
3/94. Familial dysautonomia: a diagnostic dilemma. chronic lung disease with signs of an autoimmune disease.We present an 11-year-old girl with sensory and autonomic neurological dysfunction, and respiratory insufficiency caused by recurrent aspiration. The diagnosis of familial dysautonomia (FD) was confirmed by a missing axonal flare to histamine, miosis in response to conjunctival methacholine and homozygous polymorphic linked markers DS58(18) and DS159(7) on chromosome 9. Ashkenazi Jewish descent could not be ascertained by history. A variety of positive tests for autoantibodies were initially interpreted as evidence for systemic lupus erythematosus vs. overlap syndrome with pulmonary, cerebral, skin, and ocular involvement. The diagnosis of FD was delayed because of the rarity of this disorder in germany (second case reported). We discuss possible explanations for the misleading immunological findings, including interference by antibodies binding to milk proteins used as blocking reagents in enzyme-linked immunoassays and circulating immune-complexes due to chronic aspiration pneumonitis.- - - - - - - - - - ranking = 0.37527154804286keywords = ocular (Clic here for more details about this article) |
4/94. Mitochondrial cytopathy presenting with focal segmental glomerulosclerosis, hypoparathyroidism, sensorineural deafness, and progressive neurological disease.A 6 year old boy who presented with steroid unresponsive nephrotic syndrome is reported. He was found to have focal segmental glomerulosclerosis and associated hypoparathyroidism and sensorineural deafness. The child progressed to end stage renal failure and was successfully managed by dialysis and cadaveric renal transplantation. He later developed progressive neurological deterioration and mitochondrial myopathy and neuropathy was diagnosed.- - - - - - - - - - ranking = 1keywords = myopathy (Clic here for more details about this article) |
5/94. Leukodystrophy and CSF purine abnormalities associated with isolated 3-methylcrotonyl-CoA carboxylase deficiency.We report the first case of isolated biotin resistant 3-methylcrotonyl-CoA carboxylase (MCC) deficiency in argentina. The diagnosis was established at 14 months of age by urinary organic-acid analysis and confirmed by enzyme assay in fibroblasts. The patient suffered from severe psychomotor retardation, hypotonia, areflexia, and failure to thrive, and died unexpectedly at 3 years 4 months of life. brain MRI at 14 months showed signals of the white matter on cerebral T2-weighted, which were indicative of confluent and multiple foci of leukodystrophy, a pattern not previously described in this entity. In addition, high levels of oxypurines were detected in cerebrospinal fluid. This might be related to energetic consequences of the enzyme deficiency in the brain. This case extends the phenotype of isolated MCC deficiency in infancy and suggests this entity should be considered to be one of the possible causes of "metabolic leukodystrophies."- - - - - - - - - - ranking = 9.031827187458keywords = dystrophy (Clic here for more details about this article) |
6/94. Neuro-ophthalmic sarcoidosis.sarcoidosis is a multisystem disorder in which ocular involvement occurs in about one-quarter and neurosarcoidosis in 7 per cent of patients. When the retina is involved, the reported incidence of central nervous system sarcoidosis is 37 per cent. The patient described had a transient papular eruption of the legs, bilateral hilar lymphadenopathy, polyarthralgia with knee effusions, and bilateral facial and peripheral neuropathy. Ocular involvement was characterized by anterior uveitis (in the initial stages), vitreous flare, bilateral disc oedema, macular oedema, streak haemorrhages, peripheral periphlebitis, nerve fibre bundle defects, and candle-wax spots. fluorescein angiography showed no fluorescence of the candle-wax spots nor of the adjacent vessels. However, there was hyperfluorescence of two retinal lesions. This patient had unilateral internal ophthalmoplegia, only three cases of which have been reported in the literature. Her health was restored by heavy, prolonged corticosteroid therapy. Her family history revealed that an uncle died of sarcoidosis complicated by cryptococcal meningitis. The literature on retinopathy in sarcoidosis is reviewed and the lesions noted in the posterior segment are listed.- - - - - - - - - - ranking = 4.7913105750658keywords = ophthalmoplegia, ocular (Clic here for more details about this article) |
7/94. Hypermyelinating neuropathy, mental retardation and epilepsy in a case of merosin deficiency.Children with a deficiency of laminin alpha 2 chain generally show an involvement of skeletal muscles, cerebral white matter and peripheral nerves. Among these patients, however, there is increasing evidence of molecular and phenotype heterogeneity. We report a 19-year-old girl with distal weakness, mental retardation and refractory epilepsy in whom elevated serum CK suggested a myopathy. Electrophysiological and neuroimaging examinations as well as studies of nerve and muscle biopsies were performed. Nerve conduction velocities were definitely reduced and brain MRI demonstrated a diffuse white matter involvement. The muscle biopsy showed both myopathic and neurogenic features. By immunohistochemistry laminin alpha 2 chain was mildly reduced in muscle and virtually absent in peripheral nerve. Teasing of sural nerve fibers showed a 'globular' hypermyelination characteristically located at the paranodal regions. A mild loss of myelinated fibers without any demyelination-remyelination changes was found. Haplotype analysis suggested linkage to the LAMA2 locus. Our case is peculiar as the putative mutation probably affects the expression of laminin alpha 2 chain is affected in a tissue specific manner: the protein is virtually absent in peripheral nerves but only mildly reduced in skeletal muscle. As to the disorder of nerve myelination, an absence or abnormal functioning of laminin alpha 2 chain can alter the feed-back control during myelinogenesis, leading to an over-ensheathment of axon. Alternatively, a compensatory up-regulation of other laminins can induce the hyperproduction of myelin sheaths. This case provides new evidence of the phenotypical heterogeneity of the LAMA2 gene and sheds light in understanding the role of laminin alpha 2 chain in myelination of peripheral nerve.- - - - - - - - - - ranking = 1keywords = myopathy (Clic here for more details about this article) |
8/94. Phenotypic variability of aprataxin gene mutations.The clinical and genetic features of three non-Portuguese and non-Japanese patients with aprataxin gene mutations are reported. Patient 1 came from italy and presented with typical ataxia with ocular motor apraxia (OMA). She was homozygous for the W279X nonsense mutation, which is associated with the Portuguese founding haplotype. patients 2 and 3 were French siblings and did not present with either OMA or hypoalbuminemia. They were compound heterozygous for the nonsense W279X mutation and a missense K197Q mutation.- - - - - - - - - - ranking = 0.37527154804286keywords = ocular (Clic here for more details about this article) |
9/94. Human T-cell lymphotropic virus type 1-associated retinal vasculitis in children.PURPOSE: To describe predominant retinal vasculitis in children carrying human T-cell lymphotropic virus type 1 (HTLV-1). methods: The authors examined clinical records of patients with HTLV-1-associated uveitis between 1987 and 2001 in Kagoshima University Hospital and reviewed cases of extensive, smoldering retinal vasculitis. RESULTS: Three previously healthy teenagers noted mild visual symptoms and presented with extensive sheathing of retinal vessels, complicated by mild anterior segment inflammation. The retinal vascular disease responded poorly to systemic corticosteroids, had a smoldering course with persistent sheathing of retinal vessels, and eventually resulted in diffuse chorioretinal degeneration. Results of laboratory studies were unremarkable except for the presence of serum antibodies to HTLV-1. One patient developed HTLV-1-associated myelopathy 11 years after the onset of ocular disease. CONCLUSIONS: The retinal vasculitis differed from the retinal vascular changes commonly seen in HTLV-1-associated uveitis. The authors suggest a clinical disease HTLV-1-associated retinal vasculitis that affects young HTLV-1 carriers, characterized by smoldering retinal vasculitis with ultimate retinal degeneration.- - - - - - - - - - ranking = 0.37527154804286keywords = ocular (Clic here for more details about this article) |
10/94. creatine phosphate kinase elevations signaling muscle damage following exposures to anticholinesterases: 2 sentinel patients.In this study, the authors describe 2 patients who experienced confirmed exposures to anticholinesterases that commenced in the 1970s. Subsequently, elevations in creatine phosphate kinase (CPK) were initially detected more than a decade following the first acute exposure. Beginning in the early 1980s, the patients suffered from progressive generalized muscle weakness, chronic fatigue, myopathy, neuropathy, and severe neurobehavioral impairments. Previous occupational exposures included pyridostigmine, as well as isopropyl methylphosphonofluoridate (percutaneous lethal dose [LD50] < 28 mg/kg body weight), and 1 patient had exposure to agricultural organophosphates. The authors hypothesize that the workers' CPK elevations, first detected more than a decade following acute exposures to anticholinesterases, were sentinel events for impending muscle damage and necrosis. Many gulf war veterans with gulf war disease who reported exposures to anticholinesterases 1 decade earlier currently suffer from vague neuromuscular and cognitive impairments. Therefore, medical programs for gulf war veterans with gulf war Syndrome should include surveillance for elevated CPK, abnormalities of neuromuscular conduction, and genetic susceptibility, and they should promote therapeutic trials for palliation.- - - - - - - - - - ranking = 1keywords = myopathy (Clic here for more details about this article) |
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