1/35. Juvenile form of dihydropteridine reductase deficiency in 2 Tunisian patients.Two brothers are described who had juvenile-onset DHPR deficiency. Both were considered normal until six years of age when they developed a fluctuating and progressive encephalopathy combining mental retardation, epilepsy, pyramidal, cerebellar and extrapyramidal signs.- - - - - - - - - - ranking = 1keywords = deficiency (Clic here for more details about this article) |
2/35. Familial dysequilibrium-diplegia with T-lymphocyte deficiency.A second family is described with a combination of defective thymus-dependent immunity and cerebral palsy. The cerebral palsy comprised nonprogressive dysequilibrium and mild spastic diplegia without limb ataxia. This genetic entity of presumed autosomal recessive inheritance is clearly distinguished from ataxia-telangiectasia. Immunological abnormalities should be sought in other familial or unexplained cerebral palsy syndromes.- - - - - - - - - - ranking = 0.8keywords = deficiency (Clic here for more details about this article) |
3/35. brain creatine depletion: guanidinoacetate methyltransferase deficiency (improving with creatine supplementation).The authors describe an Italian child with guanidinoacetate methyltransferase deficiency, neurologic regression, movement disorders, and epilepsy during the first year of life. brain MRI showed pallidal and periaqueductal alterations. In vivo 1H-MRS showed brain creatine depletion. The assessment of guanidinoacetic acid concentration in biologic fluids confirmed the diagnosis. Clinical, biochemical, and neuroradiologic improvement followed creatine supplementation.- - - - - - - - - - ranking = 1keywords = deficiency (Clic here for more details about this article) |
4/35. Reversible central nervous system dysfunction in folate deficiency.An epileptic patient on chronic anticonvulsant drug therapy is described, in whom anaemia and neurological abnormalities including progressive dementia, bilateral pyramidal tract signs, incontinence and ataxia developed. Vitamin B12 serum levels and absorption were normal, but serum folic acid levels were low. Both the neurological disturbances and anaemia resolved following oral folic acid administration. This sequence of events in our patient suggests a cause and effect relationship between the folate deficiency and the coexistent, transient neurological syndrome.- - - - - - - - - - ranking = 1keywords = deficiency (Clic here for more details about this article) |
5/35. Cerebral aneurysms in a child with acquired immune deficiency syndrome during rapid immune reconstitution.A 12-year-old boy with perinatally acquired human immunodeficiency virus infection an d Centers for disease Control and Prevention class C3 disease presented with acute onset of confusion and a right-sided movement disorder 5 months after beginning a new antiretroviral regimen. His CD4 count had been below 50 cells/microL for 4 years but had abruptly risen to more than 250 cells/microL. Computed tomographic and magnetic resonance imaging scans showed cerebral aneurysms and new cerebral lesions consistent with ischemic strokes. The presentation during immune reconstitution suggests that cerebral aneurysms in pediatric patients with acquired immune deficiency syndrome can result from an immune-mediated response to chronic vascular infection.- - - - - - - - - - ranking = 1.2keywords = deficiency (Clic here for more details about this article) |
6/35. Proton MR spectroscopy in succinic semialdehyde dehydrogenase deficiency.Succinic semialdehyde dehydrogenase (SSADH) deficiency is a rare hereditary disorder of the CNS catabolism of gamma-aminobutyric acid (GABA), leading to accumulation of the metabolite 4-hydroxybutyrate (GHB). Here the authors report on 1.5 and 3.0 T proton MR spectroscopy in a patient with SSADH deficiency. A characteristic pattern with clearly elevated GABA levels and traces of GHB was found in both the white and the gray matter of the brain. In vivo spectroscopy may be useful for diagnosis and monitoring SSADH deficiency.- - - - - - - - - - ranking = 32.773976527162keywords = dehydrogenase deficiency, dehydrogenase, deficiency (Clic here for more details about this article) |
7/35. Late-onset presentation of pyruvate dehydrogenase deficiency.Two brothers presented in their mid-forties with movement disorders including atypical parkinsonism, choreiform movements, stereotypies, ataxia and dysarthria. Both brothers showed putaminal lucencies on imaging and, in the proband, a deficiency of the pyruvate dehydrogenase complex (PDHC) was found on skin fibroblast assay.- - - - - - - - - - ranking = 32.373976527162keywords = dehydrogenase deficiency, dehydrogenase, deficiency (Clic here for more details about this article) |
8/35. Management of movement disorders in glutaryl-coa dehydrogenase deficiency: anticholinergic drugs and botulinum toxin as additional therapeutic options.Glutaric aciduria type I is an inborn error of metabolism due to the deficiency of glutaryl-coa dehydrogenase, an enzyme responsible for the catabolism of lysine, hydroxylysine and tryptophan. The most important neurological symptoms include dyskinesia and dystonia, which can be focal, segmental or generalized. Treatment of the extrapyramidal syndrome is often unsatisfactory. We report our experience in the treatment of generalized and focal dystonia with anticholinergic drugs and botulinum toxin type A, respectively. Both therapies proved beneficial.- - - - - - - - - - ranking = 32.373976527162keywords = dehydrogenase deficiency, dehydrogenase, deficiency (Clic here for more details about this article) |
9/35. Cerebral folate deficiency: life-changing supplementation with folinic acid.Cerebral folate deficiency is characterized by low cerebrospinal fluid (CSF) concentrations of 5-methyltetrahydrofolate and a broad spectrum of clinical signs and symptoms. A patient with progressive spasticity, gait disturbance, speech difficulties, initially diagnosed as a recessive spastic paraplegia recovered on folinic acid (15-30 mg/day) and her 5-methyltetrahydrofolate in CSF normalized. This report demonstrates the importance of CSF investigation in the diagnosis of cerebral folate deficiency and efficiency of folinic acid (5-formyltetrahydrofolate) supplementation.- - - - - - - - - - ranking = 1.2keywords = deficiency (Clic here for more details about this article) |
10/35. 6-pyruvoyl-tetrahydropterin synthase deficiency with mild hyperphenylalaninemia.Severe 6-pyruvoyl-tetrahydrobiopterin synthase deficiency is a tetrahydrobiopterin deficiency disorder that presents in infancy with developmental delay, seizures, and abnormal movements associated with hyperphenylalaninemia usually detectable by neonatal phenylketonuria screening programs. We describe an 8-year-old girl with delay, seizures, and dystonia with mild hyperphenylalaninemia detected in late childhood. The diagnosis of 6-pyruvoyl-tetrahydrobiopterin synthase deficiency was made by analysis of pterins in urine, pterins and neurotransmitters in cerebrospinal fluid, and enzyme assay. The patient improved clinically taking oral tetrahydrobiopterin, levodopa/carbidopa, and 5-hydroxytryptophan. This treatable condition may not always be detected by routine population screening for hyperphenylalaninemia.- - - - - - - - - - ranking = 1.4keywords = deficiency (Clic here for more details about this article) |
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