1/24. vitamin e deficiency due to chylomicron retention disease in Marinesco-Sjogren syndrome.We report on 2 brothers (aged 19 and 12 years) with Marinesco-Sjogren syndrome who also had very low serum vitamin E concentrations with an absence of postprandial chylomicrons. The molecular study ruled out ataxia with isolated vitamin e deficiency, abetalipoproteinemia, and hypobetalipoproteinemia. The electron microscopy of the intestinal mucosa was consistent with a chylomicron retention disease. We speculate that both chylomicron retention disease and Marinesco-Sjogren syndrome are related to defects in a gene crucial for the assembly or secretion of the chylomicron particles, leading to very low serum levels of vitamin E.- - - - - - - - - - ranking = 1keywords = vitamin, deficiency (Clic here for more details about this article) |
2/24. Ataxia with isolated vitamin e deficiency: a clinical, biochemical and genetic diagnosis.A case of ataxia with isolated vitamin e deficiency, in conjunction with supportive genetic studies, is reported. This is a neurodegenerative condition that involves a mutation in the tocopherol (alpha) transfer protein gene (TTPA). Measurement of serum vitamin E concentration should be included as part of the investigations in children with progressive ataxia, even in the absence of fat malabsorption. Early treatment with vitamin E may protect such patients against further neurological damage.- - - - - - - - - - ranking = 1.5958065148258keywords = vitamin, deficiency (Clic here for more details about this article) |
3/24. congenital disorders of glycosylation (CDG) may be underdiagnosed when mimicking mitochondrial disease.congenital disorders of glycosylation (CDG) and mitochondrial diseases are multisystem disorders with clinical characteristics that may overlap. We present four patients with CDG whose phenotypes suggested the diagnosis of a mitochondrial disease. patients 1 and 2 are siblings with hemiplegic headache, stroke-like episodes, lactic acidaemia and history of maternal migraine; their initial clinical diagnosis was melas syndrome (mitochondrial encephalopathy, lactic acidosis and stroke-like episodes). Patient 3 suffers from ataxia, neuropathy, ophtalmoplegia and retinitis pigmentosa suggestive of NARP (neuropathy, ataxia, and retinitis pigmentosa) syndrome. Patient 4 presented with neurological regression mimicking leigh disease, with ptosis, myoclonus, ataxia and brainstem and cerebellar atrophy. Screening for mitochondrial disease including enzyme and mtDNA investigations on muscle biopsy were performed on patients 1, 2 and 4 with normal results. However, evidence for a glycosylation disorder was substantiated by an increased carbohydrate deficient transferrin (CDT). The isoelectric focussing pattern of serum sialotransferrin was typical of CDG type I in patients 1, 2 and 3 and was shifted towards the less sialylated bands in case 4. A deficiency of phosphomanomutase (PMM) confirmed the diagnosis of CDG-Ia in patients 1, 2 and 3, who are compound heterozygous for mutations R141H/T237M (patients 1 and 2) and R141H/P113L (Patient 3). In Patient 4, PMM activity was normal, and further enzymatic and molecular studies are underway. As the search for the primary defect in mitochondrial diseases is often unsuccessful, the pool of mitochondrial patients that remain without definite diagnosis might include CDG cases. Routine screening for CDG may avoid precocious invasive investigations.- - - - - - - - - - ranking = 0.11062902277614keywords = deficiency (Clic here for more details about this article) |
4/24. An autopsy case of ornithine transcarbamylase deficiency.We present an autopsy case of ornithine transcarbamylase (OTC) deficiency with grumose degeneration in the dentate nucleus of the cerebellum. The patient had intractable neonatal convulsions and hyperammonemia from the 3rd day after birth. diagnosis of OTC deficiency was made based on null activity of the enzyme and four-base deletions in exon 9 of the OTC gene. death was due to sepsis as well as disseminated intravascular coagulation at 1 year and 2 months of age. Neuropathology showed multiple cystic changes and ulegyria in the bilateral frontal and parietal lobes. Multiple cysts were associated with the region, which was infiltrated with macrophages surrounded by astroglia showing palisading pattern. Ferrugination was marked in the thalamus and severe neuronal loss with astrogliotic change in the CA1-2 area of the hippocampus. Grumose degeneration was noted in the dentate nucleus of the cerebellum. This is the first report of grumose degeneration in OTC deficiency.- - - - - - - - - - ranking = 0.77440315943296keywords = deficiency (Clic here for more details about this article) |
5/24. Complete biotinidase deficiency presenting as reversible progressive ataxia and sensorineural deafness.Most symptomatic patients with biotinidase deficiency have both neurologic and cutaneous symptoms and typical organic aciduria. We encountered a previously healthy girl with complete biotinidase deficiency presenting initially at age 17 months with episodic ataxia that became severe progressive ataxia in 2 months, but without skin rash or typical organic aciduria, which resolved completely with biotin treatment. Additionally, moderate sensorineural deafness also improved to the normal range. Even without typical cutaneous findings or organic aciduria, biotinidase deficiency should be considered among the differential diagnosis in any child presenting with either episodic or progressive ataxia or sensorineural deafness as prompt diagnosis and treatment with biotin may induce an excellent recovery.- - - - - - - - - - ranking = 0.77440315943296keywords = deficiency (Clic here for more details about this article) |
6/24. The Marinesco-Sjogren syndrome examined by computed tomography, magnetic resonance, and 18F-2-fluoro-2-deoxy-D-glucose and positron emission tomography.The Marinesco-Sjogren syndrome is an autosomal recessive degenerative disorder characterized by congenital cataracts, cerebellar ataxia, spasticity, mental deficiency, and skeletal abnormalities. We studied two adult siblings with Marinesco-Sjogren syndrome using anatomic and metabolic brain imaging techniques to characterize the pattern and nature of abnormalities in the brain. Computed tomographic and magnetic resonance imaging showed diffuse brain atrophy of mild to moderate degree, involving primarily the white matter of the cerebrum, cerebellum, brain stem, and cervical spinal cord. The pattern of atrophy resembled that seen in diffuse leukoencephalopathies. Measurements of local cerebral glucose metabolic rates with positron emission tomography revealed no statistically significant differences from normal control subjects in most regions, but metabolic rate was decreased in the thalamus in one patient. The findings support a diffuse white matter disorder in Marinesco-Sjogren syndrome.- - - - - - - - - - ranking = 0.11062902277614keywords = deficiency (Clic here for more details about this article) |
7/24. Syndrome of cerebellar ataxia and hypogonadotrophic hypogonadism: evidence for pituitary gonadotrophin deficiency.Familial cerebellar ataxia with hypogonadotrophic hypogonadism is a rare condition. Two affected siblings in a sibship of three were studied and found to have low plasma gonadotrophin levels. No rise in gonadotrophin levels was demonstrable after repeated stimulation with LHRH. The pattern of TSH and prolactin responses to TRH stimulation suggest hypothalamic dysfunction. The results clearly identify the cause of hypogonadism to be due to a defect in production or release of gonadotrophins by the pituitary gland and suggest that hypogonadism is part of a greater endocrine disturbance involving both the hypothalamus and pituitary.- - - - - - - - - - ranking = 0.44251609110455keywords = deficiency (Clic here for more details about this article) |
8/24. Glutamate metabolism of leukocytes and skin fibroblasts in spinocerebellar degeneration with lowered glutamate dehydrogenase activity.From 21 patients with spinocerebellar degeneration 5 had markedly decreased glutamate dehydrogenase (GDH) activities and high values of serum plasma glutamate level after oral glutamate loading tests. skin fibroblasts from patients with GHD deficiency showed intracellularly higher glutamate and lower glutathione contents than those from controls and showed significantly decreased viability in L-glutamate-containing medium. These data suggest that glutamate toxicity may at least play a part in this degeneration process.- - - - - - - - - - ranking = 0.11062902277614keywords = deficiency (Clic here for more details about this article) |
9/24. Decreased glutamate dehydrogenase protein in spinocerebellar degeneration.A radioimmunoassay system for determining content of glutamate dehydrogenase (GDH) in human leukocytes was established and studied in 14 patients with spinocerebellar ataxia or atypical Parkinsonism. The protein content of leukocyte GDH was decreased in four patients and the reduction in the protein content was proportional to that in the enzyme activity. The ratio of GDH activity to protein content was invariable in healthy controls, diseased controls and patients with reduced GDH activity. These results suggested that at least a portion of the partial GDH deficiency was due to the decreased level of the enzyme protein.- - - - - - - - - - ranking = 0.11062902277614keywords = deficiency (Clic here for more details about this article) |
10/24. adult-onset spinocerebellar syndrome with idiopathic vitamin e deficiency.A 62-year-old man and his maternal uncle had a selective vitamin e deficiency without generalized fat malabsorption. A progressive neurological disorder comprising ataxia, areflexia, and loss of proprioception developed in their sixth and seventh decades. The vitamin e deficiency is thought to be due to abnormally accelerated utilization, excretion, or degradation of the vitamin. This adult-onset spinocerebellar syndrome is due to vitamin e deficiency not caused by malabsorption.- - - - - - - - - - ranking = 1.9660161890845keywords = vitamin, deficiency (Clic here for more details about this article) |
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